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Lookup Mutations by Publication
Akatsu H, Yamagata H, Wake A et al. The first autopsy case report of familial Alzheime... Alzheimer's & Dementia 4 Supp 2: T578, 2008 |
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PSEN1:
(Gly266Ser)
|
|
ID: 556 | |
Alberici A, Bonato C, Borroni B et al. Dementia, delusions and seizures: storage disease... European Journal of Neurology 14: 1057-1059, 2007 (PubMed ID: 17718701) |
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|
PSEN1:
(Pro117Leu)
|
|
ID: 462 | |
Aldudo J, Bullido MJ, Valdivieso F. DGGE method for the mutational analysis of the cod... Human Mutation 14: 433-439, 1999 (PubMed ID: 10533070) |
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|
PSEN1:
(Met233Leu)
(Leu282Arg)
(Ala409Thr)
|
|
ID: 66 | |
Aldudo J, Bullido MJ, Frank A et al. Missense mutation E318G of the presenilin-1 gene a... Annals of Neurology 44: 985-986, 1998 (PubMed ID: 9851450) |
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|
PSEN1:
(Glu318Gly)
|
|
ID: 161 | |
Aldudo J, Bullido MJ, Arbizu T et al. Identification of a novel mutation (Leu282Arg) of... Neuroscience Letters 240: 174-176, 1998 (PubMed ID: 9502232) |
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|
PSEN1:
(Leu282Arg)
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|
ID: 32 | |
Amtul Z, Lewis PA, Piper S et al. A presenilin 1 mutation associated with familial f... Neurobiology of Disease 9: 269-273, 2002 (PubMed ID: 11895378) |
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|
PSEN1:
(InsR352)
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|
ID: 141 | |
Ancolio K, Dumanchin C, Barelli H et al. Unusual phenotypic alteration of beta amyloid prec... Proceedings of the National Academy of Sciences USA 96: 4119-4124, 1999 (PubMed ID: 10097173) |
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|
APP:
(Val715Met; French APP)
|
|
ID: 62 | |
Andreoli V, Trecroci F, La Russa A et al. Gene symbol: PSEN2. Disease: Alzheimer disease. Human Genetics 124: 304, 2008 (PubMed ID: 18846634) |
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|
PSEN2:
(Met174Val)
|
|
ID: 569 | |
Anfossi M, Bernardi L, Gallo M et al. Tau V363I mutation: pathogenic or not?. Alzheimer's & Dementia 4 Supp 2: T603, 2008 |
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|
MAPT:
(Val363Ile)
|
|
ID: 588 | |
Anheim M, Hannequin D, Boulay C et al. Ataxic variant of Alzheimer's disease caused by Pr... Journal of Neurology, Neurosurgery and Psychiatry 78: 1414-1415, 2007 (PubMed ID: 18024701) |
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|
PSEN1:
(Pro117Ala)
|
|
ID: 522 | |
Aoki M, Abe K, Oda N et al. A presenilin-1 mutation in a Japanese family with... Neurology 48: 1118-1120, 1997 (PubMed ID: 9109915) |
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|
PSEN1:
(Ala285Val)
|
|
ID: 83 | |
Arai N, Kishino A, Takahashi Y et al. Familial cases presenting very early onset autosom... Neurogenetics 9: 65-67, 2008 (PubMed ID: 17968601) |
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|
PSEN1:
(Ile143Thr)
|
|
ID: 537 | |
Arango D, Cruts M, Torres O et al. Systematic genetic study of Alzheimer disease in L... American Journal of Medical Genetics 103: 138-143, 2001 (PubMed ID: 11568920) |
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|
APP:
(Gly708)
|
|
ID: 119 | |
Arima K, Kowalska A, Hasegawa M et al. Two brothers with frontotemporal dementia and park... Neurology 54: 1787-1795, 2000 (PubMed ID: 10802785) |
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|
MAPT:
(Asn279Lys)
|
|
ID: 207 | |
Armstrong J, Boada M, Rey MJ et al. Familial Alzheimer disease associated with A713T m... Neuroscience Letters 370: 241-243, 2004 (PubMed ID: 15488330) |
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|
APP:
(Ala713Thr)
|
|
ID: 343 | |
Assini A, Terreni L, Borghi R et al. Pure spastic paraparesis associated with a novel p... neurology 60: 150-151, 2003 (PubMed ID: 12525746) |
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|
PSEN1:
(Arg278Lys)
|
|
ID: 155 | |
Ataka S, Tomiyama T, Takuma H et al. A novel presenilin-1 mutation (Leu85Pro) in early-... Archives of Neurology 61: 1773-1776, 2004 (PubMed ID: 15534188) |
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|
PSEN1:
(Leu85Pro)
|
|
ID: 346 | |
Athan ES, Williamson J, Ciappa A et al. A founder mutation in presenilin 1 causing early-o... Journal of the American Medical Association 286: 2256-2263, 2001 (PubMed ID: 11710891) |
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|
PSEN1:
(Gly206Ala)
|
|
ID: 122 | |
Axelman K, Basun H, Lannfelt L. Wide range of disease onset in a family with Alzhe... Archives of Neurology 55: 698-702, 1998 (PubMed ID: 9605727) |
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|
PSEN1:
(His163Tyr)
|
|
ID: 82 | |
Baker M, Mackenzie IR, Pickering-Brown SM et al. Mutations in progranulin cause tau-negative fronto... Nature 442: 916-919, 2006 (PubMed ID: 16862116) |
|
|
GRN:
(Met1)
(Cys31fs)
(Gln125X)
(Gln130fs)
(Val279fs)
(Thr382fs)
(Trp386X)
(Arg418X)
(Gln468X)
|
|
ID: 381 | |
Baker M, Litvan I, Houlden H et al. Association of an extended haplotype in the tau ge... Human Molecular Genetics 8: 711-715, 1999 (PubMed ID: 10072441) |
|
|
MAPT:
(Ala227)
(Asn255)
|
|
ID: 313 | |
Baker M, Kwok JB, Kucera S et al. Localization of frontotemporal dementia with parki... Annals of Neurology 42: 794-798, 1997 (PubMed ID: 9392579) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 275 | |
Balbín M, Abrahamson M, Gustafson L et al. A novel mutation in the beta-protein coding region... Human Genetics 89: 580-582, 1992 (PubMed ID: 1634237) |
|
|
APP:
(Gly708)
|
|
ID: 609 | |
Batelli S, Albani D, Prato F et al. Early-onset Alzheimer disease in an Italian family... Alzheimer Disease and Associated Disorders 22: 184-187, 2008 (PubMed ID: 18525293) |
|
|
PSEN1:
(Glu318Gly)
(Gly394Val)
|
|
ID: 544 | |
Bäumer D, Parkinson N, Talbot K. TARDBP in amyotrophic lateral sclerosis: identific... Journal of Neurology, Neurosurgery and Psychiatry 80: 1283-1285, 2009 (PubMed ID: 19864663) |
|
|
TARDBP:
(Ala66)
(Ala315)
(Ala321Gly)
|
|
ID: 663 | |
Beck J, Rohrer JD, Campbell T et al. A distinct clinical, neuropsychological and radiol... Brain 131: 706-720, 2008 (PubMed ID: 18234697) |
|
|
GRN:
(Cys31fs)
(Gln130fs)
(Ala199Val)
(Ser203fs)
(Gln300X)
(Ala324Thr)
(Arg433Trp)
(Leu469Phe)
(Glu498fs)
|
|
ID: 517 | |
Beck JA, Poulter M, Campbell TA et al. Somatic and germline mosaicism in sporadic early-o... Human Molecular Genetics 13: 1219-1224, 2004 (PubMed ID: 15115757) |
|
|
PSEN1:
(Pro436Gln)
|
|
ID: 339 | |
Behrens MI, Mukherjee O, Tu PH et al. Neuropathologic heterogeneity in HDDD1: a familial... Alzheimer Disease and Associated Disorders 21: 1-7, 2007 (PubMed ID: 17334266) |
|
|
GRN:
(Ala237fs)
|
|
ID: 445 | |
Belzil VV, Valdmanis PN, Dion PA et al. Mutations in FUS cause FALS and SALS in French and... Neurology 73: 1176-1179, 2009 (PubMed ID: 19741216) |
|
|
FUS:
(Pro21His)
(Gly49)
(Gly51)
(Ser57del)
(Asn63Ser)
(Gly228_Gly230delGGG)
(Gly230_Tys231insG)
(Arg521Cys)
(Arg521His)
|
|
ID: 631 | |
Benajiba L, Le Ber I, Camuzat A et al. TARDBP mutations in motoneuron disease with fronto... Annals of Neurology 65: 470-473, 2009 (PubMed ID: 19350673) |
|
|
TARDBP:
(Gly295Ser)
(Ala315)
|
|
ID: 589 | |
Benussi L, Ghidoni R, Pegoiani E et al. Progranulin Leu271LeufsX10 is one of the most comm... Neurobiology of Disease 33: 379-385, 2008 (PubMed ID: 19101631) |
|
|
GRN:
(IVS7-3C>G)
(Thr272fs)
(His340fs)
(Gln341X)
|
|
ID: 581 | |
Benussi L, Binetti G, Sina E et al. A novel deletion in progranulin gene is associated... Neurobiology of Aging 29: 427-435, 2008 (PubMed ID: 17157414) |
|
|
GRN:
(Thr272fs)
|
|
ID: 420 | |
Benussi L, Ghidoni R, Paterlini A et al. Interaction between tau and alpha-synuclein protei... Experimental Cell Research 308: 78-84, 2005 (PubMed ID: 15904919) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 359 | |
Bermingham N, Cowie TF, Paine M et al. Frontotemporal dementia and Parkinsonism linked to... Neuropathology and Applied Neurobiology 34: 366-370, 2008 (PubMed ID: 18067537) |
|
|
MAPT:
(Gly389Arg)
|
|
ID: 512 | |
Bernardi L, Tomaino C, Anfossi M et al. Novel PSEN1 and PGRN mutations in early-onset fami... Neurobiology of Aging 30: 1825-1833, 2009 (PubMed ID: 18314228) |
|
|
GRN:
(Cys139Arg)
|
|
ID: 507 | |
Bernardi L, Geracitano S, Colao R et al. AbetaPP A713T mutation in late onset Alzheimer's d... Journal of Alzheimer's Disease 17: 383-389, 2009 (PubMed ID: 19363265) |
|
|
APP:
(Ala713Thr)
|
|
ID: 643 | |
Bernardi L, Tomaino C, Anfossi M et al. Late onset familial Alzheimer's disease: novel pre... Journal of Neurology 255: 604-606, 2008 (PubMed ID: 18350357) |
|
|
PSEN1:
(Glu318Gly)
|
|
ID: 514 | |
Bersano A, Del Bo R, Lamperti C et al. Inclusion body myopathy and frontotemporal dementi... Neurobiology of Aging 30: 752-758, 2009 (PubMed ID: 17889967) |
|
|
VCP:
(Arg159Cys)
|
|
ID: 488 | |
Bertoli Avella AM, Marcheco Teruel B, Llibre Rodriguez JJ et al. A novel presenilin 1 mutation (L174 M) in a large... Neurogenetics 4: 97-104, 2002 (PubMed ID: 12484344) |
|
|
PSEN1:
(Leu174Met)
|
|
ID: 304 | |
Bertoli-Avella AM, Teruel BM, LLibre-Rodriguez JJ et al. A novel presenilin1 mutation (L174M) in a large Cu... Neurobiology of Aging 23 (1S): S315, 2002 |
|
|
PSEN1:
(Leu174Met)
|
|
ID: 129 | |
Besançon R, Lorenzi A, Cruts M et al. Missense mutation in exon 11 (Codon 378) of the pr... Human Mutation 11: 481, 1998 (PubMed ID: 10200054) |
|
|
PSEN1:
(Gly378Glu)
|
|
ID: 34 | |
Beyer K, Lao JI, Fernandández-Novoa L et al. Identification of a novel mutation (V148I) in the... Neurobiology of Aging 19 Supp4: S87, 1998 |
|
|
PSEN2:
(Val148Ile)
|
|
ID: 36 | |
Binetti G, Signorini S, Squitti R et al. Atypical dementia associated with a novel presenil... Annals of Neurology 54: 832-836, 2003 (PubMed ID: 14681895) |
|
|
PSEN2:
(Thr122Arg)
|
|
ID: 421 | |
Binetti G, Nicosia F, Benussi L et al. Prevalence of TAU mutations in an Italian clinical... Neuroscience Letters 338: 85-87, 2003 (PubMed ID: 12565146) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 248 | |
Bird T. . Personal Communication : , 2005 |
|
|
MAPT:
(Leu315)
|
|
ID: 352 | |
Bird TD (Seattle). . Personal Communication : , 2004 |
|
|
PSEN1:
(Tyr115Asp)
|
|
ID: 322 | |
Bird TD, Nochlin D, Poorkaj P et al. A clinical pathological comparison of three famili... Brain 122: 741-756, 1999 (PubMed ID: 10219785) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 249 | |
Blair IP, Williams KL, Warraich ST et al. FUS mutations in amyotrophic lateral sclerosis: cl... Journal of Neurology, Neurosurgery and Psychiatry 81: 639-645, 2010 (PubMed ID: 19965854) |
|
|
FUS:
(Arg521Cys)
|
|
ID: 680 | |
Boeve BF, Tremont-Lukats IW, Waclawik AJ et al. Longitudinal characterization of two siblings with... Brain 128: 752-772, 2005 (PubMed ID: 15615814) |
|
|
MAPT:
(Ser305Asn)
|
|
ID: 334 | |
Boeve BF, Baker M, Dickson DW et al. Frontotemporal dementia and parkinsonism associate... Brain 129: 3103-3114, 2006 (PubMed ID: 17030535) |
|
|
GRN:
(IVS2+1G>A)
|
|
ID: 415 | |
Borroni B, Bonvicini C, Alberici A et al. Mutation within TARDBP leads to Frontotemporal Dem... Human Mutation 30: E974-E983, 2009 (PubMed ID: 19655382) |
|
|
TARDBP:
(Asn267Ser)
|
|
ID: 620 | |
Borroni B, Archetti S, Alberici A et al. Progranulin genetic variations in frontotemporal l... Neurogenetics 9: 197-205, 2008 (PubMed ID: 18392865) |
|
|
GRN:
(Thr272fs)
|
|
ID: 523 | |
Boteva K, Vitek M, Mitsuda H et al. Mutation analysis of presenillin 1 gene in Alzheim... The Lancet 347: 130-131, 1996 (PubMed ID: 8538334) |
|
|
PSEN1:
(Met139Val)
(Met139Ile)
(His163Arg)
|
|
ID: 11 | |
Brice A. . Personal Communication : , 2005 |
|
|
MAPT:
(Gln424Lys)
|
|
ID: 363 | |
Bronner IF, Rizzu P, Seelaar H et al. Progranulin mutations in Dutch familial frontotemp... European Journal of Human Genetics 15: 369-374, 2007 (PubMed ID: 17228326) |
|
|
GRN:
(Ser82fs)
(Gly93)
(Gln125X)
(Thr182Met)
(Pro233Gln)
(Val411fs)
(Gly414Val)
(Arg418Gln)
(His447)
(Trp541Cys)
|
|
ID: 430 | |
Bronner IF, Ter Meulen BC, Azmani A et al. Hereditary Pick's disease with the G272V tau mutat... Brain 128: 2645-2653, 2005 (PubMed ID: 16014652) |
|
|
MAPT:
(Gly272Val)
|
|
ID: 355 | |
Brooks WS, Kwok JB, Kril JJ et al. Alzheimer's disease with spastic paraparesis and '... Brain 126: 783-791, 2003 (PubMed ID: 12615638) |
|
|
PSEN1:
(Δ9)
(Δ9)
|
|
ID: 169 | |
Brooks WS, Martins RN, De Voecht J et al. A mutation in codon 717 of the amyloid precursor p... Neuroscience Letters 199: 183-186, 1995 (PubMed ID: 8577393) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 48 | |
Brouwers N, Sleegers K, Engelborghs S et al. Genetic variability in progranulin contributes to... Neurology 71: 656-664, 2008 (PubMed ID: 18565828) |
|
|
GRN:
(Asp33Glu)
(Cys139Arg)
(Arg212Gln)
(Leu261Ile)
(Ala324Thr)
(Arg433Trp)
(Pro451Leu)
(Val514Met)
(Gly515Ala)
(Arg564Cys)
|
|
ID: 530 | |
Brouwers N, Sleegers K, Van Broeckhoven C. Molecular genetics of Alzheimer's disease: an upda... Annals of Medicine 40: 562-583, 2008 (PubMed ID: 18608129) |
|
|
APP:
(Glu682Lys; Leuven APP)
|
|
ID: 578 | |
Brouwers N, Nuytemans K, van der Zee J et al. Alzheimer and Parkinson diagnoses in progranulin n... Archives of Neurology 64: 1436-1446, 2007 (PubMed ID: 17923627) |
|
|
GRN:
(IVS1+5G>C)
(Arg535X)
|
|
ID: 498 | |
Brouwers N, Sleegers K, Engelborghs S et al. Genetic risk and transcriptional variability of am... Brain 129: 2984-2991, 2006 (PubMed ID: 16931535) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 528 | |
Brouwers N, Sleegers K, Theuns J et al. Contribution of dementia genes to Alzheimer's dise... Alzheimer's & Dementia 2 Supp 1: S191, 2006 |
|
|
MAPT:
(IVS10+29G>A)
|
|
ID: 542 | |
Brown J, Lantos PL, Roques P et al. Familial dementia with swollen achromatic neurons... Journal of the Neurological Sciences 135: 21-30, 1996 (PubMed ID: 8926492) |
|
|
MAPT:
(Asn296)
(IVS10+16C>T)
|
|
ID: 212 | |
Bruni AC, Bernardi L, Colao R et al. Worldwide distribution of PSEN1 Met146Leu mutation... Neurology 74: 798-806, 2010 (PubMed ID: 20164095) |
|
|
PSEN1:
(Met146Leu)
|
|
ID: 670 | |
Bruni AC, Momeni P, Bernardi L et al. Heterogeneity within a large kindred with frontote... Neurology 69: 140-147, 2007 (PubMed ID: 17620546) |
|
|
GRN:
(Thr382fs)
|
|
ID: 453 | |
Bugiani O. FTDP-17: phenotypical heterogeneity within P301S. Annals of Neurology 48: 126, 2000 (PubMed ID: 10894228) |
|
|
MAPT:
(Pro301Ser)
|
|
ID: 219 | |
Bugiani O, Murrell JR, Giaccone G et al. Frontotemporal dementia and corticobasal degenerat... Journal of Neuropathology and Experimental Neurology 58: 667-677, 1999 (PubMed ID: 10374757) |
|
|
MAPT:
(Pro301Ser)
|
|
ID: 220 | |
Cairns NJ, Perrin RJ, Schmidt RE et al. TDP-43 proteinopathy in familial motor neurone dis... Neuropathology and Applied Neurobiology 36: 673-679, 2010 (PubMed ID: 20819167) |
|
|
TARDBP:
(Ala315Thr)
|
|
ID: 699 | |
Campion D, Dumanchin C, Hannequin D et al. Early-onset autosomal dominant Alzheimer disease:... American Journal of Human Genetics 65: 664-670, 1999 (PubMed ID: 10441572) |
|
|
APP:
(Val715Met; French APP)
(Val717Ile; London APP)
|
|
ID: 78 | |
Campion D, Brice A, Hannequin D et al. No founder effect in three novel Alzheimer's disea... Journal of Medical Genetics 33: 661-664, 1996 (PubMed ID: 8863158) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 46 | |
Campion D, Brice A, Dumanchin C et al. A novel presenilin 1 mutation resulting in familia... Neuroreport 7: 1582-1584, 1996 (PubMed ID: 8904759) |
|
|
PSEN1:
(Leu235Pro)
|
|
ID: 26 | |
Campion D, Flaman JM, Brice A et al. Mutations of the presenilin I gene in families wit... Human Molecular Genetics 4: 2373-2377, 1995 (PubMed ID: 8634712) |
|
|
PSEN1:
(Val82Leu)
(Tyr115His)
(Met139Thr)
(His163Arg)
(Ala231Thr)
(Pro264Leu)
(Leu392Val)
(Cys410Tyr)
|
|
ID: 3 | |
Campion D, Brice A, Hannequin D et al. A large pedigree with early-onset Alzheimer's dise... Neurology 45: 80-85, 1995 (PubMed ID: 7824141) |
|
|
PSEN1:
(Leu392Val)
|
|
ID: 105 | |
Cannon A, Baker M, Boeve B et al. CHMP2B mutations are not a common cause of frontot... Neuroscience Letters 398: 83-84, 2006 (PubMed ID: 16431024) |
|
|
CHMP2B:
(Ile29Val)
(Thr104)
(Thr124)
|
|
ID: 468 | |
Carecchio M, Fenoglio C, De Riz M et al. Progranulin plasma levels as potential biomarker f... Journal of the Neurological Sciences 287: 291-293, 2009 (PubMed ID: 19683260) |
|
|
GRN:
(Gln130fs)
(Thr272fs)
|
|
ID: 619 | |
Carter DA, Desmarais E, Bellis M et al. More missense in amyloid gene. Nature Genetics 2: 255-256, 1992 (PubMed ID: 1303275) |
|
|
APP:
(Ala713Thr)
|
|
ID: 153 | |
Caviness JN, Tsuboi Y, Wszolek ZK. Clinical-electrophysiological correlation of tremo... Parkinsonism and Related Disorders 9: 151-157, 2003 (PubMed ID: 12573870) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 194 | |
Cervenakova L, Brown P, Sandoval F et al. Identification of presenilin-1 gene point mutation... American Journal of Human Genetics 59 Supp: A252, 1996 |
|
|
PSEN1:
(Met146Val)
(Met146Ile)
(His163Arg)
(Cys410Tyr)
|
|
ID: 16 | |
Chartier-Harlin MC, Crawford F, Houlden H et al. Early-onset Alzheimer's disease caused by mutation... Nature 353: 844-846, 1991 (PubMed ID: 1944558) |
|
|
APP:
(Val717Gly)
|
|
ID: 40 | |
Cheshire WP, Tsuboi Y, Wszolek ZK. Physiologic assessment of autonomic dysfunction in... Autonomic Neuroscience 102: 71-77, 2002 (PubMed ID: 12492138) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 195 | |
Chiang HH, Rosvall L, Brohede J et al. Progranulin mutation causes frontotemporal dementi... Alzheimer's & Dementia 4: 414-420, 2008 (PubMed ID: 19012866) |
|
|
GRN:
(Asp33)
(Gly35fs)
|
|
ID: 566 | |
Chiò A, Borghero G, Pugliatti M et al. Large proportion of amyotrophic lateral sclerosis... Archives of Neurology 68: 594-598, 2011 (PubMed ID: 21220647) |
|
|
TARDBP:
(Ala382Thr)
|
|
ID: 697 | |
Clarimón J, Guerreiro R, Lleó A et al. Genetic screening in a large cohort of early-onset... Alzheimer's & Dementia 4 Supp 2: T583, 2008 |
|
|
APP:
(Ile716Phe)
|
|
ID: 539 | |
Clark LN, Poorkaj P, Wszolek Z et al. Pathogenic implications of mutations in the tau ge... Proceedings of the National Academy of Sciences USA 95: 13103-13107, 1998 (PubMed ID: 9789048) |
|
|
MAPT:
(Asn279Lys)
(Pro301Leu)
(IVS10+14C>T)
|
|
ID: 196 | |
Clark RF, Hutton M, Fuldner RA et al. The structure of the presenilin 1 (S182) gene and... Nature Genetics 11: 219-222, 1995 (PubMed ID: 7550356) |
|
|
PSEN1:
(Met139Val)
(Met146Leu)
(Met146Val)
(His163Tyr)
(Pro267Ser)
(Glu280Ala)
(Glu280Gly)
|
|
ID: 13 | |
Colacicco AM, Panza F, Basile AM et al. F175S change and a novel polymorphism in presenili... European Neurology 47: 209-213, 2002 (PubMed ID: 12037434) |
|
|
PSEN1:
(Phe175Ser)
|
|
ID: 156 | |
Coleman P, Kurlan R, Crook R et al. A new presenilin Alzheimer's disease case confirms... Neuroscience Letters 364: 139-140, 2004 (PubMed ID: 15196662) |
|
|
PSEN1:
(Leu226Arg)
|
|
ID: 319 | |
Colombo R, Tavian D, Baker MC et al. Recent origin and spread of a common Welsh MAPT sp... Neurogenetics 10: 313-318, 2009 (PubMed ID: 19365643) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 583 | |
Coppola G, Karydas A, Rademakers R et al. Gene expression study on peripheral blood identifi... Annals of Neurology 64: 92-96, 2008 (PubMed ID: 18551524) |
|
|
GRN:
(Ser226fs)
(Val279fs;IVS8-1G>C)
|
|
ID: 536 | |
Corrado L, Del Bo R, Castellotti B et al. Mutations of FUS gene in sporadic amyotrophic late... Journal of Medical Genetics 47: 190-194, 2010 (PubMed ID: 19861302) |
|
|
FUS:
(Gly172_Gly175del)
(Gly174_Gly175del; delGG)
(Gly191Ser)
(Arg216Cys)
(Gly225Val)
(Gly226Ser)
(Gly229_Gly230delGG)
(Gly228_Gly230delGGG)
(Gly227_Gly230delGGGG)
(Gly229_Gly230delGG)
(Gly230delG)
(Gly230_Tys231insG)
(Gly230_Tys231insGG)
(Gly229_Gly230delGG)
(Gly230Cys)
(Arg234Cys)
(Gly507Asp)
(Arg521Cys)
|
|
ID: 658 | |
Corrado L, Ratti A, Gellera C et al. High frequency of TARDBP gene mutations in Italian... Human Mutation 30: 688-694, 2009 (PubMed ID: 19224587) |
|
|
TARDBP:
(Ser29)
(Ala66)
(Asn267Ser)
(Gly287Ser)
(Gly294Val)
(Gly295Ser)
(Gly295Arg)
(Ala315)
(Ser332Asn)
(Gly335Asp)
(Met337Val)
(Ser379Pro)
(Ser379Cys)
(Ala382Thr)
(Ser393Leu)
|
|
ID: 600 | |
Cortini F, Fenoglio C, Guidi I et al. Novel exon 1 progranulin gene variant in Alzheimer... European Journal of Neurology 15: 1111-1117, 2008 (PubMed ID: 18752597) |
|
|
GRN:
(Asp33)
(Gly35Arg)
|
|
ID: 540 | |
Cox LE, Ferraiuolo L, Goodall EF et al. Mutations in CHMP2B in lower motor neuron predomin... PLoS One 5: e9872, 2010 (PubMed ID: 20352044) |
|
|
CHMP2B:
(Ile29Val)
(Thr104Asn)
(Gln206His)
|
|
ID: 661 | |
Crawford F, Freeman M, Town T et al. No genetic association between polymorphisms in th... Neuroscience Letters 266: 193-196, 1999 (PubMed ID: 10465706) |
|
|
MAPT:
(EX6 His47Tyr)
(EX6 Ser53Pro)
|
|
ID: 311 | |
Crook R, Verkkoniemi A, Perez-Tur J et al. A variant of Alzheimer's disease with spastic para... Nature Medicine 4: 452-455, 1998 (PubMed ID: 9546792) |
|
|
PSEN1:
(Δ9Finn)
|
|
ID: 56 | |
Crook R, Ellis R, Shanks M et al. Early-onset Alzheimer's disease with a presenilin-... Annals of Neurology 42: 124-128, 1997 (PubMed ID: 9225696) |
|
|
PSEN1:
(Asn135Asp)
|
|
ID: 10 | |
Cruchaga C, Fernández-Seara MA, Seijo-Martínez M et al. Cortical Atrophy and Language Network Reorganizati... Cerebral Cortex 19: 1751-1760, 2009 (PubMed ID: 19020205) |
|
|
GRN:
(Cys521Tyr)
|
|
ID: 577 | |
Cruts M, Gijselinck I, van der Zee J et al. Null mutations in progranulin cause ubiquitin-posi... Nature 442: 920-924, 2006 (PubMed ID: 16862115) |
|
|
GRN:
(IVS1+5G>C)
(Met1)
(Gln125X)
(Pro127fs)
(Ala237fs)
|
|
ID: 378 | |
Cruts M, Dermaut B, Rademakers R et al. Novel APP mutation V715A associated with presenile... Journal of Neurology 250: 1374-1375, 2003 (PubMed ID: 14648157) |
|
|
APP:
(Val715Ala; German APP)
|
|
ID: 405 | |
Cruts M, Dermaut B, Kumar-Singh S et al. Novel German APP V715A mutation associated with pr... Neurobiology of Aging 23 (1S): S327, 2002 |
|
|
APP:
(Val715Ala; German APP)
|
|
ID: 127 | |
Cruts M, van Duijn CM, Backhovens H et al. Estimation of the genetic contribution of presenil... Human Molecular Genetics 7: 43-51, 1998 (PubMed ID: 9384602) |
|
|
PSEN1:
(Ala79Val)
(Tyr115Cys)
(Ala231Val)
(Glu318Gly)
|
|
ID: 2 | |
Cruts M, Backhovens H, Wang SY et al. Molecular genetic analysis of familial early-onset... Human Molecular Genetics 4: 2363-2372, 1995 (PubMed ID: 8634711) |
|
|
PSEN1:
(Ile143Thr)
(Gly384Ala)
|
|
ID: 1 | |
Daoud H, Valdmanis PN, Kabashi E et al. Contribution of TARDBP mutations to sporadic amyot... Journal of Medical Genetics 46: 112-114, 2009 (PubMed ID: 18931000) |
|
|
TARDBP:
(Ala66)
(Gly348Cys)
(Pro363Ala)
(Tyr374X)
(Ala382Pro)
|
|
ID: 598 | |
Dark F. A family with autosomal dominant, non-Alzheimer's... The Australian and New Zealand Journal of Psychiatry 31: 139-144, 1997 (PubMed ID: 9088499) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 276 | |
Davion S, Johnson N, Weintraub S et al. Clinicopathologic correlation in PGRN mutations. Neurology 69: 1113-1121, 2007 (PubMed ID: 17522386) |
|
|
GRN:
(Ser226fs)
(Ala237fs)
(Arg493X)
|
|
ID: 473 | |
De Jonghe C, Esselens C, Kumar-Singh S et al. Pathogenic APP mutations near the gamma-secretase... Human Molecular Genetics 10: 1665-1671, 2001 (PubMed ID: 11487570) |
|
|
APP:
(Thr714Ile, Austrian APP)
(Val715Met; French APP)
(Val715Ala; German APP)
(Ile716Val; Florida APP)
(Val717Ile; London APP)
(Val717Leu)
|
|
ID: 128 | |
De Jonghe C, Kumar-Singh S, Cruts M et al. Unusual Aβ amyloid deposition in Alzheimer's... Neurobiology of Aging 21 Supp1: S200, 2000 |
|
|
APP:
(Thr714Ile, Austrian APP)
|
|
ID: 98 | |
De Jonghe C, Cruts M, Rogaeva EA et al. Aberrant splicing in the presenilin-1 intron 4 mut... Human Molecular Genetics 8: 1539-1540, 1999 (PubMed ID: 10401002) |
|
|
PSEN1:
(Intron4; InsTAC)
|
|
ID: 63 | |
DeJesus-Hernandez M, Mackenzie IR, Boeve BF et al. Expanded GGGGCC hexanucleotide repeat in noncoding... Neuron 72: 245-256, 2011 (PubMed ID: 21944778) |
|
|
C9orf72:
(G4C2 hexanucleotide repeat expansion)
|
|
ID: 694 | |
DeJesus-Hernandez M, Kocerha J, Finch N et al. De novo truncating FUS gene mutation as a cause of... Human Mutation 31: E1377-1389, 2010 (PubMed ID: 20232451) |
|
|
FUS:
(Ser402_Pro411delinsGGGG)
(Gly466ValfsX15)
|
|
ID: 672 | |
Del Bo R, Corti S, Santoro D et al. No major progranulin genetic variability contribut... Neurobiology of Aging 32: 1157-1158, 2011 (PubMed ID: 19632744) |
|
|
GRN:
(Arg19Trp)
(Asp33)
(Ser120Tyr)
(Asp128)
(Asp518)
|
|
ID: 615 | |
Del Bo R, Ghezzi S, Corti S et al. TARDBP (TDP-43) sequence analysis in patients with... European Journal of Neurology 16: 727-732, 2009 (PubMed ID: 19236453) |
|
|
TARDBP:
(Ala66)
(Gly294Val)
(Gly295Ser)
(Gly348Cys)
(Ala382Thr)
|
|
ID: 596 | |
Delisle MB, Murrell JR, Richardson R et al. A mutation at codon 279 (N279K) in exon 10 of the... Acta Neuropathologica 98: 62-77, 1999 (PubMed ID: 10412802) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 204 | |
Dermaut B, Kumar-Singh S, Engelborghs S et al. A novel presenilin 1 mutation associated with Pick... Annals of Neurology 55: 617-626, 2004 (PubMed ID: 15122701) |
|
|
PSEN1:
(Gly183Val)
|
|
ID: 316 | |
Dermaut B, Kumar-Singh S, De Jonghe C et al. Cerebral amyloid angiopathy is a pathogenic lesion... Brain 124: 2383-2392, 2001 (PubMed ID: 11701593) |
|
|
PSEN1:
(Leu282Val)
|
|
ID: 115 | |
Dermaut B, Cruts M, Slooter AJ et al. The Glu318Gly substitution in presenilin 1 is not... American Journal of Human Genetics 64: 290-292, 1999 (PubMed ID: 9915968) |
|
|
PSEN1:
(Glu318Gly)
|
|
ID: 163 | |
Devi G, Fotiou A, Jyrinji D et al. Novel presenilin 1 mutations associated with early... Archives of Neurology 57: 1454-1457, 2000 (PubMed ID: 11030797) |
|
|
PSEN1:
(Ala434Cys)
|
|
ID: 110 | |
Dickson DW. Neurodegenerative diseases with cytoskeletal patho... Annals of Neurology 42: 541-544, 1997 |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 246 | |
Djamshidian A, Schaefer J, Haubenberger D et al. A novel mutation in the VCP gene (G157R) in a germ... Muscle & Nerve 39: 389-391, 2009 (PubMed ID: 19208399) |
|
|
VCP:
(Gly157Arg)
|
|
ID: 580 | |
Doran M, du Plessis DG, Ghadiali EJ et al. Familial early-onset dementia with tau intron 10 +... Archives of Neurology 64: 1535-1539, 2007 (PubMed ID: 17923640) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 476 | |
Doran M et al. Familial Alzheimer's disease due to presenilin-1 Y... Journal of Neurology 253 Suppl 2: ii91, 2006 (PubMed ID: 16710641) |
|
|
PSEN1:
(Tyr115Cys)
|
|
ID: 408 | |
Doran M et al. Prominent behavioural and psychiatric symptoms in... European Archives of Psychiatry and Clinical Neuroscience 254: 187-189, 2004 (PubMed ID: 15205973) |
|
|
PSEN1:
(Arg269Gly)
|
|
ID: 353 | |
Dowjat K, Kuchna I, Wisniewski K et al. Another highly pathogenic Alzheimer presenilin-1 m... Neurobiology of Aging 23 (1S): S219, 2002 |
|
|
PSEN1:
(Pro117Ser)
|
|
ID: 133 | |
Dowjat WK, Kuchna I, Wisniewski T et al. A novel highly pathogenic Alzheimer presenilin-1 m... Journal of Alzheimer's Disease 6: 31-43, 2004 (PubMed ID: 15004326) |
|
|
PSEN1:
(Pro117Ser)
(Pro117Leu)
|
|
ID: 366 | |
Drepper C, Herrmann T, Wessig C et al. C-terminal FUS/TLS mutations in familial and spora... Neurobiology of Aging 32: 548.e1-548.e4, 2011 (PubMed ID: 20018407) |
|
|
FUS:
(Arg521Cys)
(Arg522)
|
|
ID: 632 | |
D'Souza I, Poorkaj P, Hong M et al. Missense and silent tau gene mutations cause front... Proceedings of the National Academy of Sciences USA 96: 5598-5603, 1999 (PubMed ID: 10318930) |
|
|
MAPT:
(Leu284)
(IVS10+29G>A)
|
|
ID: 211 | |
Dumanchin C, Tournier I, Martin C et al. Biological effects of four PSEN1 gene mutations ca... Human Mutation 27: 1063, 2006 (PubMed ID: 16941492) |
|
|
PSEN1:
(Pro264Leu)
(Glu280Gly)
(869-22_869-23ins18)
(Thr291Pro)
|
|
ID: 412 | |
Dumanchin C, Camuzat A, Campion D et al. Segregation of a missense mutation in the microtub... Human Molecular Genetics 7: 1825-1829, 1998 (PubMed ID: 9736786) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 250 | |
Dumanchin C, Brice A, Campion D et al. De novo presenilin 1 mutations are rare in clinica... Journal of Medical Genetics 35: 672-673, 1998 (PubMed ID: 9719376) |
|
|
PSEN1:
(Met139Lys)
|
|
ID: 74 | |
Dunø M, Lindquist S, Puschmann A et al. . Personal Communication : , 2009 |
|
|
PSEN2:
(Arg163His)
|
|
ID: 576 | |
Eckman CB, Mehta ND, Crook R et al. A new pathogenic mutation in the APP gene (I716V)... Human Molecular Genetics 6: 2087-2089, 1997 (PubMed ID: 9328472) |
|
|
APP:
(Ile716Val; Florida APP)
|
|
ID: 39 | |
Edwards-Lee T, Wen J, Bell J et al. A presenilin-1 mutation (T245P) in transmembrane d... Neuroscience Letters 398: 251-252, 2006 (PubMed ID: 16469444) |
|
|
PSEN1:
(Thr245Pro)
|
|
ID: 386 | |
Edwards-Lee T, Ringman JM, Chung J et al. An African American family with early-onset Alzhei... Neurology 64: 377-379, 2005 (PubMed ID: 15668448) |
|
|
APP:
(Thr714Ile, Austrian APP)
|
|
ID: 370 | |
Ertekin-Taner N, Younkin LH, Yager DM et al. Plasma amyloid beta protein is elevated in late-on... Neurology 70: 596-606, 2008 (PubMed ID: 17914065) |
|
|
PSEN2:
(Arg62Cys)
(Arg62His)
|
|
ID: 684 | |
Ezquerra M, Lleo A, Castellvi M et al. A novel mutation in the PSEN2 gene (T430M) associa... Archives of Neurology 60: 1149-1151, 2003 (PubMed ID: 12925374) |
|
|
PSEN2:
(Thr430Met)
|
|
ID: 303 | |
Ezquerra M, Carnero C, Blesa R et al. A novel presenilin 1 mutation (Leu166Arg) associat... Archives of Neurology 57: 485-488, 2000 (PubMed ID: 10768621) |
|
|
PSEN1:
(Leu166Arg)
|
|
ID: 84 | |
Ezquerra M, Carnero C, Blesa R et al. A presenilin 1 mutation (Ser169Pro) associated wit... Neurology 52: 566-570, 1999 (PubMed ID: 10025789) |
|
|
PSEN1:
(Ser169Pro)
|
|
ID: 70 | |
Fang B, Jia L, Jia J. Chinese Presenilin-1 V97L mutation enhanced Abeta4... Neuroscience Letters 406: 33-37, 2006 (PubMed ID: 16916581) |
|
|
PSEN1:
(Val97Leu)
|
|
ID: 388 | |
Fang BY et al. The effect of two newly Chinese presenilin-1 mutat... Zhonghua Yi Xue Za Zhi 87: 336-340, 2007 (PubMed ID: 17456364) |
|
|
PSEN1:
(Val97Leu)
(Ala136Gly)
|
|
ID: 575 | |
Farlow MR, Murrell J,Unverzagt FW et al. Familial Alzheimer's disease with spastic parapare... Alzheimer's disease: advances in etiology, pathogenesis and therapeutics Chapter 6: 53-60, 2001 |
|
|
PSEN1:
(Val261Phe)
|
|
ID: 565 | |
Farlow MR, Murrell JR, Hulette CM et al. Hereditary lateral sclerosis and Alzheimer disease... Neurobiology of Aging 21 Supp1: S62, 2000 |
|
|
PSEN1:
(Val261Phe)
|
|
ID: 92 | |
Ferman TJ, McRae CA, Arvanitakis Z et al. Early and pre-symptomatic neuropsychological dysfu... Parkinsonism and Related Disorders 9: 265-270, 2003 (PubMed ID: 12781592) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 197 | |
Fernandez-Madrid I, Levy E, Marder K et al. Codon 618 variant of Alzheimer amyloid gene associ... Annals of Neurology 30: 730-733, 1991 (PubMed ID: 1763898) |
|
|
APP:
(Glu693Gln; Dutch APP)
|
|
ID: 138 | |
Ferrer I, Pastor P, Rey MJ et al. Tau phosphorylation and kinase activation in famil... Neuropathology and Applied Neurobiology 29: 23-34, 2003 (PubMed ID: 12581337) |
|
|
MAPT:
(ΔN296)
|
|
ID: 213 | |
Fidani L, Rooke K, Chartier-Harlin MC et al. Screening for mutations in the open reading frame... Human Molecular Genetics 1: 165-168, 1992 (PubMed ID: 1303172) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 44 | |
Finch N, Baker M, Crook R et al. Plasma progranulin levels predict progranulin muta... Brain 132: 583-591, 2009 (PubMed ID: 19158106) |
|
|
GRN:
(Gln130fs)
(Cys139Arg)
(Arg198fs)
(Ala324Thr)
(Arg433Trp)
(His447)
(IVS11-15_EX12+177del; Δ12)
(Pro578)
|
|
ID: 610 | |
Finckh U, Kuschel C, Anagnostouli M et al. Novel mutations and repeated findings of mutations... Neurogenetics 6: 85-89, 2005 (PubMed ID: 15776278) |
|
|
APP:
(Val717Ile; London APP)
(Val717Leu)
(Val717Phe)
|
|
ID: 354 | |
Finckh U, Alberici A, Antoniazzi M et al. Variable expression of familial Alzheimer disease... Neurology 54: 2006-2008, 2000 (PubMed ID: 10822446) |
|
|
PSEN2:
(Met239Ile)
|
|
ID: 85 | |
Finckh U, Muller-Thomsen T, Mann U et al. High Prevalence of Pathogenic Mutations in Patient... American Journal of human Genetics 66: 110-117, 2000 (PubMed ID: 10631141) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 68 | |
Forsell C, Froelich S, Axelman K et al. A novel pathogenic mutation (Leu262Phe) found in t... Neuroscience Letters 234: 3-6, 1997 (PubMed ID: 9347932) |
|
|
PSEN1:
(Leu262Phe)
|
|
ID: 28 | |
Forsell C et al. Amyloid precursor protein mutation at codon 713 (A... Neuroscience Letters 184: 90-93, 1995 (PubMed ID: 7724053) |
|
|
APP:
(Ala713Val)
|
|
ID: 160 | |
Fox NC, Kennedy AM, Harvey RJ et al. Clinicopathological features of familial Alzheimer... Brain 120: 491-501, 1997 (PubMed ID: 9126060) |
|
|
PSEN1:
(Met139Val)
|
|
ID: 81 | |
Frangipane F, Colao R, Mirabelli M et al. A novel progranulin mutation in a large frontotemp... Alzheimer's & Dementia 4 Supp 2: T604, 2008 |
|
|
GRN:
(Thr382fs)
|
|
ID: 606 | |
Furuya H, Yasuda M, Terasawa K et al. A novel mutation (L250V) in the presenilin 1 gene... Journal of the Neurological Sciences 209: 75-77, 2003 (PubMed ID: 12686406) |
|
|
PSEN1:
(Leu250Val)
|
|
ID: 167 | |
Galimberti D, Fenoglio C, Cortini F et al. Progranulin gene mutation scanning in Alzheimers... Alzheimer's & Dementia 4 Supp 2: T585, 2008 |
|
|
GRN:
(Gly35Arg)
|
|
ID: 550 | |
Gallo M, Marcello N, Curcio SA et al. A novel pathogenic PSEN1 mutation in a family with... Journal of Alzheimer's Disease 25: 425-431, 2011 (PubMed ID: 21422519) |
|
|
PSEN1:
(Ile143Val)
|
|
ID: 689 | |
Gallo M, Tomaino C, Puccio G et al. Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in... Neurological Sciences 31: 65-70, 2009 (PubMed ID: 19768372) |
|
|
MAPT:
(Val75Ala)
|
|
ID: 662 | |
Gallo M, Tomaino C, Bernardi L et al. PS1 polymporphism and a novel PS2 mutation in a pa... Alzheimer's & Dementia 4 Supp 2: T585, 2008 |
|
|
PSEN1:
(Glu318Gly)
|
|
ID: 607 | |
Gass J, Cannon A, Mackenzie IR et al. Mutations in progranulin are a major cause of ubiq... Human Molecular Genetics 15: 2988-3001, 2006 (PubMed ID: 16950801) |
|
|
GRN:
(Met1)
(Ala9Asp)
(Arg19Trp)
(Asp22fs)
(Cys31fs)
(Asp33)
(Gly35fs)
(IVS2+1G>A)
(Thr52fs)
(Gly79fs)
(Glu88)
(Cys105Arg)
(Asp128)
(Gln130fs)
(Ala155fs)
(Ser226fs)
(Asn236)
(Val200fs)
(Cys253X)
(Val279fs;IVS8-1G>C)
(Glu287Asp)
(Ser301)
(Trp304fs)
(Trp304X)
(Val279fs)
(Ala324Thr)
(Gly333fs)
(Thr382fs)
(Trp386X)
(Arg418X)
(Arg418Gln)
(Arg433Trp)
(Cys466fs)
(Cys474)
(Arg493X)
(Gly515Ala)
|
|
ID: 407 | |
Geschwind D, Karrim J, Nelson SF et al. The apolipoprotein E epsilon4 allele is not a sign... Annals of Neurology 44: 134-138, 1998 (PubMed ID: 9667603) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 251 | |
Ghetti B, Hake AM, Murrell JR et al. Familial Alzheimer disease associated with the V71... Alzheimer's & Dementia 4 Supp 2: T585, 2008 |
|
|
APP:
(Val717Leu)
|
|
ID: 549 | |
Ghetti B, Spina S, Murrell JR et al. In vivo and postmortem clinicoanatomical correlati... Neurodegenerative Diseases 5: 215-217, 2008 (PubMed ID: 18322394) |
|
|
GRN:
(Ala9Asp)
(Ala237fs)
(Arg493X)
|
|
ID: 506 | |
Ghetti B, Murrell JR, Zolo P et al. Progress in hereditary tauopathies: a mutation in... Proceedings of the National Academy of Sciences USA 920: 52-62, 2000 (PubMed ID: 11193177) |
|
|
MAPT:
(Gly389Arg)
|
|
ID: 241 | |
Giaccone G, Rossi G, Farina L et al. Familial frontotemporal dementia associated with t... Journal of Neurology 252: 1543-1545, 2005 (PubMed ID: 15940384) |
|
|
MAPT:
(Thr427Met)
|
|
ID: 356 | |
Giaccone G, Rossi G, Di Fede G et al. Familial Frontotemporal dementia is associated wit... Neurobiology of Aging 25 (S2): 449-450, 2004 |
|
|
MAPT:
(Thr427Met)
|
|
ID: 331 | |
Giaccone G, Rossi G, Morbin M et al. A713T mutation of the APP gene in an Italian famil... Neurobiology of Aging 23 Supp 1: 320, 2002 |
|
|
APP:
(Ala713Thr)
|
|
ID: 564 | |
Gidaro T, Modoni A, Sabatelli M et al. An Italian family with inclusion-body myopathy and... Muscle & Nerve 37: 111-114, 2008 (PubMed ID: 17763460) |
|
|
VCP:
(Arg155Cys)
|
|
ID: 487 | |
Gijselinck I, Van Langenhove T, van der Zee J et al. A C9orf72 promoter repeat expansion in a Flanders-... The Lancet Neurology 11: 54-65, 2012 (PubMed ID: 22154785) |
|
|
C9orf72:
(G4C2 hexanucleotide repeat expansion)
|
|
ID: 692 | |
Gijselinck I, Sleegers K, Engelborghs S et al. Neuronal inclusion protein TDP-43 has no primary g... Neurobiology of Aging 30: 1329-1331, 2009 (PubMed ID: 18068872) |
|
|
TARDBP:
(Ala66)
(Tyr214)
|
|
ID: 605 | |
Gijselinck I, Van Broeckhoven C, Cruts M. Granulin mutations associated with frontotemporal... Human Mutation 29: 1373-1386, 2008 (PubMed ID: 18543312) |
|
|
GRN:
(Phe86fs)
(Ala89fs;IVS3+2T>C)
(Asn118fs)
(Ala303fs)
|
|
ID: 543 | |
Gijselinck I, van der Zee J, Engelborghs S et al. Progranulin locus deletion in frontotemporal demen... Human Mutation 29: 53-58, 2008 (PubMed ID: 18157829) |
|
|
GRN:
(delGRN[DR184])
|
|
ID: 499 | |
Giliberto L, Assubu A, Borghi R et al. Pure spastic paraparesis associated with a novol p... Neurobiology of Aging 23 (1S): S315-S316, 2002 |
|
|
PSEN1:
(Arg278Lys)
|
|
ID: 134 | |
Gitcho MA, Baloh RH, Chakraverty S et al. TDP-43 A315T mutation in familial motor neuron dis... Alzheimer's & Dementia 4 Supp 2: T606, 2008 |
|
|
TARDBP:
(Ala315Thr)
|
|
ID: 594 | |
Gitcho MA, Baloh RH, Chakraverty S et al. TDP-43 A315T mutation in familial motor neuron dis... Annals of Neurology 63: 535-538, 2008 (PubMed ID: 18288693) |
|
|
TARDBP:
(Ala66)
(Ala315Thr)
|
|
ID: 590 | |
Gliebus G, Rosso A, Lippa CF. Progranulin and beta-amyloid distribution: a case... American Journal of Alzheimer's Disease & Other Dementias 24: 456-460, 2009 (PubMed ID: 19776335) |
|
|
PSEN1:
(Ala246Glu)
|
|
ID: 665 | |
Goate A, Chartier-Harlin MC, Mullan M et al. Segregation of a missense mutation in the amyloid... Nature 349: 704-706, 1991 (PubMed ID: 1671712) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 41 | |
Godbolt AK, Beck JA, Collinge JC et al. A second family with familial AD and the V717L APP... Neurology 66: 611-612, 2006 (PubMed ID: 16505331) |
|
|
APP:
(Val717Leu)
|
|
ID: 434 | |
Godbolt AK, Beck JA, Collinge J et al. A presenilin 1 R278I mutation presenting with lang... Neurology 63: 1702-1704, 2004 (PubMed ID: 15534260) |
|
|
PSEN1:
(Arg278Ile)
|
|
ID: 340 | |
Goedert M, Spillantini MG, Crowther RA et al. Tau gene mutation in familial progressive subcorti... Nature Medicine 5: 454-457, 1999 (PubMed ID: 10202939) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 277 | |
Golan M, Lipczynska-Lojkowska W, Krzysko KA et al. Two novel mutations in presenilin 1 (PSEN1) gene c... Alzheimer's and Parkinson's Diseases: Insights, Progress and Perspectives. 7th International Conference AD/PD 2005 Book of Abstracts : 24, 2005 |
|
|
PSEN1:
(Leu226Phe)
(Leu424His)
|
|
ID: 459 | |
Golan MP, Styczynska M, Józwiak K et al. Early-onset Alzheimer's disease with a de novo mut... Experimental Neurology 208: 264-268, 2007 (PubMed ID: 17931627) |
|
|
PSEN1:
(Ser170Phe)
|
|
ID: 475 | |
Golan MP, Styczynska M, Pniewski J et al. The patient with de novo S170F presenilin 1 gene m... Neurodegenerative Diseases 4 Supp 1: 28, 2007 |
|
|
PSEN1:
(Ser170Phe)
|
|
ID: 457 | |
Goldman JS, Johnson JK, McElligott K et al. Presenilin 1 Glu318Gly polymorphism: interpret wit... Archives of Neurology 62: 1624-1627, 2005 (PubMed ID: 16216949) |
|
|
PSEN1:
(Glu318Gly)
|
|
ID: 573 | |
Goldman JS, Reed B, Gearhart R et al. Very early-onset familial Alzheimer's disease: a n... International Journal of Geriatric Psychiatry 17: 649-651, 2002 (PubMed ID: 12112163) |
|
|
PSEN1:
(Gly206Val)
|
|
ID: 166 | |
Gomez-Isla T, Wasco W, Pettingell WP et al. A novel presenilin-1 mutation: increased beta-amyl... Annals of Neurology 41: 809-813, 1997 (PubMed ID: 9189043) |
|
|
PSEN1:
(Arg269His)
|
|
ID: 31 | |
Gómez-Tortosa E, Barquero S, Barón M et al. Clinical-genetic correlations in familial Alzheime... Journal of Alzheimer's Disease 19: 873-884, 2010 (PubMed ID: 20157243) |
|
|
PSEN1:
(Phe105Val)
(Pro117Arg)
(Glu120Gly)
(His163Arg)
(Leu226Phe)
(Val261Leu)
(Val272Ala)
(Leu282Arg)
(Ile439Ser)
|
|
ID: 657 | |
Gómez-Tortosa E, Manzano S, Muñoz DG et al. Clinical phenotype of familial Alzheimers disease... Alzheimer's & Dementia 4 Supp 2: T586, 2008 |
|
|
PSEN1:
(His163Arg)
|
|
ID: 548 | |
Grabowski TJ, Cho HS, Vonsattel JP et al. Novel amyloid precursor protein mutation in an Iow... Annals of Neurology 49: 697-705, 2001 (PubMed ID: 11409420) |
|
|
APP:
(Asp694Asn; Iowa APP)
|
|
ID: 111 | |
Greenberg SM, Shin Y, Grabowski TJ et al. Hemorrhagic stroke associated with the Iowa amyloi... Neurology 60: 1020-1022, 2003 (PubMed ID: 12654973) |
|
|
APP:
(Asp694Asn; Iowa APP)
|
|
ID: 347 | |
Groen EJ, van Es MA, van Vught PW et al. FUS mutations in familial amyotrophic lateral scle... Archives of Neurology 67: 224-230, 2010 (PubMed ID: 20142531) |
|
|
FUS:
(Gln210His)
(Ser462Phe)
(Arg521Cys)
(Arg521His)
|
|
ID: 644 | |
Groen JJ et al. Hereditary Pick's disease: second re-examination o... Brain 105: 443-459, 1982 (PubMed ID: 7104662) |
|
|
MAPT:
(Gly272Val)
|
|
ID: 185 | |
Grover A, England E, Baker M et al. A novel tau mutation in exon 9 (1260V) causes a fo... Experimental Neurology 184: 131-140, 2003 (PubMed ID: 14637086) |
|
|
MAPT:
(Ile260Val)
|
|
ID: 181 | |
Guardia-Laguarta C, Pera M, Clarimón J et al. Clinical, neuropathologic, and biochemical profile... Journal of Neuropathology and Experimental Neurology 69: 53-59, 2010 (PubMed ID: 20010303) |
|
|
APP:
(Ile716Phe)
|
|
ID: 679 | |
Guerreiro RJ, Baquero M, Blesa R et al. Genetic screening of Alzheimer's disease genes in... Neurobiology of Aging 31: 725-731, 2010 (PubMed ID: 18667258) |
|
|
APP:
(Ile716Phe)
(His733Pro)
|
|
ID: 538 | |
Guerreiro RJ, Washecka N, Hardy J et al. A thorough assessment of benign genetic variabilit... Human Mutation 31: E1126-E1140, 2010 (PubMed ID: 20020531) |
|
|
GRN:
(Leu14)
(Arg19Trp)
(Asp33)
(Arg55Trp)
(Ala69Thr)
(Thr76)
(Ala89)
(Asp108)
(Asn119del)
(Ser120Tyr)
(Asp128)
(Pro134)
(Ala169)
(Thr182Met)
(Thr182)
(Cys221Ser)
(Ser262)
(Asp376Asn)
(Ser398Leu)
(Thr409)
(Arg433Gln)
(Ala505)
(Gly515Ala)
(Asp518)
(Arg564His)
(Cys565)
|
|
ID: 641 | |
Guerreiro RJ, Schymick JC, Crews C et al. TDP-43 is not a common cause of sporadic amyotroph... PLoS One 3: e2450, 2009 (PubMed ID: 18545701) |
|
|
TARDBP:
(Ala66)
(Ala90Val)
(Ala315)
(Asn352)
|
|
ID: 604 | |
Guerreiro RJ, Santana I, Bras JM et al. Novel progranulin mutation: Screening for PGRN mut... Movement Disorders 23: 1269-1273, 2008 (PubMed ID: 18464284) |
|
|
GRN:
(Leu14)
(Asp128)
(Thr182Met)
(Gly302fs)
|
|
ID: 526 | |
Guo J, Wei J, Liao S et al. A novel presenilin 1 mutation (Ser169del) in a Chi... Neuroscience Letters 468: 34-37, 2010 (PubMed ID: 19853643) |
|
|
PSEN1:
(Ser169del;ΔS169;ΔS170)
|
|
ID: 664 | |
Gustafson L, Brun A, Englund E et al. A 50-year perspective of a family with chromosome-... Human Genetics 102: 253-257, 1998 (PubMed ID: 9544835) |
|
|
PSEN1:
(Met146Ile)
|
|
ID: 72 | |
Guyant-Marechal I, Berger E, Laquerrière A et al. Intrafamilial diversity of phenotype associated wi... Neurology 71: 1925-1926, 2008 (PubMed ID: 19047566) |
|
|
APP:
(dupAPP)
|
|
ID: 585 | |
Guyant-Maréchal L, Laquerrière A, Duyckaerts C et al. Valosin-containing protein gene mutations: clinica... Neurology 67: 644-651, 2006 (PubMed ID: 16790606) |
|
|
VCP:
(Arg93Cys)
(Arg155Cys)
|
|
ID: 482 | |
Halliday GM, Song YJ, Lepar G et al. Pick bodies in a family with presenilin-1 Alzheime... Annals of Neurology 57: 139-143, 2005 (PubMed ID: 15622541) |
|
|
PSEN1:
(Met146Leu)
(Δ9)
(Δ9)
|
|
ID: 385 | |
Hamaguchi T, Morinaga A, Tsukie T et al. A novel presenilin 1 mutation (L282F) in familial... Journal of Neurology 256: 1575-1577, 2009 (PubMed ID: 19430857) |
|
|
PSEN1:
(Leu282Phe)
|
|
ID: 608 | |
Hardy J, Mullan M, Chartier-Harlin M-C et al. Molecular classification of Alzheimer's disease. The Lancet 337: 1342-1343, 1991 (PubMed ID: 1674311) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 45 | |
Harvey RJ, Ellison D, Hardy J et al. Chromosome 14 familial Alzheimer's disease: the cl... Journal of Neurology, Neurosurgery and Psychiatry 64: 44-49, 1998 (PubMed ID: 9436726) |
|
|
PSEN1:
(Leu250Ser)
|
|
ID: 80 | |
Hattori S, Sakuma K, Wakutani Y et al. A novel presenilin 1 mutation (Y154N) in a patient... Neuroscience Letters 368: 319-322, 2004 (PubMed ID: 15364419) |
|
|
PSEN1:
(Tyr154Asn)
|
|
ID: 332 | |
Haubenberger D, Bittner RE, Rauch-Shorny S et al. Inclusion body myopathy and Paget disease is linke... Neurology 65: 1304-1305, 2005 (PubMed ID: 16247064) |
|
|
VCP:
(Arg159His)
|
|
ID: 479 | |
Hayashi S, Toyoshima Y, Hasegawa M et al. Late-onset frontotemporal dementia with a novel ex... Annals of Neurology 51: 525-530, 2002 (PubMed ID: 11921059) |
|
|
MAPT:
(Arg5His)
|
|
ID: 177 | |
Heckmann J, de Viliers C, Rutherfoord S et al. Novel presenilin 1 mutation with profound neurofib... Neurobiology of Aging 23 (1S): S321, 2002 |
|
|
PSEN1:
(Ile143Met)
|
|
ID: 130 | |
Helisalmi S, Hiltunen M, Mannermaa A et al. Is the presenilin-1 E318G missense mutation a risk... Neuroscience Letters 278: 65-68, 2000 (PubMed ID: 10643802) |
|
|
PSEN1:
(Glu318Gly)
|
|
ID: 164 | |
Hendriks L, van Duijn CM, Cras P et al. Presenile dementia and cerebral haemorrhage linked... Nature Genetics 1: 218-221, 1992 (PubMed ID: 1303239) |
|
|
APP:
(Ala692Gly; Flemish APP)
|
|
ID: 38 | |
Heutink P, Stevens M, Rizzu P et al. Hereditary frontotemporal dementia is linked to ch... Annals of neurology 41: 150-159, 1997 (PubMed ID: 9029063) |
|
|
MAPT:
(Gly272Val)
|
|
ID: 186 | |
Hewitt C, Kirby J, Highley JR et al. Novel FUS/TLS mutations and pathology in familial... Archives of Neurology 67: 455-461, 2010 (PubMed ID: 20385912) |
|
|
FUS:
(Gly174_Gly175del; delGG)
(Gly228_Gly230delGGG)
(Gly507Asp)
(Arg524Trp)
|
|
ID: 675 | |
Higgins JJ, Golbe LI, De Biase A et al. An extended 5'-tau susceptibility haplotype in pro... Neurology 55: 1364-1367, 2000 (PubMed ID: 11087782) |
|
|
MAPT:
(Asp285Asn)
(Val289Ala)
(EX8 Thr2)
|
|
ID: 310 | |
Higgins JJ, Adler RL, Loveless JM. Mutational analysis of the tau gene in progressive... Neurology 53: 1421-1424, 1999 (PubMed ID: 10534245) |
|
|
MAPT:
(Asp285Asn)
(Val289Ala)
(EX8 Thr2)
|
|
ID: 308 | |
Higuchi S, Yoshino A, Matsui T et al. A novel PS1 Mutation (W165G) in a Japanese family... Alzheimer's Reports 3: 227-231, 2000 |
|
|
PSEN1:
(Trp165Gly)
|
|
ID: 102 | |
Hiltunen M, Helisalmi S, Mannermaa A et al. Identification of a novel 4.6-kb genomic deletion... European Journal of Human Genetics 8: 259-266, 2000 (PubMed ID: 10854108) |
|
|
PSEN1:
(Δ9Finn)
|
|
ID: 90 | |
Hogg M, Grujic ZM, Baker M et al. The L266V tau mutation is associated with frontote... Acta Neuropathologica 106: 323-336, 2003 (PubMed ID: 12883828) |
|
|
MAPT:
(Leu266Val)
|
|
ID: 184 | |
Houlden H, Crook R, Dolan RJ et al. A novel presenilin mutation (M233V) causing very e... Neuroscience Letters 313: 93-95, 2001 (PubMed ID: 11684347) |
|
|
PSEN1:
(Met233Val)
|
|
ID: 114 | |
Houlden H, Baker M, McGowan E et al. Variant Alzheimer's disease with spastic parapares... Annals of Neurology 48: 806-808, 2000 (PubMed ID: 11079548) |
|
|
PSEN1:
(ΔI83/M84)
(Δ9Finn)
(Pro436Gln)
|
|
ID: 168 | |
Houlden H, Baker M, Adamson J et al. Frequency of tau mutations in three series of non-... Annals of Neurology 46: 243-248, 1999 (PubMed ID: 10443890) |
|
|
MAPT:
(Tyr18)
(Thr39)
(Ala178Thr)
(Ala227)
(Asn255)
(Pro270)
(Pro301Leu)
(IVS10+13A>G)
(IVS10+16C>T)
|
|
ID: 253 | |
Hübbers CU, Clemen CS, Kesper K et al. Pathological consequences of VCP mutations on huma... Brain 130: 381-393, 2007 (PubMed ID: 16984901) |
|
|
VCP:
(Arg93Cys)
(Arg155Cys)
(Arg155His)
|
|
ID: 649 | |
Huey ED, Grafman J, Wassermann EM et al. Characteristics of frontotemporal dementia patient... Annals of Neurology 60: 374-380, 2006 (PubMed ID: 16983677) |
|
|
GRN:
(Arg493X)
|
|
ID: 414 | |
Hulette CM, Pericak-Vance MA, Roses AD et al. Neuropathological features of frontotemporal demen... Journal of Neuropathology and Experimental Neurology 58: 859-866, 1999 (PubMed ID: 10446810) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 278 | |
Hüll M, Fiebich BL, Dykierek P et al. Early-onset Alzheimer's disease due to mutations o... European Archives of Psychiatry and Clinical Neuroscience 248: 123-129, 1998 (PubMed ID: 9728730) |
|
|
PSEN1:
(Met139Val)
|
|
ID: 73 | |
Hutton M. "Missing" tau mutation identified. Annals of Neurology 47: 417-418, 2000 (PubMed ID: 10762149) |
|
|
MAPT:
(IVS10+12C>T)
|
|
ID: 270 | |
Hutton M, Lendon CL, Rizzu P et al. Association of missense and 5'-splice-site mutatio... Nature 393: 702-705, 1998 (PubMed ID: 9641683) |
|
|
MAPT:
(Gly272Val)
(Pro301Leu)
(IVS10+13A>G)
(IVS10+14C>T)
(IVS10+16C>T)
(Arg406Trp)
|
|
ID: 187 | |
Hutton M, Busfield F, Wragg M et al. Complete analysis of the presenilin 1 gene in earl... Neuroreport 7: 801-805, 1996 (PubMed ID: 8733749) |
|
|
PSEN1:
(Glu120Lys)
(Met139Val)
(Leu250Ser)
(Pro267Ser)
(Glu280Gly)
(Δ9)
|
|
ID: 9 | |
Iijima M, Tabira T, Poorkaj P et al. A distinct familial presenile dementia with a nove... Neuroreport 10: 497-501, 1999 (PubMed ID: 10208578) |
|
|
MAPT:
(Ser305Asn)
|
|
ID: 228 | |
Ikeda M, Sharma V, Sumi SM et al. The clinical phenotype of two missense mutations i... Annals of Neurology 40: 912-917, 1996 (PubMed ID: 9007097) |
|
|
PSEN1:
(Ala260Val)
(Ala285Val)
|
|
ID: 449 | |
Ikeuchi T, Kaneko H, Miyashita A et al. Mutational analysis in early-onset familial dement... Dementia and geriatric cognitive disorders 26: 43-49, 2008 (PubMed ID: 18587238) |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 545 | |
Ingelson M, Fabre SF, Lilius L et al. Increased risk for frontotemporal dementia through... Neuroreport 12: 905-909, 2001 (PubMed ID: 11303757) |
|
|
MAPT:
(Pro202Leu)
(Asp285Asn)
(Val289Ala)
(Arg370Trp)
(EX6 Ser53Pro)
(EX8 Thr2)
(Ala227)
(Asn255)
|
|
ID: 309 | |
Iseki E, Matsumura T, Marui W et al. Familial frontotemporal dementia and parkinsonism... Acta Neuropathologica 102: 285-292, 2001 (PubMed ID: 11585254) |
|
|
MAPT:
(Asn296His)
|
|
ID: 215 | |
Ishikawa A, Piao YS, Miyashita A et al. A mutant PSEN1 causes dementia with Lewy bodies an... Annals of Neurology 57: 429-434, 2005 (PubMed ID: 15732120) |
|
|
PSEN1:
(ΔT440)
|
|
ID: 371 | |
Jacquemont ML, Campion D, Hahn V et al. Spastic paraparesis and atypical dementia caused b... Journal of Medical Genetics 39: E2, 2002 (PubMed ID: 11836371) |
|
|
PSEN1:
(Pro264Leu)
|
|
ID: 121 | |
Jacquier M, Arango D, Torres O et al. Presenilin mutations in a Colombian familial and s... Neurobiology of Aging 21 Supp1: S176, 2000 |
|
|
PSEN1:
(Val94Met)
(Glu280Ala)
|
|
ID: 96 | |
Janssen JC, Beck JA, Campbell TA et al. Early onset familial Alzheimer's disease: Mutation... Neurology 60: 235-239, 2003 (PubMed ID: 12552037) |
|
|
APP:
(His677Arg)
(Val715Ala; German APP)
(Val717Ile; London APP)
|
|
ID: 149 | |
Janssen JC, Beck JA, Campbell TA et al. Early onset familial Alzheimer's disease: mutation... Neurobiology of Aging 23 (1S): S311, 2002 |
|
|
APP:
(Val715Ala; German APP)
(Val717Ile; London APP)
|
|
ID: 132 | |
Janssen JC, Warrington EK, Morris HR et al. Clinical features of frontotemporal dementia due t... Neurology 58: 1161-1168, 2002 (PubMed ID: 11971081) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 279 | |
Janssen JC, Lantos PL, Fox NC et al. Autopsy-confirmed familial early-onset Alzheimer d... Archives of Neurology 58: 953-958, 2001 (PubMed ID: 11405810) |
|
|
PSEN1:
(Leu153Val)
|
|
ID: 120 | |
Jia J, Xu E, Shao Y et al. One novel presenilin-1 gene mutation in a Chinese... Journal of Alzheimer's Disease 7: 119-124, 2005 (PubMed ID: 15851849) |
|
|
PSEN1:
(Val97Leu)
|
|
ID: 387 | |
Jiménez Caballero PE, de Diego Boguna C, Martin Correa E et al. A novel presenilin 1 mutation (V261L) associated w... European Journal of Neurology 15: 991-994, 2008 (PubMed ID: 18637955) |
|
|
PSEN1:
(Val261Leu)
|
|
ID: 535 | |
Jimenez-Escrig A, Rabano A, Guerrero C et al. New V272A presenilin 1 mutation with very early on... European Journal of Neurology 11: 663-669, 2004 (PubMed ID: 15469450) |
|
|
PSEN1:
(Val272Ala)
|
|
ID: 337 | |
Jimenez-Escrig A. . Personal Communication : , 2002 |
|
|
PSEN1:
(Val272Ala)
|
|
ID: 144 | |
Jimenez-Escrig A, Rabano A, Guerrero C et al. Clinicopathological report of a new (V272A) presen... Neurobiology of Aging 23 (1S): S343, 2002 |
|
|
PSEN1:
(Val272Ala)
|
|
ID: 131 | |
Jones CT, Morris S, Yates CM et al. Mutation in codon 713 of the beta amyloid precurso... Nature Genetics 1: 306-309, 1992 (PubMed ID: 1307241) |
|
|
APP:
(Ala713Val)
|
|
ID: 159 | |
Jorgensen P, Bus C, Pallisgaard N et al. Familial Alzheimer's disease co-segregates with a... Clinical Genetics 50: 281-286, 1996 (PubMed ID: 9007311) |
|
|
PSEN1:
(Met146Ile)
|
|
ID: 15 | |
Kabashi E, Valdmanis PN, Dion P et al. TARDBP mutations in individuals with sporadic and... Nature Genetics 40: 572-574, 2008 (PubMed ID: 18372902) |
|
|
TARDBP:
(Ala66)
(Ala90Val)
(Asp169Gly)
(Gly287Ser)
(Ala315Thr)
(Ala315)
(Gly348Cys)
(Arg361Ser)
(Ala382Thr)
(Asn390Asp)
(Asn390Ser)
|
|
ID: 599 | |
Kaivorinne AL, Krüger J, Udd B et al. Mutations in CHMP2B are not a cause of frontotempo... European Journal of Neurology 17: 1393-1395, 2010 (PubMed ID: 20412296) |
|
|
CHMP2B:
(Thr9)
(Thr104)
(Thr124)
|
|
ID: 674 | |
Kaleem M, Zhao A, Hamshere M et al. Identification of a novel valosin-containing prote... Neurodegenerative Diseases 4: 376-381, 2007 (PubMed ID: 17622780) |
|
|
VCP:
(Arg95His)
|
|
ID: 489 | |
Kamada M, Maruyama H, Tanaka E et al. Screening for TARDBP mutations in Japanese familia... Journal of the Neurological Sciences 284: 69-71, 2009 (PubMed ID: 19411082) |
|
|
TARDBP:
(Asn352Ser)
(Ala366)
|
|
ID: 597 | |
Kamimura K, Tanahashi H, Yamanaka H et al. Familial Alzheimer's disease genes in Japanese. Journal of the Neurological Sciences 160: 76-81, 1998 (PubMed ID: 9804121) |
|
|
PSEN1:
(His163Arg)
(Arg269His)
(Glu273Ala)
(Gly384Ala)
|
|
ID: 58 | |
Kamino K, Sato S, Sakaki Y et al. Three different mutations of presenilin 1 gene in... Neuroscience Letters 208: 195-198, 1996 (PubMed ID: 8733303) |
|
|
PSEN1:
(Val96Phe)
(His163Arg)
(Ile213Thr)
|
|
ID: 4 | |
Kamino K, Orr HT, Payami H et al. Linkage and mutational analysis of familial Alzhei... American Journal of Human Genetics 51: 998-1014, 1992 (PubMed ID: 1415269) |
|
|
APP:
(Glu693Gly; Arctic APP)
|
|
ID: 101 | |
Kasuga K, Ohno T, Ishihara T et al. Depression and psychiatric symptoms preceding onse... Journal of Neurology 256: 1351-1353, 2009 (PubMed ID: 19280102) |
|
|
PSEN1:
(Leu173Phe)
|
|
ID: 586 | |
Kauwe JS, Wang J, Chakraverty S et al. Novel presenilin 1 variant (P117A) causing Alzheim... Neuroscience Letters 438: 257-259, 2008 (PubMed ID: 18479822) |
|
|
PSEN1:
(Pro117Ala)
|
|
ID: 521 | |
Kauwe JS, Jacquart S, Chakraverty S et al. Extreme cerebrospinal fluid amyloid beta levels id... Annals of Neurology 61: 446-453, 2007 (PubMed ID: 17366635) |
|
|
PSEN1:
(Ala79Val)
|
|
ID: 531 | |
Kawai J, Sasahara M, Hazama F et al. Pallidonigroluysian degeneration with iron deposit... Acta Neuropathologica 86: 609-616, 1993 (PubMed ID: 8310816) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 202 | |
Kelley BJ, Haidar W, Boeve BF et al. Alzheimer disease-like phenotype associated with t... Archives of Neurology 67: 171-177, 2010 (PubMed ID: 20142525) |
|
|
GRN:
(Thr52Hisfs)
|
|
ID: 673 | |
Kelley BJ, Haidar W, Boeve BF et al. Prominent phenotypic variability associated with m... Neurobiology of Aging 30: 739-751, 2009 (PubMed ID: 17949857) |
|
|
GRN:
(Ala9Asp)
(IVS2+1G>A)
(Thr52fs)
(Trp304fs)
(Gly333fs)
(Thr382fs)
(Cys466fs)
(Arg493X)
|
|
ID: 504 | |
Kim EJ, Park YE, Kim DS et al. Inclusion body myopathy with Paget disease of bone... Archives of Neurology 68: 787-796, 2011 (PubMed ID: 21320982) |
|
|
VCP:
(Arg155Cys)
|
|
ID: 700 | |
Kim HJ, Kim HY, Ki CS et al. Presenilin 1 gene mutation (M139I) in a patient wi... Neurological Sciences 31: 781-783, 2010 (PubMed ID: 20213228) |
|
|
PSEN1:
(Met139Ile)
|
|
ID: 645 | |
Kimonis VE, Fulchiero E, Vesa J et al. VCP disease associated with myopathy, Paget diseas... Biochimica et Biophysica Acta 1782: 744-748, 2008 (PubMed ID: 18845250) |
|
|
VCP:
(Arg95Cys)
|
|
ID: 648 | |
Kirby J, Goodall EF, Smith W et al. Broad clinical phenotypes associated with TAR-DNA... Neurogenetics 11: 217-225, 2010 (PubMed ID: 19760257) |
|
|
TARDBP:
(Leu27)
(Ala66)
(Ala90Val)
(Ser104)
(Lys137)
(Gly287Ser)
(Ala321Val)
(Met337Val)
(Gly348Val)
|
|
ID: 653 | |
Klunemann HH, Rogaeva E, Neumann M et al. Novel PS1 mutation in a Bavarian kindred with fami... Alzheimer disease and associated disorders 18: 256-258, 2004 (PubMed ID: 15592140) |
|
|
PSEN1:
(Leu174Arg)
|
|
ID: 373 | |
Knight W, Foster J, Ahsan L et al. An unusual, APPV717G-associated familial Alzheimer... Alzheimer's & Dementia 4 Supp 2: T83, 2008 |
|
|
APP:
(Val717Gly)
|
|
ID: 547 | |
Knight WD, Ahsan RL, Jackson J et al. Pure progressive amnesia and the APPV717G mutation. Alzheimer disease and associated disorders 23: 410-414, 2009 (PubMed ID: 19950418) |
|
|
APP:
(Val717Gly)
|
|
ID: 681 | |
Knight WD, Kennedy J, Mead S et al. A novel presenilin 1 deletion (p.L166del) associat... European Journal of Neurology 14: 829-831, 2007 (PubMed ID: 17594345) |
|
|
PSEN1:
(Leu166del)
|
|
ID: 448 | |
Kobayashi K, Kidani T, Ujike H et al. Another phenotype of frontotemporal dementia and p... Journal of Neurology 250: 990-992, 2003 (PubMed ID: 12928922) |
|
|
MAPT:
(Ser305Asn)
|
|
ID: 229 | |
Kobayashi K, Hayashi M, Kidani T et al. Pick's disease in 2 brothers with S305N mutation:... Clinical Neuropathology 21: 191-193, 2002 (PubMed ID: 12143928) |
|
|
MAPT:
(Ser305Asn)
|
|
ID: 336 | |
Kobayashi K, Hayashi M, Fukutani Y et al. KP1 expression of ghost Pick bodies, amyloid P-pos... Clinical Neuropathology 18: 240-249, 1999 (PubMed ID: 10505433) |
|
|
MAPT:
(Ser305Asn)
|
|
ID: 335 | |
Kobayashi K, Hayashi M, Kidani T et al. Pick's disease pathology of a missense mutation of... Dementia and Geriatric Cognitive Disorders 17: 293-297, 2004 (PubMed ID: 15178939) |
|
|
MAPT:
(Ser305Asn)
|
|
ID: 326 | |
Kobayashi T, Ota S, Tanaka K et al. A novel L266V mutation of the tau gene causes fron... Annals of Neurology 53: 133-137, 2003 (PubMed ID: 12509859) |
|
|
MAPT:
(Leu266Val)
|
|
ID: 183 | |
Kobayashi T, Mori H, Okuma Y et al. Contrasting genotypes of the tau gene in two pheno... Journal of Neurology 249: 669-67, 2002 (PubMed ID: 12111297) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 254 | |
Kodama K, Okada S, Iseki E et al. Familial frontotemporal dementia with a P301L tau... Journal of the Neurological Sciences 176: 57-64, 2000 (PubMed ID: 10865093) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 255 | |
Kovacs GG, Murrell JR, Horvath S et al. TARDBP variation associated with frontotemporal de... Movement Disorders 24: 1843-1847, 2009 (PubMed ID: 19609911) |
|
|
TARDBP:
(Lys263Glu)
|
|
ID: 602 | |
Kovacs GG, Pittman A, Revesz T et al. MAPT S305I mutation: implications for argyrophilic... Acta Neuropathologica 116: 103-118, 2008 (PubMed ID: 18066559) |
|
|
MAPT:
(Ser305Ile)
|
|
ID: 525 | |
Kowalska A, Pruchnik-Wolinska D, Florczak J et al. Genetic study of familial cases of Alzheimer's dis... Acta Biochimica Polonica 51: 245-252, 2004 (PubMed ID: 15094846) |
|
|
PSEN1:
(Ala246Glu)
(Pro267Leu)
(Leu424Arg)
|
|
ID: 321 | |
Kowalska A, Pruchnik-Wolinska D, Florczak J et al. Presenilin 1 mutations in Polish families with ear... Folia Neuropathologica 42: 9-14, 2004 (PubMed ID: 15119739) |
|
|
PSEN1:
(Ala246Glu)
(Pro267Leu)
(Leu424Arg)
|
|
ID: 333 | |
Kowalska A, Wender M, Florczak J et al. Molecular genetics of Alzheimer's disease: preseni... Journal of Applied Genetics 44: 231-234, 2003 (PubMed ID: 12817569) |
|
|
PSEN1:
(Ala246Glu)
(Pro267Leu)
(Leu424Arg)
|
|
ID: 171 | |
Kowalska A, Hasegawa M, Miyamoto K et al. A novel mutation at position +11 in the intron fol... Journal of Applied Genetics 43: 535-543, 2002 (PubMed ID: 12441638) |
|
|
MAPT:
(IVS10+11T>C)
|
|
ID: 268 | |
Kowalska A, Asada T, Arima K et al. Genetic analysis in patients with familial and spo... Dementia and Geriatric Cognitive Disorders 12: 387-392, 2001 (PubMed ID: 11598310) |
|
|
MAPT:
(Pro176)
(EX8 Thr2)
(Asn279Lys)
(Pro301Leu)
|
|
ID: 256 | |
Krause S, Göhringer T, Walter MC et al. Brain imaging and neuropsychology in late-onset de... Clinical Neuropathology 26: 232-240, 2007 (PubMed ID: 17907600) |
|
|
VCP:
(Arg93Cys)
|
|
ID: 486 | |
Kühnlein P, Sperfeld AD, Vanmassenhove B et al. Two German kindreds with familial amyotrophic late... Archives of Neurology 65: 1185-1189, 2008 (PubMed ID: 18779421) |
|
|
TARDBP:
(Gly348Cys)
(Asn352Ser)
|
|
ID: 601 | |
Kumar KR, Needham M, Mina K et al. Two Australian families with inclusion-body myopat... Neuromuscular Disorders 20: 330-334, 2010 (PubMed ID: 20335036) |
|
|
VCP:
(Arg155Leu)
(Leu198Trp)
|
|
ID: 677 | |
Kumar-Singh S, Cras P, Wang R et al. Dense-core senile plaques in the Flemish variant o... American Journal of Pathology 161: 507-520, 2002 (PubMed ID: 12163376) |
|
|
APP:
(Ala692Gly; Flemish APP)
|
|
ID: 174 | |
Kumar-Singh S, De Jonghe C, Cruts M et al. Nonfibrillar diffuse amyloid deposition due to a g... Human Molecular Genetics 9: 2589-2598, 2000 (PubMed ID: 11063718) |
|
|
APP:
(Thr714Ile, Austrian APP)
|
|
ID: 106 | |
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL et al. Mutations in the FUS/TLS gene on chromosome 16 cau... Science 323: 1205-1208, 2009 (PubMed ID: 19251627) |
|
|
FUS:
(Gly174_Gly175del; delGG)
(Gly175_Gly176ins; insGG)
(Arg244Cys)
(Arg514Ser,Gly515Cys)
(His517Gln)
(Arg518Lys)
(Arg521Gly)
(Arg521Cys)
(Arg521His)
(Arg522Gly)
(Arg524Thr)
(Arg524Ser)
(Pro525Leu)
|
|
ID: 628 | |
Kwok JB, Halliday GM, Brooks WS et al. Presenilin-1 mutation L271V results in altered exo... Journal of Biological Chemistry 278: 6748-6754, 2003 (PubMed ID: 12493737) |
|
|
PSEN1:
(Leu271Val)
|
|
ID: 150 | |
Kwok JB, Li QX, Hallupp M et al. Novel Leu723Pro amyloid precursor protein mutation... Annals of Neurology 47: 249-253, 2000 (PubMed ID: 10665499) |
|
|
APP:
(Leu723Pro; Australian APP)
|
|
ID: 77 | |
Kwok JB, Taddei K, Hallupp M et al. Two novel (M233T and R278T) presenilin-1 mutations... Neuroreport 8: 1537-1542, 1997 (PubMed ID: 9172170) |
|
|
PSEN1:
(Met233Thr)
(Pro264Leu)
(Arg278Thr)
(Glu280Ala)
(Δ9)
(Δ9)
|
|
ID: 25 | |
Kwok JBJ, Smith MJ, Brooks WS et al. Variable presentation of Alzheimer's disease and /... Neurobiology of Aging 21 Supp1: S25, 2000 |
|
|
PSEN1:
(Δ9)
(Δ9)
(Δ9)
|
|
ID: 99 | |
Kwok JBJ, Li Q-X, Hallupp M et al. Novel familial early-onset Alzheimer's disease mut... Neurobiology of Aging 19 Supp4: S91, 1998 |
|
|
APP:
(Leu723Pro; Australian APP)
|
|
ID: 53 | |
La Bella V, Liguori M, Cittadella R et al. A novel mutation (Thr116Ile) in the presenilin 1 g... European Journal of Neurology 11: 521-524, 2004 (PubMed ID: 15272895) |
|
|
PSEN1:
(Thr116Ile)
|
|
ID: 320 | |
Lanska DJ, Currier RD, Cohen M et al. Familial progressive subcortical gliosis. Neurology 44: 1633-1643, 1994 (PubMed ID: 7936288) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 280 | |
Lantos PL, Cairns NJ, Khan MN et al. Neuropathologic variation in frontotemporal dement... Neurology 58: 1169-1175, 2002 (PubMed ID: 11971082) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 281 | |
Lao JI, Beyer K, Fernandez-Novoa L et al. A novel mutation in the predicted TM2 domain of th... Neurogenetics 1: 293-296, 1998 (PubMed ID: 10732806) |
|
|
PSEN2:
(Val148Ile)
|
|
ID: 91 | |
Larner AJ. Intrafamilial clinical phenotypic heterogeneity wi... Journal of Neurological Sciences 287: 253-256, 2009 (PubMed ID: 19766248) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 656 | |
Larner AJ. Mutation negative "early-onset familial Alzheimer... Alzheimer Disease and Associated Disorders 22: 194-195, 2008 (PubMed ID: 18525295) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 562 | |
Larner AJ, Ray PS, Doran M. The R269H mutation in presenilin-1 presenting as l... Journal of the Neurological Sciences 252: 173-176, 2007 (PubMed ID: 17188713) |
|
|
PSEN1:
(Arg269His)
|
|
ID: 429 | |
Larner AJ, Ray PS, Doran M. Late-onset autosomal dominant Alzheimer's disease... Journal of Neurology 253 Suppl 2: ii37, 2006 (PubMed ID: 16710641) |
|
|
PSEN1:
(Arg269His)
|
|
ID: 409 | |
Larner AJ et al. Early-onset Alzheimer's disease with presenilin-1... European Journal of Neurology 10: 319-323, 2003 (PubMed ID: 12752408) |
|
|
PSEN1:
(Met139Val)
|
|
ID: 170 | |
Le Ber I, Camuzat A, Hannequin D et al. Phenotype variability in progranulin mutation carr... Brain 131: 732-746, 2008 (PubMed ID: 18245784) |
|
|
GRN:
(Met1)
(Trp7Arg)
(Arg110X)
(Asn118fs)
(Val121fs)
(Pro127fs)
(Gln130fs)
(Ala155fs)
(Cys157fs)
(Val200fs; IVS7+1G>A)
(Cys253X)
(Thr272fs)
(Cys314X)
(Cys366fs)
(Gln401X)
(Ala412fs)
(Glu498fs)
|
|
ID: 501 | |
Le Ber I, van der Zee J, Hannequin D et al. Progranulin null mutations in both sporadic and fa... Human Mutation 28: 846-855, 2007 (PubMed ID: 17436289) |
|
|
GRN:
(IVS1+3A>T)
(Asp33)
(Pro34)
(Val121fs)
(Gln130fs)
(Cys157fs)
(Val200fs; IVS7+1G>A)
(Pro248Leu)
(Ser258Asn)
(Cys314X)
(Cys366fs)
(Gln401X)
(Ala412fs)
(Arg418Gln)
(Arg432Cys)
(Cys565)
|
|
ID: 438 | |
Lee P, Medina L, Ringman JM. The Thr354Ile substitution in PSEN1:: disease-caus... Neurology 66: 1955-1956, 2006 (PubMed ID: 16801675) |
|
|
PSEN1:
(Thr354Ile)
(Ala431Glu)
|
|
ID: 389 | |
Lendon CL, Martinez A, Behrens IM et al. E280A PS-1 mutation causes Alzheimer's disease but... Human Mutation 10: 186-195, 1997 (PubMed ID: 9298817) |
|
|
PSEN1:
(Glu280Ala)
|
|
ID: 79 | |
Levchenko A, Robitaille Y, Strong MJ et al. TAU mutations are not a predominant cause of front... The Canadian Journal of Neurological Sciences 31: 363-367, 2004 (PubMed ID: 15376481) |
|
|
MAPT:
(Pro176)
(Ala227)
(Asn255)
(Pro270)
(IVS10+29G>A)
|
|
ID: 328 | |
Leverenz JB, Yu CE, Montine TJ et al. A novel progranulin mutation associated with varia... Brain 130: 1360-1374, 2007 (PubMed ID: 17439980) |
|
|
GRN:
(Ala237fs)
|
|
ID: 439 | |
Levy E, Carman MD, Fernandez-Madrid IJ et al. Mutation of the Alzheimer's disease amyloid gene i... Science 248: 1124-1126, 1990 (PubMed ID: 2111584) |
|
|
APP:
(Glu693Gln; Dutch APP)
|
|
ID: 136 | |
Levy-Lahad E, Wasco W, Poorkaj P et al. Candidate gene for the chromosome 1 familial Alzhe... Science 269: 973-977, 1995 (PubMed ID: 7638622) |
|
|
PSEN2:
(Asn141Ile)
|
|
ID: 35 | |
Li D, Parks SB, Kushner JD et al. Mutations of presenilin genes in dilated cardiomyo... American Journal of Human Genetics 79: 1030-1039, 2006 (PubMed ID: 17186461) |
|
|
PSEN1:
(Asp333Gly)
|
|
ID: 647 | |
Lindquist S, Schwartz M, Batbayli M et al. Genetic testing in familial AD and FTD: Mutation a... Clinical Genetics 76: 205-209, 2009 (PubMed ID: 19659892) |
|
|
APP:
(Thr714Ala, Iranian APP)
|
|
ID: 621 | |
Lindquist SG, Hasholt L, Bahl JM et al. A novel presenilin 2 mutation (V393M) in early-ons... European Journal of Neurology 15: 1135-1139, 2008 (PubMed ID: 18727676) |
|
|
PSEN2:
(Val393Met)
|
|
ID: 541 | |
Lindquist SG, Holm IE, Schwartz M et al. Alzheimer disease-like clinical phenotype in a fam... Alzheimer's & Dementia 4 Supp 2: T604, 2008 |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 551 | |
Lindquist SG, Braedgaard H, Svenstrup K et al. Frontotemporal dementia linked to chromosome 3 (FT... European Journal of Neurology 15: 667-670, 2008 (PubMed ID: 18484988) |
|
|
CHMP2B:
(Danish CHMP2B)
|
|
ID: 572 | |
Lindquist SG, Nielsen JE, Stokholm J et al. Atypical early-onset Alzheimer's disease caused by... Journal of the Neurological Sciences 268: 124-130, 2008 (PubMed ID: 18187157) |
|
|
APP:
(Thr714Ala, Iranian APP)
|
|
ID: 623 | |
Lindquist SG, Holm IE, Schwartz M et al. Alzheimer disease-like clinical phenotype in a fam... European Journal of Neurology 15: 377-385, 2008 (PubMed ID: 18284428) |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 510 | |
Lippa CF, Zhukareva V, Kawarai T et al. Frontotemporal dementia with novel tau pathology a... Annals of Neurology 48: 850-858, 2000 (PubMed ID: 11117541) |
|
|
MAPT:
(Glu342Val)
|
|
ID: 237 | |
Lladó A, Fortea J, Ojea T et al. A novel PSEN1 mutation (K239N) associated with Alz... European Journal of Neurology 17: 994-996, 2010 (PubMed ID: 20158511) |
|
|
PSEN1:
(Lys239Asn)
|
|
ID: 671 | |
Lladó A, Sánchez-Valle R, Rey MJ et al. New mutation in the PSEN1 (E120G) gene associated... Neurologia 25: 13-16, 2010 (PubMed ID: 20388456) |
|
|
PSEN1:
(Glu120Gly)
|
|
ID: 676 | |
Lladó A, Sánchez-Valle R, Rey MJ et al. Clinicopathological and genetic correlates of fron... Journal of Neurology 255: 488-494, 2008 (PubMed ID: 18357425) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 524 | |
Lladó A, Sanchez-Valle R, Rene R et al. Late-onset frontotemporal dementia associated with... Journal of Neural Transmission 114: 1051-1054, 2007 (PubMed ID: 17417739) |
|
|
GRN:
(Trp304fs)
|
|
ID: 440 | |
Lladó A, Ezquerra M, Sánchez-Valle R et al. A novel MAPT mutation (P301T) associated with fami... European Journal of Neurology 14: e9-e10, 2007 (PubMed ID: 17662000) |
|
|
MAPT:
(Pro301Thr)
|
|
ID: 464 | |
Lladó A, Ezquerra M, Rey MJ et al. Genetic and clinicopathological correlation of fro... Journal of Neurology 253 Suppl 2: ii40, 2006 (PubMed ID: 16710641) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 410 | |
Lleo A, Blesa R, Queralt R et al. Frequency of mutations in the presenilin and amylo... Archives of Neurology 59: 1759-1763, 2002 (PubMed ID: 12433263) |
|
|
PSEN1:
(Val89Leu)
(Met139Thr)
(His163Arg)
(Leu166Arg)
(Ser169Pro)
|
|
ID: 152 | |
Lleo A, Castellvi M, Blesa R et al. Uncommon polymorphism in the presenilin genes in h... Neuroscience Letters 318: 166-168, 2002 (PubMed ID: 11803125) |
|
|
PSEN2:
(Pro334Arg)
|
|
ID: 151 | |
Lleo A, Blesa R, Gendre J et al. A novel presenilin 2 gene mutation (D439A) in a pa... Neurology 57: 1926-1928, 2001 (PubMed ID: 11723295) |
|
|
PSEN2:
(Asp439Ala)
|
|
ID: 118 | |
López de Munain A, Alzualde A, Gorostidi A et al. Mutations in Progranulin Gene: Clinical, Pathologi... Biological Psychiatry 63: 946-952, 2008 (PubMed ID: 17950702) |
|
|
GRN:
(Val5Leu)
(Arg177His)
(Ala237fs)
(Pro357fs)
|
|
ID: 500 | |
Lossos A, Reches A, Gal A et al. Frontotemporal dementia and parkinsonism with the... Journal of Neurology 250: 733-740, 2003 (PubMed ID: 12796837) |
|
|
MAPT:
(Pro301Ser)
|
|
ID: 221 | |
Luquin N, Yu B, Saunderson RB et al. Genetic variants in the promoter of TARDBP in spor... Neuromuscular Disorders 19: 696-700, 2009 (PubMed ID: 19695877) |
|
|
TARDBP:
(Asn12)
(Ala66)
(Gly294Ala)
|
|
ID: 617 | |
Lynch T, Sano M, Marder KS et al. Clinical characteristics of a family with chromoso... Neurology 44: 1878-1884, 1994 (PubMed ID: 7936241) |
|
|
MAPT:
(IVS10+14C>T)
|
|
ID: 272 | |
Malkani R, D'Souza I, Gwinn-Hardy K et al. A MAPT mutation in a regulatory element upstream o... Neurobiology of Disease 22: 401-403, 2006 (PubMed ID: 16503405) |
|
|
MAPT:
(IVS9-10G>T;g(-10)t)
|
|
ID: 436 | |
Marcon G, Di Fede G, Giaccone G et al. A novel Italian presenilin 2 gene mutation with pr... Journal of Alzheimer's Disease 16: 509-511, 2009 (PubMed ID: 19276543) |
|
|
PSEN2:
(Tyr231Cys)
|
|
ID: 584 | |
Marcon G, Giaccone g, DiFede G et al. A novel missense mutation in Psen2 gene associated... Alzheimer's & Dementia 4 Supp 2: T590, 2008 |
|
|
PSEN2:
(Tyr231Cys)
|
|
ID: 555 | |
Marcon G, Giaccone G, Cupidi C et al. Neuropathological and clinical phenotype of an Ita... Journal of Neuropathology and Experimental Neurology 63: 199-209, 2004 (PubMed ID: 15055444) |
|
|
PSEN2:
(Met239Val)
|
|
ID: 345 | |
Marrosu MG, Floris G, Costa G et al. Dementia, pyramidal system involvement, and leukoe... Neurology 66: 108-111, 2006 (PubMed ID: 16401857) |
|
|
PSEN1:
(Pro284Ser)
|
|
ID: 425 | |
Martikainen P, Pikkarainen M, Pöntynen K et al. Brain pathology in three subjects from the same pe... Neuropathology and Applied Neurobiology 36: 41-54, 2010 (PubMed ID: 19849793) |
|
|
PSEN1:
(Pro264Leu)
|
|
ID: 666 | |
Masellis M, Momeni P, Meschino W et al. Novel splicing mutation in the progranulin gene ca... Brain 129: 3115-3123, 2006 (PubMed ID: 17030534) |
|
|
GRN:
(Val200fs; IVS7+1G>A)
|
|
ID: 417 | |
Matsubara-Tsutsui M, Yasuda M, Yamagata H et al. Molecular evidence of presenilin 1 mutation in fam... American Journal of Medical Genetics 114: 292-298, 2002 (PubMed ID: 11920851) |
|
|
PSEN1:
(Gly266Ser)
|
|
ID: 560 | |
Matsumura Y, Kitamura E, Miyoshi K et al. Japanese siblings with missense mutation (717Val->... Neurology 46: 1721-1723, 1996 (PubMed ID: 8649577) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 47 | |
Matsushita S, Arai H, Okamura N et al. Clinical and biomarker investigation of a patient... Biological Psychiatry 52: 907-910, 2002 (PubMed ID: 12399144) |
|
|
PSEN1:
(Ala431Val)
|
|
ID: 145 | |
Mattila KM, Forsell C, Pirttila T et al. The Glu318Gly mutation of the presenilin-1 gene do... Annals of Neurology 44: 965-967, 1998 (PubMed ID: 9851443) |
|
|
PSEN1:
(Glu318Gly)
|
|
ID: 162 | |
McRae CA, Diem G, Yamazaki TG et al. Interest in genetic testing in pallido-ponto-nigra... European Journal of Neurology 8: 179-183, 2001 (PubMed ID: 11284997) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 210 | |
Mehrabian S, Traykov LT, Jordanova A et al. Novel PSEN1 gene mutation in a large Bulgarian ped... European Journal of Neurology 13 Supp 2: 41, 2006 |
|
|
PSEN1:
(Leu424Phe)
|
|
ID: 558 | |
Mehrabian S, Traykov LD, Jordanova AK et al. Myoclonus as an atypical phenotype in familial ear... Epilepsia 46 Supp 6: 283, 2005 |
|
|
PSEN1:
(Leu250Val)
|
|
ID: 375 | |
Mehrabian S, Traykov L, Rademakers R et al. A novel PSEN1 mutation in an EOAD family with spas... European Journal of Neurology 11 Supp 2: 16, 2004 |
|
|
PSEN1:
(Leu381Val)
|
|
ID: 374 | |
Mendez MF et al. Frontotemporal dementia-like phenotypes associated... American Journal of Alzheimer's Disease & Other Dementias 21: 281-286, 2006 (PubMed ID: 16948293) |
|
|
PSEN1:
(Met233Leu)
|
|
ID: 450 | |
Mesulam M, Johnson N, Krefft TA et al. Progranulin mutations in primary progressive aphas... Archives of Neurology 64: 43-47, 2007 (PubMed ID: 17210807) |
|
|
GRN:
(Gly333fs)
(Arg493X)
|
|
ID: 423 | |
Miklossy J, Taddei K, Suva D et al. Two novel presenilin-1 mutations (Y256S and Q222H)... Neurobiology of Aging 24: 655-662, 2003 (PubMed ID: 12885573) |
|
|
PSEN1:
(Gln222His)
(Tyr256Ser)
|
|
ID: 172 | |
Miravalle L, Murrell JR, Takao M et al. Genetic mutations associated with presenile dement... Neurobiology of Aging 23 (1S): S322, 2002 |
|
|
PSEN1:
(Ala79Val)
(Ile143Thr)
(Leu166Pro)
(Ser169Leu)
(Gly217Asp)
(Val261Phe)
(Pro264Leu)
(Ala431Glu)
|
|
ID: 125 | |
Mirra SS, Murrell JR, Gearing M et al. Tau pathology in a family with dementia and a P301... Journal of Neuropathology and Experimental Neurology 58: 335-345, 1999 (PubMed ID: 10218629) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 257 | |
Miyamoto K, Kowalska A, Hasegawa M et al. Familial frontotemporal dementia and parkinsonism... Annals of Neurology 50: 117-120, 2001 (PubMed ID: 11456301) |
|
|
MAPT:
(Pro301)
(IVS10+11T>C)
|
|
ID: 269 | |
Miyasaka T, Morishima-Kawashima M, Ravid R et al. Molecular analysis of mutant and wild-type tau dep... American Journal of Pathology 158: 373-379, 2001 (PubMed ID: 11159174) |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 243 | |
Moehlmann T, Winkler E, Xia X et al. Presenilin-1 mutations of leucine 166 equally affe... Proceedings of the National Academy of Sciences USA 99: 8025-8030, 2002 (PubMed ID: 12048239) |
|
|
PSEN1:
(Leu166Pro)
|
|
ID: 140 | |
Momeni P, Pittman A, Lashley T et al. Clinical and pathological features of an Alzheimer... Neurobiology of Aging 30: 388-393, 2009 (PubMed ID: 17723255) |
|
|
MAPT:
(ΔK280;ΔK281)
|
|
ID: 460 | |
Momeni P, Rogaeva E, Van Deerlin V et al. Genetic variability in CHMP2B and frontotemporal d... Neurodegenerative Diseases 3: 129-133, 2006 (PubMed ID: 16954699) |
|
|
CHMP2B:
(Thr9)
(Thr104)
(Thr124)
(Arg186X;Afrikaner CHMP2B)
|
|
ID: 467 | |
Morelli L, Prat MI, Levy E et al. Presenilin 1 Met146Leu variant due to an A --> T t... Clinical Genetics 53: 469-473, 1998 (PubMed ID: 9712537) |
|
|
PSEN1:
(Met146Leu)
|
|
ID: 75 | |
Moreno F, Indakoetxea B, Barandiaran M et al. "Frontotemporoparietal" dementia: clinical phenoty... Neurology 73: 1367-1374, 2009 (PubMed ID: 19858458) |
|
|
GRN:
(Ala237fs)
|
|
ID: 637 | |
Moretti P, Lieberman AP, Wilde EA et al. Novel insertional presenilin 1 mutation causing Al... Neurology 62: 1865-1868, 2004 (PubMed ID: 15159497) |
|
|
PSEN1:
(InsFI)
|
|
ID: 318 | |
Morris HR, Osaki Y, Holton J et al. Tau exon 10 +16 mutation FTDP-17 presenting clinic... Neurology 61: 102-104, 2003 (PubMed ID: 12847166) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 282 | |
Morris HR, Khan MN, Janssen JC et al. The genetic and pathological classification of fam... Archives of Neurology 58: 1813-1816, 2001 (PubMed ID: 11708988) |
|
|
MAPT:
(Pro301Ser)
(IVS10+14C>T)
(IVS10+16C>T)
|
|
ID: 222 | |
Mukherjee O, Wang J, Gitcho M et al. Molecular characterization of novel progranulin (G... Human Mutation 29: 512-521, 2008 (PubMed ID: 18183624) |
|
|
GRN:
(Ala9Asp)
(Asp33)
(Ala237fs)
(Arg433Gln)
|
|
ID: 502 | |
Mukherjee O, Pastor P, Cairns NJ et al. HDDD2 is a familial frontotemporal lobar degenerat... Annals of Neurology 60: 314-322, 2006 (PubMed ID: 16983685) |
|
|
GRN:
(Ala9Asp)
|
|
ID: 413 | |
Mullan M, Crawford F, Axelman K et al. A pathogenic mutation for probable Alzheimer's dis... Nature Genetics 1: 345-347, 1992 (PubMed ID: 1302033) |
|
|
APP:
(APPKM670/671NL; Swedish APP)
|
|
ID: 37 | |
Munoz DG, Ros R, Fatas M et al. Progressive Nonfluent Aphasia Associated With a Ne... American Journal of Alzheimer's Disease & Other Dementias 22: 294-299, 2007 (PubMed ID: 17712160) |
|
|
MAPT:
(Val363Ile)
|
|
ID: 461 | |
Murrell J, Ghetti B, Cochran E et al. The A431E mutation in PSEN1 causing Familial Alzhe... Neurogenetics 7: 277-279, 2006 (PubMed ID: 16897084) |
|
|
PSEN1:
(Ala431Glu)
|
|
ID: 384 | |
Murrell J, Farlow M, Ghetti B et al. A mutation in the amyloid precursor protein associ... Science 254: 97-99, 1991 (PubMed ID: 1925564) |
|
|
APP:
(Val717Phe)
|
|
ID: 52 | |
Murrell JR, Hake AM, Quaid KA et al. Early-onset Alzheimer disease caused by a new muta... Archives of Neurology 57: 885-887, 2000 (PubMed ID: 10867787) |
|
|
APP:
(Val717Leu)
|
|
ID: 87 | |
Murrell JR, Spillantini MG, Zolo P et al. Tau gene mutation G389R causes a tauopathy with ab... Journal of Neuropathology and Experimental Neurology 58: 1207-1226, 1999 (PubMed ID: 10604746) |
|
|
MAPT:
(Gly389Arg)
|
|
ID: 242 | |
Murrell JR, Koller D, Foroud T et al. Familial multiple-system tauopathy with presenile... American Journal of Human Genetics 61: 1131-1138, 1997 (PubMed ID: 9345089) |
|
|
MAPT:
(IVS10+3G>A)
|
|
ID: 264 | |
Naruse S, Igarashi S, Kobayashi H et al. Mis-sense mutation Val -> Ile in exon 17 of amyloi... The Lancet 337: 978-979, 1991 (PubMed ID: 1678058) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 42 | |
Nasreddine ZS, Loginov M, Clark LN et al. From genotype to phenotype: a clinical pathologica... Annals of Neurology 45: 704-715, 1999 (PubMed ID: 10360762) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 258 | |
Neumann M, Mittelbronn M, Simon P et al. A New family with frontotemporal dementia with int... Neuropathology and Applied Neurobiology 31: 362-373, 2005 (PubMed ID: 16008820) |
|
|
MAPT:
(IVS10+3G>A)
|
|
ID: 358 | |
Neumann M, Diekmann S, Bertsch U et al. Novel G335V mutation in the tau gene associated wi... Neurogenetics 6: 91-95, 2005 (PubMed ID: 15765246) |
|
|
MAPT:
(Gly335Val)
|
|
ID: 360 | |
Neumann M, Schulz-Schaeffer W, Crowther RA et al. Pick's disease associated with the novel Tau gene... Annals of Neurology 50: 503-513, 2001 (PubMed ID: 11601501) |
|
|
MAPT:
(Lys369Ile)
|
|
ID: 240 | |
Nicholl DJ, Greenstone MA, Clarke CE et al. An English kindred with a novel recessive tauopath... Annals of Neurology 54: 682-686, 2003 (PubMed ID: 14595660) |
|
|
MAPT:
(Ser352Leu)
|
|
ID: 239 | |
Nilsberth C, Westlind-Danielsson A, Eckman CB et al. The 'Arctic' APP mutation (E693G) causes Alzheimer... Nature Neuroscience 4: 887-893, 2001 (PubMed ID: 11528419) |
|
|
APP:
(Glu693Gly; Arctic APP)
|
|
ID: 113 | |
Nilsberth C, Westlind-Danielsson A, Eckman CB et al. The Arctic APP mutation (E693G) causes Alzheimer's... Neurobiology of Aging 21 Supp1: S58, 2000 |
|
|
APP:
(Glu693Gly; Arctic APP)
|
|
ID: 97 | |
Norton JB, Cairns NJ, Chakraverty S et al. Presenilin1 G217R mutation linked to Alzheimer dis... Neurology 73: 480-482, 2009 (PubMed ID: 19667325) |
|
|
PSEN1:
(Gly217Arg)
|
|
ID: 650 | |
Nuytemans K, Pals P, Sleegers K et al. Progranulin variability has no major role in Parki... Neurology 71: 1147-1151, 2008 (PubMed ID: 18838661) |
|
|
GRN:
(Asp33Glu)
(Ala324Thr)
(Arg433Trp)
(Val514Met)
|
|
ID: 559 | |
Obici L, Demarchi A, de Rosa G et al. A novel AβPP mutation exclusively associated... Annals of Neurology 58: 639-644, 2005 |
|
|
APP:
(Leu705Val)
|
|
ID: 365 | |
Oliva R et al. Tau gene delN296 mutation, Parkinson's disease, an... Annals of Neurology 55: 448-449, 2004 (PubMed ID: 14991828) |
|
|
MAPT:
(ΔN296)
|
|
ID: 351 | |
O'Riordan S, McMonagle P, Janssen JC et al. Presenilin-1 mutation (E280G), spastic paraparesis... Neurology 59: 1108-1110, 2002 (PubMed ID: 12370477) |
|
|
PSEN1:
(Glu280Gly)
|
|
ID: 146 | |
Orrù S, Manolakos E, Orrù N et al. High frequency of the TARDBP p.Ala382Thr mutation... Clinical Genetics 81: 172-178, 2012 (PubMed ID: 21418058) |
|
|
TARDBP:
(Ala382Thr)
|
|
ID: 688 | |
Ostojic J, Elfgren C, Passant U et al. The tau R406W mutation causes progressive presenil... Dementia and Geriatric Cognitive Disorders 17: 298-301, 2004 (PubMed ID: 15178940) |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 323 | |
Palmer MS, Beck JA, Campbell TA et al. Pathogenic presenilin 1 mutations (P436S & I143F)... Human Mutation 13: 256, 1999 (PubMed ID: 10090481) |
|
|
PSEN1:
(Met139Val)
(Ile143Phe)
(Pro267Ser)
(Pro436Ser)
|
|
ID: 86 | |
Pamphlett R, Luquin N, McLean C et al. TDP-43 neuropathology is similar in sporadic amyot... Neuropathology and Applied Neurobiology 35: 222-225, 2009 (PubMed ID: 18986339) |
|
|
TARDBP:
(Gly294Ala)
|
|
ID: 618 | |
Pantieri R, Pardini M, Cecconi M et al. A novel presenilin 1 L166H mutation in a pseudo-sp... Neurological Sciences 26: 349-350, 2005 (PubMed ID: 16388371) |
|
|
PSEN1:
(Leu166His)
|
|
ID: 368 | |
Park HK, Na DL, Lee JH et al. Identification of PSEN1 and APP gene mutations in... Journal of Korean Medical Science 23: 213-217, 2008 (PubMed ID: 18437002) |
|
|
APP:
(Val715Met; French APP)
|
|
ID: 527 | |
Parkinson N, Ince PG, Smith MO et al. ALS phenotypes with mutations in CHMP2B (charged m... Neurology 67: 1074-1077, 2006 (PubMed ID: 16807408) |
|
|
CHMP2B:
(Ile29Val)
(Gln206His)
|
|
ID: 469 | |
Pasalar P, Najmabadi H, Noorian AR et al. An Iranian family with Alzheimer's disease caused... Neurology 58: 1574-1575, 2002 (PubMed ID: 12034808) |
|
|
APP:
(Thr714Ala, Iranian APP)
|
|
ID: 123 | |
Passant U, Ostojic J, Froehlich Fabre S et al. Familial presenile dementia with bitemporal atroph... Dementia and Geriatric Cognitive Disorders 17: 287-292, 2004 (PubMed ID: 15178938) |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 307 | |
Pastor P, Pastor E, Carnero C et al. Familial atypical progressive supranuclear palsy a... Annals of Neurology 49: 263-267, 2001 (PubMed ID: 11220749) |
|
|
MAPT:
(ΔN296)
|
|
ID: 216 | |
Peacock ML, Murman DL, Sima AA et al. Novel amyloid precursor protein gene mutation (cod... Annals of Neurology 35: 432-438, 1994 (PubMed ID: 8154870) |
|
|
APP:
(Glu665Asp)
|
|
ID: 157 | |
Peacock ML, Warren JT Jr, Roses AD et al. Novel polymorphism in the A4 region of the amyloid... Neurology 43: 1254-1256, 1993 (PubMed ID: 8170579) |
|
|
APP:
(Ala673Thr)
|
|
ID: 154 | |
Peacock ML, Warren JT Jr, Murman DL et al. Novel mutation in codon 665 (Glu -> Asp) in the am... Neurology 43 Supp: A317, 1993 |
|
|
APP:
(Glu665Asp)
|
|
ID: 158 | |
Perez-Tur J, Croxton R, Wright K et al. A further presenilin 1 mutation in the exon 8 clus... Neurodegeneration 5: 207-212, 1996 (PubMed ID: 8910898) |
|
|
PSEN1:
(Arg269Gly)
|
|
ID: 30 | |
Perez-Tur J, Froelich S, Prihar G et al. A mutation in Alzheimer's disease destroying a spl... Neuroreport 7: 297-301, 1995 (PubMed ID: 8742474) |
|
|
PSEN1:
(Δ9)
|
|
ID: 54 | |
Petersen RB, Tabaton M, Chen SG et al. Familial progressive subcortical gliosis: presence... Neurology 45: 1062-1067, 1995 (PubMed ID: 7783864) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 283 | |
Piccini A, Zanusso G, Borghi R et al. Association of a presenilin 1 S170F mutation with... Archives of Neurology 64: 738-745, 2007 (PubMed ID: 17502474) |
|
|
PSEN1:
(Ser170Phe)
|
|
ID: 447 | |
Pickering-Brown S, Baker M, Yen SH et al. Pick's disease is associated with mutations in the... Annals of Neurology 48: 859-867, 2000 (PubMed ID: 11117542) |
|
|
MAPT:
(Lys257Thr)
(Gly389Arg)
|
|
ID: 180 | |
Pickering-Brown SM, Rollinson S, Plessis DD et al. Frequency and clinical characteristics of progranu... Brain 131: 721-731, 2008 (PubMed ID: 18192287) |
|
|
GRN:
(Gly168Ser)
(Ala324Thr)
(Gln415X)
|
|
ID: 497 | |
Pickering-Brown SM, Baker M, Gass J et al. Mutations in progranulin explain atypical phenotyp... Brain 129: 3124-3216, 2006 (PubMed ID: 17071927) |
|
|
GRN:
(IVS2+1G>A)
(IVS11-15_EX12+177del; Δ12)
(Arg493X)
|
|
ID: 419 | |
Pickering-Brown SM, Baker M, Nonaka T et al. Frontotemporal dementia with Pick-type histology a... Brain 127: 1415-1426, 2004 (PubMed ID: 15047590) |
|
|
MAPT:
(Gln336Arg)
|
|
ID: 315 | |
Pickering-Brown SM, Richardson AM, Snowden JS et al. Inherited frontotemporal dementia in nine British... Brain 125: 732-751, 2002 (PubMed ID: 11912108) |
|
|
MAPT:
(Ala239Thr)
(IVS10+13A>G)
(IVS10+16C>T)
|
|
ID: 284 | |
Pietroboni AM, Fumagalli GG, Ghezzi L et al. Phenotypic heterogeneity of the GRN Asp22fs mutati... Journal of Alzheimer's Disease 24: 253-259, 2011 (PubMed ID: 21258152) |
|
|
GRN:
(Asp22fs)
|
|
ID: 691 | |
Piscopo P, Talarico G, Crestini A et al. A novel mutation in the predicted TMIII domain of... Journal of Alzheimer's Disease 20: 43-47, 2010 (PubMed ID: 20164579) |
|
|
PSEN2:
(Ser175Cys)
|
|
ID: 686 | |
Piscopo P. . Personal Communication : , 2008 |
|
|
PSEN2:
(Ser175Cys)
|
|
ID: 563 | |
Piscopo P, Talarico G, Spadoni O et al. A novel Italian presenilin 2 mutation (S175Y). Alzheimer's & Dementia 4 Supp 2: T595, 2008 |
|
|
PSEN2:
(Ser175Cys)
|
|
ID: 554 | |
Piscopo P, Marcon G, Piras MR et al. A novel PSEN2 mutation associated with a peculiar... Neurology 70: 1549-1554, 2008 (PubMed ID: 18427071) |
|
|
PSEN2:
(Ala85Val)
|
|
ID: 516 | |
Piscopo P, Crestini A, Malvezzi-Campeggi L et al. A novel PSEN-2 mutation in a large Italian pedigre... Alzheimer's and Parkinson's Diseases: Insights, Progress and Perspectives. 7th International Conference AD/PD 2005 Book of Abstracts : 24, 2005 |
|
|
PSEN2:
(Ala85Val)
|
|
ID: 458 | |
Poduslo SE, Herring K, Neal M. A presenilin 1 mutation in an early onset Alzheime... Neuroreport 7: 2018-2020, 1996 (PubMed ID: 8905716) |
|
|
PSEN1:
(His163Arg)
|
|
ID: 23 | |
Poorkaj P, Muma NA, Zhukareva V et al. An R5L tau mutation in a subject with a progressiv... Annals of Neurology 52: 511-516, 2002 (PubMed ID: 12325083) |
|
|
MAPT:
(Arg5Leu)
|
|
ID: 178 | |
Poorkaj P, Grossman M, Steinbart E et al. Frequency of tau gene mutations in familial and sp... Archives of Neurology 58: 383-387, 2001 (PubMed ID: 11255441) |
|
|
MAPT:
(Pro176)
(Ala227)
(Asn255)
(Pro270)
(Leu284)
(Pro301Leu)
(Ser305Asn)
(IVS10+16C>T)
|
|
ID: 259 | |
Poorkaj P, Bird TD, Wijsman E et al. Tau is a candidate gene for chromosome 17 frontote... Annals of Neurology 43: 815-825, 1998 (PubMed ID: 9629852) |
|
|
MAPT:
(Asp285Asn)
(Asp285)
(Val289Ala)
(EX6 His47Tyr)
(EX6 Ser53Pro)
(Asn255)
(Val337Met)
|
|
ID: 234 | |
Poorkaj P, Sharma V, Anderson L et al. Missense mutations in the chromosome 14 familial A... Human Mutation 11: 216-221, 1998 (PubMed ID: 9521423) |
|
|
PSEN1:
(Glu120Asp)
(His163Arg)
(Gly209Val)
(Ala260Val)
(Pro264Leu)
(Cys410Tyr)
(Ala426Pro)
|
|
ID: 8 | |
Portet F, Dauvilliers Y, Campion D et al. Very early onset AD with a de novo mutation in the... Neurology 61: 1136-1137, 2003 (PubMed ID: 14581682) |
|
|
PSEN1:
(Met233Ile)
|
|
ID: 426 | |
Prihar G, Verkkoniem A, Perez-Tur J et al. Alzheimer disease PS-1 exon 9 deletion defined. Nature Medicine 5: 1090, 1999 (PubMed ID: 10502791) |
|
|
PSEN1:
(Δ9Finn)
|
|
ID: 65 | |
Puschmann A, Ross OA, Vilariño-Güell C et al. A Swedish family with de novo alpha-synuclein A53T... Parkinsonism and Related Disorders 15: 627-632, 2009 (PubMed ID: 19632874) |
|
|
PSEN2:
(Arg163His)
|
|
ID: 627 | |
Queralt R, Ezquerra M, Lleo A et al. A novel mutation (V89L) in the presenilin 1 gene i... Journal of Neurology, Neurosurgery and Psychiatry 72: 266-269, 2002 (PubMed ID: 11796781) |
|
|
PSEN1:
(Val89Leu)
|
|
ID: 143 | |
Queralt R, Ezquerra M, Castellvi M et al. Detection of the presenilin 1 gene mutation (M139T... Neuroscience Letters 299: 239-241, 2001 (PubMed ID: 11165779) |
|
|
PSEN1:
(Met139Thr)
|
|
ID: 109 | |
Rademakers R, Baker M, Gass J et al. Phenotypic variability associated with progranulin... The Lancet Neurology 6: 857-868, 2007 (PubMed ID: 17826340) |
|
|
GRN:
(Arg493X)
|
|
ID: 474 | |
Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia... Human Mutation 24: 277-295, 2004 (PubMed ID: 15365985) |
|
|
MAPT:
(Gln230Arg)
(Asp285)
|
|
ID: 314 | |
Rademakers R, Dermaut B, Peeters K et al. Tau (MAPT) mutation Arg406Trp presenting clinicall... Human Mutation 22: 409-411, 2003 (PubMed ID: 14517953) |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 244 | |
Raman A, Lin X, Suri M et al. A presenilin 1 mutation (Arg278Ser) associated wit... Journal of the Neurological Sciences 260: 78-82, 2007 (PubMed ID: 17507029) |
|
|
PSEN1:
(Arg278Ser)
|
|
ID: 444 | |
Ramirez-Duenas MG, Rogaeva EA, Leal CA et al. A novel Leu171Pro mutation in presenilin-1 gene in... Annals of Genetics 41: 149-153, 1998 (PubMed ID: 9833068) |
|
|
PSEN1:
(Leu171Pro)
|
|
ID: 59 | |
Raux G, Guyant-Marechal L, Martin C et al. Molecular diagnosis of autosomal dominant early on... Journal of Medical Genetics 42: 793-795, 2005 (PubMed ID: 16033913) |
|
|
APP:
(Thr714Ile, Austrian APP)
(Val717Ile; London APP)
|
|
ID: 376 | |
Raux G, Gantier R, Thomas-Anterion C et al. Dementia with prominent frontotemporal features as... Neurology 55: 1577-1579, 2000 (PubMed ID: 11094121) |
|
|
PSEN1:
(Leu113Pro)
|
|
ID: 104 | |
Raux G, Gantier R, Martin C et al. A novel presenilin 1 missense mutation (L153V) seg... Human Mutation 16: 95, 2000 (PubMed ID: 10874324) |
|
|
PSEN1:
(Leu153Val)
|
|
ID: 88 | |
Reed LA, Schmidt ML, Wszolek ZK et al. The neuropathology of a chromosome 17-linked autos... Journal of Neuropathology and Experimental Neurology 57: 588-601, 1998 (PubMed ID: 9630238) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 198 | |
Reed LA, Grabowski TJ, Schmidt ML et al. Autosomal dominant dementia with widespread neurof... Annals of Neurology 42: 564-572, 1997 |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 245 | |
Renton AE, Majounie E, Waite A et al. A hexanucleotide repeat expansion in C9ORF72 is t... Neuron 72: 257-268, 2011 (PubMed ID: 21944779) |
|
|
C9orf72:
(G4C2 hexanucleotide repeat expansion)
|
|
ID: 696 | |
Reznik-Wolf H, Machado J, Haroutunlan V et al. Somatic mutational analyses of the APP and Preseni... Neurobiology of Aging 17 Supp: S14, 1996 |
|
|
PSEN1:
(Glu120Asp)
(His163Arg)
|
|
ID: 21 | |
Reznik-Wolf H, Treves TA, Davidson M et al. A novel mutation of presenilin 1 in familial Alzhe... Human Genetics 98: 700-702, 1996 (PubMed ID: 8931704) |
|
|
PSEN1:
(Glu120Asp)
|
|
ID: 7 | |
Ringman JM, Gylys KH, Medina LD et al. Biochemical, neuropathological, and neuroimaging c... Neuroscience Letters 487: 287-292, 2011 (PubMed ID: 21094210) |
|
|
PSEN1:
(Ser212Tyr)
(Ile238Met)
|
|
ID: 690 | |
Rippon GA, Crook R, Baker M et al. Presenilin 1 mutation in an african american famil... Archives of Neurology 60: 884-888, 2003 (PubMed ID: 12810495) |
|
|
PSEN1:
(Met139Val)
|
|
ID: 173 | |
Rizzini C, Goedert M, Hodges JR et al. Tau gene mutation K257T causes a tauopathy similar... Journal of Neuropathology and Experimental Neurology 59: 990-1001, 2000 (PubMed ID: 11089577) |
|
|
MAPT:
(Lys257Thr)
|
|
ID: 179 | |
Rizzu P, Joosse M, Ravid R et al. Mutation-dependent aggregation of tau protein and... Human Molecular Genetics 9: 3075-3082, 2000 (PubMed ID: 11115852) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 260 | |
Rizzu P, van Swieten JC, Joosse M et al. High prevalence of mutations in the microtubule-as... American Journal of Human Genetics 64: 414-421, 1999 (PubMed ID: 9973279) |
|
|
MAPT:
(Pro176)
(Ala227)
(Asn255)
(Pro270)
(Gly272Val)
(ΔK280;ΔK281)
(Pro301Leu)
(Arg406Trp)
|
|
ID: 188 | |
Robles A, Sobrido MJ, Garcia-Murias M et al. Clinical Picture of a Patient With a Novel PSEN1 M... American Journal of Alzheimer's Disease & Other Dementias 24: 40-45, 2009 (PubMed ID: 19001354) |
|
|
PSEN1:
(Leu424Val)
|
|
ID: 568 | |
Rogaev EI, Sherrington R, Rogaeva EA et al. Familial Alzheimer's disease in kindreds with miss... Nature 376: 775-778, 1995 (PubMed ID: 7651536) |
|
|
PSEN1:
(Ala260Val)
(Ala285Val)
(Leu392Val)
|
|
ID: 27 | |
Rogaeva E, Bergeron C, Sato C et al. PS1 Alzheimer's disease family with spastic parapl... Neurology 61: 1005-1007, 2003 (PubMed ID: 14557582) |
|
|
PSEN1:
(Glu280Gly)
|
|
ID: 427 | |
Rogaeva EA, Fafel KC, Song YQ et al. Screening for PS1 mutations in a referral-based se... Neurology 57: 621-625, 2001 (PubMed ID: 11524469) |
|
|
PSEN1:
(Arg35Gln)
(Ala79Val)
(Intron4; InsTAC)
(Tyr115Cys)
(Thr116Asn)
(Ile143Thr)
(Met146Leu)
(Met146Val)
(Met146Leu)
(Met146Ile)
(InsFI)
(His163Arg)
(Phe177Leu)
(Phe177Ser)
(Ser178Pro)
(Gly206Ser)
(Gly206Ala)
(Gly209Glu)
(Ile213Leu)
(Gln222Arg)
(Ala231Thr)
(Met233Leu)
(Leu235Pro)
(Val261Phe)
(Thr274Arg)
(Δ9)
(InsR352)
(Thr354Ile)
(Arg358Gln)
(Ser365Tyr)
(Gly394Val)
(Leu418Phe)
(Ala431Glu)
(Ala434Cys)
(Leu435Phe)
(Ile439Val)
|
|
ID: 112 | |
Rohrer JD, Ridgway GR, Modat M et al. Distinct profiles of brain atrophy in frontotempor... Neuroimage 53: 1070-1076, 2010 (PubMed ID: 20045477) |
|
|
GRN:
(Cys31fs)
(Gln130fs)
(Ala199Val)
(Ser203fs)
(Glu498fs)
|
|
ID: 682 | |
Rohrer JD, Crutch SJ, Warrington EK et al. Progranulin-associated primary progressive aphasia... Neuropsychologia 48: 288-297, 2010 (PubMed ID: 19766663) |
|
|
GRN:
(Arg493X)
|
|
ID: 654 | |
Rohrer JD, Guerreiro R, Vandrovcova J et al. The heritability and genetics of frontotemporal lo... Neurology 73: 1451-1456, 2009 (PubMed ID: 19884572) |
|
|
GRN:
(Cys31fs)
(Gln300X)
(Leu469Phe)
|
|
ID: 668 | |
Rohrer JD, Warren JD, Omar R et al. Parietal lobe deficits in frontotemporal lobar deg... Archives of Neurology 65: 506-513, 2008 (PubMed ID: 18413474) |
|
|
GRN:
(Cys31fs)
|
|
ID: 515 | |
Pernaute RS, Fontan A, Ruiz PG et al. Clinical genetics of familial progressive supranuc... Brain 122: 1233-1245, 1999 (PubMed ID: 10388790) |
|
|
MAPT:
(Gly303Val)
|
|
ID: 361 | |
Roks G, Van Harskamp F, De Koning I et al. Presentation of amyloidosis in carriers of the cod... Brain 123: 2130-2140, 2000 (PubMed ID: 11004129) |
|
|
APP:
(Ala692Gly; Flemish APP)
|
|
ID: 117 | |
Roks G, Dermaut B, Heutink P et al. Mutation screening of the tau gene in patients wit... Neuroscience Letters 277: 137-139, 1999 (PubMed ID: 10624829) |
|
|
MAPT:
(Ala227)
(Asn255)
(IVS10+25C>T)
(IVS10+29G>A)
|
|
ID: 298 | |
Romero I, Jorgensen P, Bolwig G et al. A presenilin-1 Thr116Asn substitution in a family... Neuroreport 10: 2255-2260, 1999 (PubMed ID: 10439444) |
|
|
PSEN1:
(Thr116Asn)
|
|
ID: 94 | |
Thobois S, Streichenberger N, Kopp N et al. A New Mutation of the {tau} Gene, G303V, in Early-... Archives of Neurology 62: 1444-1450, 2005 (PubMed ID: 16157753) |
|
|
MAPT:
(Gly303Val)
|
|
ID: 362 | |
Rossi G, Marelli C, Farina L et al. The G389R mutation in the MAPT gene presenting as... Movement Disorders 23: 892-895, 2008 (PubMed ID: 18307268) |
|
|
MAPT:
(Gly389Arg)
|
|
ID: 509 | |
Rossi G, Giaccone G, Maletta R et al. A family with Alzheimer disease and strokes associ... Neurology 63: 910-912, 2004 (PubMed ID: 15365148) |
|
|
APP:
(Ala713Thr)
|
|
ID: 342 | |
Rossi G, Gasparoli E, Pasquali C et al. Progressive supranuclear palsy and Parkinson's dis... Annals of Neurology 55: 448-448, 2004 (PubMed ID: 14991829) |
|
|
MAPT:
(ΔN296)
|
|
ID: 350 | |
Rosso SM, Donker KL, Baks T et al. Frontotemporal dementia in The Netherlands: patien... Brain 126: 2016-2022, 2003 (PubMed ID: 12876142) |
|
|
MAPT:
(Gly272Val)
(ΔK280;ΔK281)
(Pro301Leu)
(Leu315Arg)
(Ser320Phe)
(Arg406Trp)
|
|
ID: 189 | |
Rosso SM, van Herpen E, Pijnenburg YA et al. Total tau and phosphorylated tau 181 levels in the... Archives of Neurology 60: 1209-1213, 2003 (PubMed ID: 12975285) |
|
|
MAPT:
(Gly272Val)
(Pro301Leu)
|
|
ID: 299 | |
Rosso SM, van Herpen E, Deelen W et al. A novel tau mutation, S320F, causes a tauopathy wi... Annals of Neurology 51: 373-376, 2002 (PubMed ID: 11891833) |
|
|
MAPT:
(Ser320Phe)
|
|
ID: 230 | |
Rossor MN, Fox NC, Beck J et al. Incomplete penetrance of familial Alzheimer's dise... The Lancet 347: 1560, 1996 (PubMed ID: 8684135) |
|
|
PSEN1:
(Ile143Phe)
|
|
ID: 14 | |
Rovelet-Lecrux A, Deramecourt V, Legallic S et al. Deletion of the progranulin gene in patients with... Neurobiology of Disease 31: 41-45, 2008 (PubMed ID: 18479928) |
|
|
GRN:
(delGRN[French])
|
|
ID: 557 | |
Rovelet-Lecrux A, Frebourg T, Tuominen H et al. APP locus duplication in a Finnish family with dem... Journal of Neurology, Neurosurgery and Psychiatry 78: 1158-1159, 2007 (PubMed ID: 17442758) |
|
|
APP:
(dupAPP[Finnish])
|
|
ID: 451 | |
Rovelet-Lecrux A, Hannequin D, Raux G et al. APP locus duplication causes autosomal dominant ea... Nature Genetics 38: 24-26, 2006 (PubMed ID: 16369530) |
|
|
APP:
(dupAPP[F229])
(dupAPP[F019])
(dupAPP[F009])
(dupAPP[F037])
(dupAPP[F028])
|
|
ID: 377 | |
Rudzinski LA, Fletcher RM, Dickson DW et al. Early onset familial Alzheimer Disease with spasti... Alzheimer disease and associated disorders 22: 299-307, 2006 (PubMed ID: 18580586) |
|
|
PSEN1:
(Asn135Ser)
|
|
ID: 553 | |
Rutherford NJ, Zhang YJ, Baker M et al. Novel mutations in TARDBP (TDP-43) in patients wit... PLoS Genetics 4: e1000193, 2008 (PubMed ID: 18802454) |
|
|
TARDBP:
(Ala66)
(Met337Val)
(Asn345Lys)
(Ile383Val)
|
|
ID: 593 | |
Saito Y, Geyer A, Sasaki R et al. Early-onset, rapidly progressive familial tauopath... Neurology 58: 811-813, 2002 (PubMed ID: 11889249) |
|
|
MAPT:
(Arg406Trp)
|
|
ID: 247 | |
Sánchez-Valle R, Lladó A, Ezquerra M et al. A novel mutation in the PSEN1 gene (L286P) associa... European Journal of Neurology 14: 1409-1412, 2007 (PubMed ID: 18028191) |
|
|
PSEN1:
(Leu286Pro)
|
|
ID: 490 | |
Sandbrink R, Zhang D, Schaeffer S et al. Missense mutations of the PS-1/S182 gene in German... Annals of Neurology 40: 265-266, 1996 (PubMed ID: 8773614) |
|
|
PSEN1:
(Met139Val)
(Glu318Gly)
|
|
ID: 12 | |
Sato S, Kamino K, Miki T et al. Splicing mutation of presenilin-1 gene for early-o... Human Mutation 1 Supp: 91-94, 1998 (PubMed ID: 9452052) |
|
|
PSEN1:
(Δ9)
|
|
ID: 55 | |
Scacchi R, Gambina G, Moretto G et al. A mutation screening by DHPLC of PSEN1 and APP gen... Neuroscience Letters 418: 282-285, 2007 (PubMed ID: 17412506) |
|
|
PSEN1:
(Asn32)
|
|
ID: 493 | |
Schenk VW. Re-examination of a family with Pick's disease. Annals of Human Genetics 23: 325-333, 1959 (PubMed ID: 14442619) |
|
|
MAPT:
(Gly272Val)
|
|
ID: 191 | |
Schlachetzki JC, Schmidtke K, Beckervordersandforth J et al. Frequency of progranulin mutations in a German coh... Journal of Neurology 256: 2043-2051, 2009 (PubMed ID: 19618231) |
|
|
GRN:
(Lys259X)
(Arg418X)
|
|
ID: 614 | |
Schröder R, Watts GD, Mehta SG et al. Mutant valosin-containing protein causes a novel t... Annals of Neurology 57: 457-461, 2005 (PubMed ID: 15732117) |
|
|
VCP:
(Arg155Cys)
|
|
ID: 480 | |
Schymick J, Yang Y, Andersen P et al. Progranulin mutations and ALS or ALS-FTD phenotype... Journal of Neurology, Neurosurgery and Psychiatry 78: 754-756, 2007 (PubMed ID: 17371905) |
|
|
GRN:
(Arg19Trp)
(Asp33)
(Ser120Tyr)
(Val141Ile)
(Thr182Met)
(Ala324Thr)
(Pro392)
(Arg433Trp)
(Pro458Leu)
(Arg556Cys)
|
|
ID: 437 | |
Sherrington R, Rogaev EI, Liang Y et al. Cloning of a gene bearing missense mutations in ea... Nature 375: 754-760, 1995 (PubMed ID: 7596406) |
|
|
PSEN1:
(Met146Leu)
(His163Arg)
(Ala246Glu)
(Leu286Val)
(Cys410Tyr)
|
|
ID: 19 | |
Shi Z, Hayashi YK, Mitsuhashi S et al. Characterization of the Asian myopathy patients wi... European Journal of Neurology 19: 501-509, 2012 (PubMed ID: 22040362) |
|
|
VCP:
(Arg93Cys)
(Arg155Cys)
(Arg155His)
(Arg191Gln)
(Ala439Pro)
|
|
ID: 701 | |
Shrimpton AE, Schelper RL, Linke RP et al. A presenilin 1 mutation (L420R) in a family with e... Neuropathology 27: 228-232, 2007 (PubMed ID: 17645236) |
|
|
PSEN1:
(Leu420Arg)
|
|
ID: 446 | |
Sima AA, Defendini R, Keohane C et al. The neuropathology of chromosome 17-linked dementi... Annals of Neurology 39: 734-743, 1996 (PubMed ID: 8651645) |
|
|
MAPT:
(IVS10+14C>T)
|
|
ID: 273 | |
Skibinski G, Parkinson NJ, Brown JM et al. Mutations in the endosomal ESCRTIII-complex subuni... Nature Genetics 37: 806-808, 2005 (PubMed ID: 16041373) |
|
|
CHMP2B:
(Asp148Tyr)
(Danish CHMP2B)
|
|
ID: 465 | |
Skoglund L, Brundin R, Olofsson T et al. Frontotemporal dementia in a large Swedish family... Neurogenetics 10: 27-34, 2009 (PubMed ID: 18855025) |
|
|
GRN:
(Gly35fs)
|
|
ID: 570 | |
Skoglund L, Viitanen M, Kalimo H et al. The tau S305S mutation causes frontotemporal demen... European Journal of Neurology 15: 156-161, 2008 (PubMed ID: 18093153) |
|
|
MAPT:
(Ser305)
|
|
ID: 494 | |
Skoglund L, Englund E, Ingelsson M et al. Mutation analysis of the progranulin gene in a Sca... Neurodegenerative Diseases 4 Supp 1: 38, 2007 |
|
|
GRN:
(Leu53Pro)
|
|
ID: 455 | |
Sleegers K, Brouwers N, Maurer-Stroh S et al. Progranulin genetic variability contributes to amy... Neurology 71: 253-259, 2008 (PubMed ID: 18184915) |
|
|
GRN:
(Asp33)
(Arg110Gln)
(Ile124Thr)
(Asp128)
(Thr138)
(Thr268)
(Ser301)
(Ala324Thr)
(Arg418Gln)
(His447)
|
|
ID: 519 | |
Sleegers K, Brouwers N, Gijselinck I et al. APP duplication is sufficient to cause early onset... Brain 129: 2977-2983, 2006 (PubMed ID: 16921174) |
|
|
APP:
(dupAPP[1104])
|
|
ID: 411 | |
Sleegers K, Roks G, Theuns J et al. Familial clustering and genetic risk for dementia... Brain 127: 1641-1649, 2004 (PubMed ID: 15130954) |
|
|
PSEN2:
(Gly34Ser)
(Arg62Cys)
(Arg62His)
(Arg71Trp)
|
|
ID: 685 | |
Smith MJ, Kwok JBJ, McLean CA et al. Variable phenotype of Alzheimer's disease with spa... Annals of Neurology 49: 125-129, 2001 (PubMed ID: 11198283) |
|
|
PSEN1:
(Δ9)
|
|
ID: 108 | |
Smith MJ, Gardner RJ, Knight MA et al. Early-onset Alzheimer's disease caused by a novel... Neuroreport 10: 503-507, 1999 (PubMed ID: 10208579) |
|
|
PSEN1:
(Leu219Pro)
|
|
ID: 64 | |
Snider BJ, Norton J, Coats MA et al. Novel presenilin 1 mutation (S170F) causing Alzhei... Archives of Neurology 62: 1821-1830, 2005 (PubMed ID: 16344340) |
|
|
PSEN1:
(Ser170Phe)
|
|
ID: 369 | |
Sobrido MJ, Miller BL, Havlioglu N et al. Novel tau polymorphisms, tau haplotypes, and splic... Archives of Neurology 60: 698-702, 2003 (PubMed ID: 12756133) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 261 | |
Sobrido MJ, Abu-Khalil A, Weintraub S et al. Possible association of the tau H1/H1 genotype wit... Neurology 60: 862-864, 2003 (PubMed ID: 12629248) |
|
|
MAPT:
(Arg370Trp)
|
|
ID: 312 | |
Sodeyama N, Iwata T, Ishikawa K et al. Very early onset Alzheimer's disease with spastic... Journal of Neurology, Neurosurgery and Psychiatry 71: 556-557, 2001 (PubMed ID: 11561050) |
|
|
PSEN1:
(Phe237Ile)
|
|
ID: 116 | |
Soliveri P, Rossi G, Monza D et al. A case of dementia parkinsonism resembling progres... Archives of Neurology 60: 1454-1456, 2003 (PubMed ID: 14568818) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 209 | |
Sorbi S, Tedde A, Nacmias B et al. Novel presenilin 1 and presenilin 2 mutations in e... Neurobiology of Aging 23 (1S): S312, 2002 |
|
|
PSEN1:
(Cys92Ser)
(Leu174Met)
(Leu392Pro)
|
|
ID: 124 | |
Sorbi S, Nacmias B, Forleo P et al. Missense mutation of S182 gene in Italian families... The Lancet 346: 439-440, 1995 (PubMed ID: 7623584) |
|
|
PSEN1:
(Met146Leu)
|
|
ID: 17 | |
Sorbi S, Nacmias B, Forleo P et al. Epistatic effect of APP717 mutation and apolipopro... Annals of Neurology 38: 124-127, 1995 (PubMed ID: 7611715) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 50 | |
Sorbi S, Nacmias B, Forleo P et al. APP717 and Alzheimer's disease in Italy. Nature Genetics 4: 10, 1993 (PubMed ID: 8513318) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 49 | |
Sperfeld AD, Collatz MB, Baier H et al. FTDP-17: an early-onset phenotype with parkinsonis... Annals of Neurology 46: 708-715, 1999 (PubMed ID: 10553987) |
|
|
MAPT:
(Pro301Ser)
|
|
ID: 223 | |
Spillantini MG, Yoshida H, Rizzini C et al. A novel tau mutation (N296N) in familial dementia... Annals of Neurology 48: 939-943, 2000 (PubMed ID: 11117553) |
|
|
MAPT:
(Asn296)
|
|
ID: 217 | |
Spillantini MG et al. Tau mutations in familial frontotemporal dementia. Brain 123: 857-859, 2000 (PubMed ID: 10775532) |
|
|
MAPT:
(Ser305)
|
|
ID: 225 | |
Spillantini MG, Crowther RA, Kamphorst W et al. Tau pathology in two Dutch families with mutations... American Journal of Pathology 153: 1359-1363, 1998 (PubMed ID: 9811325) |
|
|
MAPT:
(Gly272Val)
(Pro301Leu)
|
|
ID: 192 | |
Spillantini MG, Murrell JR, Goedert M et al. Mutation in the tau gene in familial multiple syst... Proceedings of the National Academy of Sciences USA 95: 7737-7741, 1998 (PubMed ID: 9636220) |
|
|
MAPT:
(IVS10+3G>A)
|
|
ID: 266 | |
Spillantini MG, Goedert M, Crowther RA et al. Familial multiple system tauopathy with presenile... Proceedings of the National Academy of Sciences USA 94: 4113-4118, 1997 (PubMed ID: 9108114) |
|
|
MAPT:
(IVS10+3G>A)
|
|
ID: 265 | |
Spina S, Murrell JR, Vidal R et al. Neuropathologic and genetic characterization of fr... Alzheimer's & Dementia 4 Supp 2: T431, 2008 |
|
|
GRN:
(Ala9Asp)
(Gln358X)
(Cys474fs)
(Arg493X)
|
|
ID: 552 | |
Spina S, Van Laar AD, Murrell JR et al. Neuropathologic and genetic characterization of fr... Alzheimer's & Dementia 4 Supp 2: T141, 2008 |
|
|
VCP:
(Arg159Cys)
(Arg191Gln)
(Thr262Ala)
|
|
ID: 571 | |
Spina S, Farlow MR, Unverzagt FW et al. The tauopathy associated with mutation +3 in intro... Brain 131: 72-89, 2008 (PubMed ID: 18065436) |
|
|
MAPT:
(IVS10+3G>A)
|
|
ID: 503 | |
Spina S, Murrell JR, Huey ED et al. Corticobasal syndrome associated with the A9D Prog... Journal of Neuropathology and Experimental Neurology 66: 892-900, 2007 (PubMed ID: 17917583) |
|
|
GRN:
(Ala9Asp)
|
|
ID: 505 | |
Spina S, Murrell JR, Yoshida H et al. The novel Tau mutation G335S: clinical, neuropatho... Acta neuropathologica 113: 461-470, 2007 (PubMed ID: 17186252) |
|
|
MAPT:
(Gly335Ser)
|
|
ID: 428 | |
Spina S, Murrell JR, Huey ED et al. Clinicopathologic features of frontotemporal demen... Neurology 68: 820-827, 2007 (PubMed ID: 17202431) |
|
|
GRN:
(Ala237fs)
(Arg433Trp)
(Arg493X)
|
|
ID: 433 | |
Sreedharan J, Blair IP, Tripathi VB et al. TDP-43 mutations in familial and sporadic amyotrop... Science 319: 1668-1672, 2008 (PubMed ID: 18309045) |
|
|
TARDBP:
(Ala90Val)
(Gly294Ala)
(Gln331Lys)
(Met337Val)
|
|
ID: 595 | |
Stanford PM, Brooks WS, Teber ET et al. Frequency of tau mutations in familial and sporadi... Journal of Neurology 251: 1098-1104, 2004 (PubMed ID: 15372253) |
|
|
MAPT:
(Gly86Ser)
(Pro202Leu)
(Asp285Asn)
(Asp285)
(Val289Ala)
(Arg370Trp)
(EX6 His47Tyr)
(EX6 Ser53Pro)
(Pro176)
(Ala227)
(Asn255)
(Pro270)
(Pro301Leu)
(IVS10+16C>T)
|
|
ID: 327 | |
Stanford PM, Shepherd CE, Halliday GM et al. Mutations in the tau gene that cause an increase i... Brain 126: 814-826, 2003 (PubMed ID: 12615641) |
|
|
MAPT:
(IVS10+19C>G)
(IVS10+29G>A)
|
|
ID: 287 | |
Stanford PM, Halliday GM, Brooks WS et al. Progressive supranuclear palsy pathology caused by... Brain 123: 880-893, 2000 (PubMed ID: 10775534) |
|
|
MAPT:
(Ser305)
|
|
ID: 226 | |
Steinbach P. . Personal Communication : , 2009 |
|
|
GRN:
(Tyr294X)
|
|
ID: 667 | |
Steiner H, Revesz T, Neumann M et al. A pathogenic presenilin-1 deletion causes abberran... Journal of Biological Chemistry 276: 7233-7239, 2001 (PubMed ID: 11084029) |
|
|
PSEN1:
(ΔI83/M84)
|
|
ID: 107 | |
Stojkovic T, Hammouda el H, Richard P et al. Clinical outcome in 19 French and Spanish patients... Neuromuscular Disorders 19: 316-323, 2009 (PubMed ID: 19364651) |
|
|
VCP:
(Pro137Leu)
(Arg155Ser)
(Arg155Cys)
(Arg155His)
(Gly157Arg)
(Arg159His)
(Arg191Gln)
(Ala439Ser)
|
|
ID: 651 | |
Sugiyama N, Suzuki K, Matsumura T et al. A novel missense mutation (G209R) in exon 8 of the... Human Mutation 14: 90, 1999 (PubMed ID: 10447269) |
|
|
PSEN1:
(Gly209Arg)
|
|
ID: 71 | |
Swerdlow RH. An Alzheimer disease presenilin mutation, syndrome... Neurology 74: 790-791, 2010 (PubMed ID: 20164096) |
|
|
PSEN1:
(Met146Leu)
|
|
ID: 687 | |
Tabira T, Chui de H, Nakayama H et al. Alzheimer's disease with spastic paresis and cotto... Journal of Neuroscience Research 70: 367-372, 2002 (PubMed ID: 12391599) |
|
|
PSEN1:
(Pro284Leu)
(Δ9)
|
|
ID: 165 | |
Taddei K, Kwok JB, Kril JJ et al. Two novel presenilin-1 mutations (Ser169Leu and Pr... Neuroreport 9: 3335-3339, 1998 (PubMed ID: 9831473) |
|
|
PSEN1:
(Ser169Leu)
(Pro436Gln)
|
|
ID: 60 | |
Tagliavini F, Rossi G, Padovani A et al. A new βPP mutation related to hereditary cere... Alzheimer's Reports 2 Supp 1: S28, 1999 |
|
|
APP:
(Glu693Lys; Italian APP)
|
|
ID: 364 | |
Takamatsu J, Kondo A, Ikegami K et al. Selective expression of Ser 199/202 phosphorylated... Dementia and Geriatric Cognitive Disorders 9: 82-89, 1998 (PubMed ID: 9524799) |
|
|
MAPT:
(IVS10+12C>T)
|
|
ID: 305 | |
Takao M, Ghetti B, Hayakawa I et al. A novel mutation (G217D) in the Presenilin 1 gene... Acta Neuropathologica 104: 155-170, 2002 (PubMed ID: 12111359) |
|
|
PSEN1:
(Gly217Asp)
|
|
ID: 148 | |
Takao M, Ghetti B, Murrell JR et al. Ectopic white matter neurons, a developmental abno... Journal of Neuropathology and Experimental Neurology 60: 1137-1152, 2001 (PubMed ID: 11764087) |
|
|
PSEN1:
(Ser169Leu)
|
|
ID: 147 | |
Tanahashi H, Kawakatsu S, Kaneko M et al. Sequence analysis of presenilin-1 gene mutation in... Neuroscience Letters 218: 139-141, 1996 (PubMed ID: 8945747) |
|
|
PSEN1:
(His163Arg)
(Glu280Ala)
(Gly384Ala)
|
|
ID: 22 | |
Tanahashi H, Mitsunaga Y, Takahashi K et al. Missense mutation of S182 gene in Japanese familia... The Lancet 346: 440, 1995 (PubMed ID: 7623585) |
|
|
PSEN1:
(His163Arg)
|
|
ID: 20 | |
Tanaka R, Kobayashi T, Motoi Y et al. A case of frontotemporal dementia with tau P301L m... Journal of Neurology 247: 705-707, 2000 (PubMed ID: 11081811) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 262 | |
Tang-Wai D, Lewis P, Boeve B et al. Familial frontotemporal dementia associated with a... Dementia and Geriatric Cognitive Disorders 14: 13-21, 2002 (PubMed ID: 12053127) |
|
|
PSEN1:
(InsR352)
|
|
ID: 142 | |
Tateishi T, Hokonohara T, Yamasaki R et al. Multiple system degeneration with basophilic inclu... Acta Neuropathologica 119: 355-364, 2010 (PubMed ID: 19967541) |
|
|
FUS:
(Arg521Cys)
|
|
ID: 633 | |
Tedde A, Nacmias B, Ciantelli M et al. Identification of new presenilin gene mutations in... Archives of Neurology 60: 1541-1544, 2003 (PubMed ID: 14623725) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 349 | |
Tedde A, Forleo P, Nacmias B et al. A presenilin-1 mutation (Leu392Pro) in a familial... Neurology 55: 1590-1591, 2000 (PubMed ID: 11094128) |
|
|
PSEN1:
(Leu392Pro)
|
|
ID: 103 | |
Terreni L, Fogliarino S, Franceschi et al. Novel pathogenic mutation in an Italian patient wi... Neurobiology of Aging 23 (1S): S319, 2002 |
|
|
APP:
(Ile716Thr)
|
|
ID: 126 | |
Terreni L, Valeria C, Calella AM et al. A novel missense mutation (L219F) in exon 8 of the... Neurobiology of Aging 21 Supp1: S176-S177, 2000 |
|
|
PSEN1:
(Met146Leu)
(Leu219Phe)
|
|
ID: 95 | |
Theuns J, Marjaux E, Vandenbulcke M et al. Alzheimer dementia caused by a novel mutation loca... Human Mutation 27: 888-896, 2006 (PubMed ID: 16917905) |
|
|
APP:
(Lys724Asn; Belgian APP)
|
|
ID: 390 | |
Thonberg H, Fallström M, Björkström J et al. Mutation screening of patients with Alzheimer dise... BMC Research Notes 4: 476, 2011 (PubMed ID: 22044463) |
|
|
APP:
(dupAPP[Swedish])
|
|
ID: 698 | |
Ticozzi N, Silani V, LeClerc AL et al. Analysis of FUS gene mutation in familial amyotrop... Neurology 73: 1180-1185, 2009 (PubMed ID: 19741215) |
|
|
FUS:
(Gly156Glu)
(Arg234Leu)
(Arg521Gly)
(Arg521Cys)
(Arg522)
|
|
ID: 630 | |
Tolnay M, Spillantini MG, Rizzini C et al. A new case of frontotemporal dementia and parkinso... Neuropathology and Applied Neurobiology 26: 368-378, 2000 (PubMed ID: 10931371) |
|
|
MAPT:
(IVS10+3G>A)
|
|
ID: 267 | |
Tomaino C, Bernardi L, Anfossi M et al. Presenilin 2 Ser130Leu mutation in a case of late-... Journal of Neurology 254: 391-393, 2007 (PubMed ID: 17345043) |
|
|
PSEN2:
(Ser130Leu)
|
|
ID: 442 | |
Tomiyama T, Nagata T, Shimada H et al. A new amyloid beta variant favoring oligomerizatio... Annals of Neurology 63: 377-387, 2008 (PubMed ID: 18300294) |
|
|
APP:
(Glu693del; ΔGlu693)
|
|
ID: 508 | |
Traykov DL, Mehrabian S, Van den Broeck M et al. Novel PSEN1 mutation in a Bulgarian patient with v... American Journal of Alzheimer's Disease & Other Dementias 24: 404-407, 2009 (PubMed ID: 19797784) |
|
|
PSEN1:
(Leu381Val)
|
|
ID: 655 | |
Dintchov Traykov L, Mehrabian S, Van den Broeck M et al. Novel PSEN1 mutation in a Bulgarian patient with v... American Journal of Alzheimer's Disease & Other Dementias 24: 404-407, 2009 (PubMed ID: 19797784) |
|
|
PSEN1:
(Leu381Val)
|
|
ID: 660 | |
Tremolizzo L, Gelosa G, Galbussera A et al. Higher than expected progranulin mutation rate in... Alzheimer disease and associated disorders 23: 301, 2009 (PubMed ID: 19730171) |
|
|
GRN:
(Asp128)
(Thr272fs)
|
|
ID: 652 | |
Tresse E, Salomons FA, Vesa J et al. VCP/p97 is essential for maturation of ubiquitin-c... Autophagy 6: 217-227, 2010 (PubMed ID: 20104022) |
|
|
VCP:
(Arg155His)
(Ala232Glu)
|
|
ID: 683 | |
Tsuboi Y, Uitti RJ, Baker M et al. Clinical features of frontotemporal dementia due t... Neurology 60: 525-526, 2003 (PubMed ID: 12578950) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 285 | |
Tsuboi Y, Baker M, Hutton ML et al. Clinical and genetic studies of families with the... Neurology 59: 1791-1793, 2002 (PubMed ID: 12473774) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 206 | |
Tsuboi Y, Uitti RJ, Delisle MB et al. Clinical features and disease haplotypes of indivi... Archives of Neurology 59: 943-950, 2002 (PubMed ID: 12056930) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 205 | |
Tysoe C, Whittaker J, Xuereb J et al. A presenilin-1 truncating mutation is present in t... American Journal of Human Genetics 62: 70-76, 1998 (PubMed ID: 9443865) |
|
|
PSEN1:
(Intron4; InsTAC)
|
|
ID: 5 | |
Urwin H, Josephs KA, Rohrer JD et al. FUS pathology defines the majority of tau- and TDP... Acta Neuropathologica 120: 33-41, 2010 (PubMed ID: 20490813) |
|
|
CHMP2B:
(Thr9)
(Thr124)
|
|
ID: 646 | |
Uttner I, Kirchheiner J, Tumani H et al. A novel presenilin1 mutation (Q223R) associated wi... European Journal of Neurology 17: 631-633, 2010 (PubMed ID: 19912322) |
|
|
PSEN1:
(Gln223Arg)
|
|
ID: 634 | |
Van Broeckhoven C, Haan J, Bakker E et al. Amyloid beta protein precursor gene and hereditary... Science 248: 1120-1122, 1990 (PubMed ID: 1971458) |
|
|
APP:
(Glu693Gln; Dutch APP)
|
|
ID: 137 | |
Van Damme P, Goris A, Race V et al. The occurrence of mutations in FUS in a Belgian co... European Journal of Neurology 17: 754-756, 2010 (PubMed ID: 19922450) |
|
|
FUS:
(Arg521His)
|
|
ID: 635 | |
Van Deerlin VM, Leverenz JB, Bekris LM et al. TARDBP mutations in amyotrophic lateral sclerosis... The Lancet Neurology 7: 409-416, 2008 (PubMed ID: 18396105) |
|
|
TARDBP:
(Gly290Ala)
(Gly298Ser)
|
|
ID: 592 | |
Van Deerlin VM, Wood EM, Moore P et al. Clinical, genetic, and pathologic characteristics... Archives of Neurology 64: 1148-1153, 2007 (PubMed ID: 17698705) |
|
|
GRN:
(Arg110X)
(Ser226fs)
(Trp304X)
(Gln337X)
(Arg418X)
(Arg493X)
|
|
ID: 463 | |
van der Zee J, Pirici D, Van Langenhove T et al. Clinical heterogeneity in 3 unrelated families lin... Neurology 73: 626-632, 2009 (PubMed ID: 19704082) |
|
|
VCP:
(Arg159His)
|
|
ID: 624 | |
van der Zee J, Pirici P, Van den Broeck M et al. VCP mutation in frontotemporal lobar degeneration... Alzheimer's & Dementia 4 Supp 2: T141, 2008 |
|
|
VCP:
(Arg159His)
|
|
ID: 546 | |
van der Zee J, Urwin H, Engelborghs S et al. CHMP2B C-truncating mutations in frontotemporal lo... Human Molecular Genetics 17: 313-322, 2008 (PubMed ID: 17956895) |
|
|
CHMP2B:
(Gln165X)
|
|
ID: 485 | |
van der Zee J, Gijselinck I, Pirici D et al. Frontotemporal lobar degeneration with ubiquitin-p... Neurodegenerative Diseases 4: 227-235, 2007 (PubMed ID: 17596717) |
|
|
CHMP2B:
(Asn143Ser)
(Gln165X)
|
|
ID: 472 | |
van der Zee J, Le Ber I, Maurer-Stroh S et al. Mutations other than null mutations producing a pa... Human Mutation 28: 416, 2007 (PubMed ID: 17345602) |
|
|
GRN:
(Asp33)
(Pro34)
(Gly93)
(Ser106Asn)
(Asp128)
(Cys158Tyr)
(Arg212Gln)
(Thr220Ser)
(Pro248Leu)
(Ser258Asn)
(Leu261Ile)
(Thr268)
(Ser301)
(Lys332)
(Arg418Gln)
(Arg432Cys)
(Arg433Trp)
(Pro470Leu)
(Cys475)
(Cys495)
(Gly515Ala)
(Val550Ile)
(Cys565)
|
|
ID: 441 | |
van der Zee J, Rademakers R, Engelborghs S et al. A Belgian ancestral haplotype harbours a highly pr... Brain 129: 841-852, 2006 (PubMed ID: 16495329) |
|
|
MAPT:
(Gly273Arg)
|
|
ID: 379 | |
van der Zee J, Gijselinck I, Dillen L et al. A Pan-European study of the C9orf72 repeat associa... Human Mutation : , 2012 (PubMed ID: 23111906) |
|
|
C9orf72:
(g.26746_26773del)
(g.26746_26761del)
(g.26747_26756delGTGGTCGGGG)
(g.26747_26751delGTGGT)
(g.26747_26768del)
(g.26742_26764del)
(g.26752_26762delCGGGGCGGGCC)
(g.26752_26774del)
(g.26753_26764delGGGGCGGGCCCG)
(g.26775_26776insG)
(g.26775_26776insGGGGCGGGCCCG)
(Thr66Ser)
|
|
ID: 702 | |
van Herpen E, Rosso SM, Serverijnen LA et al. Variable phenotypic expression and extensive tau p... Annals of Neurology 54: 573-581, 2003 (PubMed ID: 14595646) |
|
|
MAPT:
(Leu315Arg)
|
|
ID: 231 | |
Van Langenhove T, van der Zee J, Sleegers K et al. Genetic contribution of FUS to frontotemporal loba... Neurology 74: 366-371, 2010 (PubMed ID: 20124201) |
|
|
FUS:
(Gly174_Gly175del; delGG)
(Met254Val)
(Arg521His)
|
|
ID: 659 | |
van Swieten JC, Stevens M, Rosso SM et al. Phenotypic variation in hereditary frontotemporal... Annals of Neurology 46: 617-626, 1999 (PubMed ID: 10514099) |
|
|
MAPT:
(Gly272Val)
(Pro301Leu)
(Arg406Trp)
|
|
ID: 193 | |
Vance C, Rogelj B, Hortobágyi T et al. Mutations in FUS, an RNA processing protein, cause... Science 323: 1208-1211, 2009 (PubMed ID: 19251628) |
|
|
FUS:
(Arg514Gly)
(Arg521Cys)
(Arg521His)
|
|
ID: 625 | |
Verkkoniemi A, Somer M, Rinne JO et al. Variant Alzheimer's disease with spastic parapares... Neurology 54: 1103-1109, 2000 (PubMed ID: 10720282) |
|
|
PSEN1:
(Δ9Finn)
|
|
ID: 89 | |
Viassolo V, Previtali SC, Schiatti E et al. Inclusion body myopathy, Paget's disease of the bo... Clinical Genetics 74: 54-60, 2008 (PubMed ID: 18341608) |
|
|
VCP:
(Arg155His)
|
|
ID: 513 | |
Wakutani Y. Gene symbol: APP. Disease: Familial Alzheimer's di... Human Genetics 117: 299, 2005 (PubMed ID: 16156029) |
|
|
APP:
(Asp678Asn, Tottori APP)
|
|
ID: 367 | |
Wakutani Y, Watanabe K, Adachi Y et al. Novel amyloid precursor protein gene missense muta... Journal of Neurology, Neurosurgery and Psychiatry 75: 1039-1042, 2004 (PubMed ID: 15201367) |
|
|
APP:
(Asp678Asn, Tottori APP)
|
|
ID: 338 | |
Walker RH, Friedman J, Wiener J et al. A family with a tau P301L mutation presenting with... Parkinsonism and Related Disorders 9: 121-123, 2002 (PubMed ID: 12473404) |
|
|
MAPT:
(Pro301Leu)
|
|
ID: 263 | |
Wasco W, Pettingell WP, Jondro PD et al. Familial Alzheimer's chromosome 14 mutations. Nature Medicine 1: 848, 1995 (PubMed ID: 7585193) |
|
|
PSEN1:
(Cys263Arg)
(Pro264Leu)
|
|
ID: 29 | |
Watts GD, Thomasova D, Ramdeen SK et al. Novel VCP mutations in inclusion body myopathy ass... Clinical Genetics 72: 420-426, 2007 (PubMed ID: 17935506) |
|
|
VCP:
(Leu198Trp)
(Asn387His)
|
|
ID: 481 | |
Watts GD, Wymer J, Kovach MJ et al. Inclusion body myopathy associated with Paget dise... Nature Genetics 36: 377-381, 2004 (PubMed ID: 15034582) |
|
|
VCP:
(Arg95Gly)
(Arg155Cys)
(Arg155His)
(Arg155Pro)
(Arg191Gln)
(Ala232Glu)
|
|
ID: 478 | |
Wijker M, Wszolek ZK, Wolters EC et al. Localization of the gene for rapidly progressive a... Human Molecular Genetics 5: 151-154, 1996 (PubMed ID: 8789453) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 199 | |
Wilhelmsen KC, Lynch T, Pavlou E et al. Localization of disinhibition-dementia-parkinsonis... American Journal of Human Genetics 55: 1159-1165, 1994 (PubMed ID: 7977375) |
|
|
MAPT:
(IVS10+14C>T)
|
|
ID: 274 | |
Williams KL, Durnall JC, Thoeng AD et al. A novel TARDBP mutation in an Australian amyotroph... Journal of Neurology, Neurosurgery and Psychiatry 80: 1286-1288, 2009 (PubMed ID: 19864664) |
|
|
TARDBP:
(Gly294Val)
|
|
ID: 639 | |
Winton MJ, Van Deerlin VM, Kwong LK et al. A90V TDP-43 variant results in the aberrant locali... FEBS Letters 582: 2252-2256, 2008 (PubMed ID: 18505686) |
|
|
TARDBP:
(Ala90Val)
|
|
ID: 603 | |
Wisniewski T, Dowjat WK, Buxbaum JD et al. A novel Polish presenilin-1 mutation (P117L) is as... NeuroReport 9: 217-221, 1998 (PubMed ID: 9507958) |
|
|
PSEN1:
(Pro117Leu)
|
|
ID: 6 | |
Wong S et al. . Personal Communication : , 2008 |
|
|
GRN:
(Arg547Cys)
|
|
ID: 534 | |
Wong SH, Lecky BR, Steiger MJ. Parkinsonism and impulse control disorder: present... Movement Disorders 24: 618-619, 2009 (PubMed ID: 19133655) |
|
|
GRN:
(Arg547Cys)
|
|
ID: 616 | |
Woodruff BK, Baba Y, Hutton ML et al. Haplotype-phenotype correlations in kindreds with... Archives of Neurology 61: 1327, 2004 (PubMed ID: 15313857) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 324 | |
Wszolek ZK, Tsuboi Y, Uitti RJ et al. Progressive supranuclear palsy as a disease phenot... Brain 124: 1666-1670, 2001 (PubMed ID: 11459757) |
|
|
MAPT:
(Ser305)
|
|
ID: 227 | |
Wszolek ZK, Tsuboi Y, Uitti RJ et al. Two brothers with frontotemporal dementia and park... Neurology 55: 1939, 2000 (PubMed ID: 11134413) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 208 | |
Wszolek ZK, Lagerlund TD, Steg RE et al. Clinical neurophysiologic findings in patients wit... Electroencephalography and Clinical Neurophysiology 107: 213-222, 1998 (PubMed ID: 9803952) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 200 | |
Wszolek ZK, Pfeiffer RF, Bhatt MH et al. Rapidly progressive autosomal dominant parkinsonis... Annals of Neurology 32: 312-320, 1992 (PubMed ID: 1416801) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 201 | |
Yamaoka LH, Welsh-Bohmer KA, Hulette CM et al. Linkage of frontotemporal dementia to chromosome 1... American Journal of Human Genetics 59: 1306-1312, 1996 (PubMed ID: 8940276) |
|
|
MAPT:
(IVS10+16C>T)
|
|
ID: 286 | |
Yasuda M, Yokoyama K, Nakayasu T et al. A Japanese patient with frontotemporal dementia an... Neurology 55: 1224-1227, 2000 (PubMed ID: 11071507) |
|
|
MAPT:
(Pro301Ser)
|
|
ID: 224 | |
Yasuda M, Takamatsu J, D'Souza I et al. A novel mutation at position +12 in the intron fol... Annals of Neurology 47: 422-429, 2000 (PubMed ID: 10762152) |
|
|
MAPT:
(IVS10+12C>T)
|
|
ID: 271 | |
Yasuda M, Maeda S, Kawamata T et al. Novel presenilin-1 mutation with widespread cortic... Journal of Neurology, Neurosurgery and Psychiatry 68: 220-223, 2000 (PubMed ID: 10644793) |
|
|
PSEN1:
(Asn405Ser)
|
|
ID: 69 | |
Yasuda M, Kawamata T, Komure O et al. A mutation in the microtubule-associated protein t... Neurology 53: 864-868, 1999 (PubMed ID: 10489057) |
|
|
MAPT:
(Asn279Lys)
|
|
ID: 203 | |
Yasuda M, Maeda K, Hashimoto M et al. A pedigree with a novel presenilin 1 mutation at a... Archives of Neurology 56: 65-69, 1999 (PubMed ID: 9923762) |
|
|
PSEN1:
(Glu123Lys)
|
|
ID: 57 | |
Yasuda M, Maeda K, Ikejiri Y et al. A novel missense mutation in the presenilin-1 gene... Neuroscience Letters 232: 29-32, 1997 (PubMed ID: 9292884) |
|
|
PSEN1:
(Glu184Asp)
|
|
ID: 24 | |
Yescas P, Huertas-Vazquez A, Villarreal-Molina MT et al. Founder effect for the Ala431Glu mutation of the p... Neurogenetics 7: 195-200, 2006 (PubMed ID: 16628450) |
|
|
PSEN1:
(Ala431Glu)
|
|
ID: 383 | |
Yokoseki A, Shiga A, Tan CF et al. TDP-43 mutation in familial amyotrophic lateral sc... Annals of Neurology 63: 538-542, 2008 (PubMed ID: 18438952) |
|
|
TARDBP:
(Gln343Arg)
|
|
ID: 591 | |
Yoshioka K, Miki T, Katsuya T et al. The 717Val->Ile substitution in amyloid precursor... Biochemical and Biophysical Research Communications 178: 1141-1146, 1991 (PubMed ID: 1908231) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 43 | |
Yoshizawa T, Komatsuzaki Y, Iwamoto H et al. Screening of the mis-sense mutation producing the... Journal of the Neurological Sciences 117: 12-15, 1993 (PubMed ID: 8410047) |
|
|
APP:
(Val717Ile; London APP)
|
|
ID: 51 | |
Yu CE, Bird TD, Bekris LM et al. The spectrum of mutations in progranulin: a collab... Archives of Neurology 67: 161-170, 2010 (PubMed ID: 20142524) |
|
|
GRN:
(Cys31fs)
(Arg110X)
(Gln130fs)
(Ser226fs)
(Thr272fs)
(Trp304X)
(Gln337X)
(Trp386X)
(Arg418X)
(Gln468X)
(Arg493X)
|
|
ID: 642 | |
Zarranz JJ, Ferrer I, Lezcano E et al. A novel mutation (K317M) in the MAPT gene causes F... Neurology 64: 1578-1585, 2005 (PubMed ID: 15883319) |
|
|
MAPT:
(Lys317Met)
|
|
ID: 357 | |
Zarranz JJ, Ferrer I, Lezcano E et al. A novel mutation (K317M) in the MAPT gene causes a... Genotype-Proteotype-Phenotype Relationships in Neurodegenerative Diseases. IPSEN Meeting, Paris : , 2004 |
|
|
MAPT:
(Lys317Met)
|
|
ID: 329 | |
Zekanowski C, Golan MP, Krzysko KA et al. Two novel presenilin 1 gene mutations connected wi... Experimental Neurology 200: 82-88, 2006 (PubMed ID: 16546171) |
|
|
PSEN1:
(Leu226Phe)
(Leu424His)
|
|
ID: 435 | |
Zekanowski C, Styczynska M, Peplonska B et al. Mutations in presenilin 1, presenilin 2 and amyloi... Experimental Neurology 184: 991-996, 2003 (PubMed ID: 14769392) |
|
|
APP:
(Thr714Ala, Iranian APP)
(Val715Ala; German APP)
|
|
ID: 317 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
 |
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