Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Heutink P. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702-705, 1998 (PubMed ID: 9641683)

Mutations

MAPT: (Gly272Val) (Pro301Leu) (IVS10+13A>G) (IVS10+14C>T) (IVS10+16C>T) (Arg406Trp)

ID: 187

Geschwind D, Karrim J, Nelson SF, Miller B. The apolipoprotein E epsilon4 allele is not a significant risk factor for frontotemporal dementia.. Annals of Neurology 44: 134-138, 1998 (PubMed ID: 9667603)

Mutations

MAPT: (Pro301Leu)

ID: 251

Dumanchin C, Camuzat A, Campion D, Verpillat P, Hannequin D, Dubois B, Saugier-Veber P, Martin C, Penet C, Charbonnier F, Agid Y, Frebourg T, Brice A. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Human Molecular Genetics 7: 1825-1829, 1998 (PubMed ID: 9736786)

Mutations

MAPT: (Pro301Leu)

ID: 250

Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proceedings of the National Academy of Sciences USA 95: 13103-13107, 1998 (PubMed ID: 9789048)

Mutations

MAPT: (Asn279Lys) (Pro301Leu) (IVS10+14C>T)

ID: 196

Spillantini MG, Crowther RA, Kamphorst W, Heutink P, van Swieten JC. Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. American Journal of Pathology 153: 1359-1363, 1998 (PubMed ID: 9811325)

Mutations

MAPT: (Gly272Val) (Pro301Leu)

ID: 192

Rizzu P, van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A, Niermeijer MF, Hillebrand M, Ravid R, Oostra BA, Goedert M, van Duijn CM, Heutink P. High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. American Journal of Human Genetics 64: 414-421, 1999 (PubMed ID: 9973279)

Mutations

MAPT: (Pro176) (Ala227) (Asn255) (Pro270) (Gly272Val) (ΔK280;ΔK281) (Pro301Leu) (Arg406Trp)

ID: 188

Bird TD, Nochlin D, Poorkaj P, Cherrier M, Kaye J, Payami H, Peskind E, Lampe TH, Nemens E, Boyer PJ, Schellenberg GD. A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L). Brain 122: 741-756, 1999 (PubMed ID: 10219785)

Mutations

MAPT: (Pro301Leu)

ID: 249

Mirra SS, Murrell JR, Gearing M, Spillantini MG, Goedert M, Crowther RA, Levey AI, Jones R, Green J, Shoffner JM, Wainer BH, Schmidt ML, Trojanowski JQ, Ghetti B. Tau pathology in a family with dementia and a P301L mutation in tau. Journal of Neuropathology and Experimental Neurology 58: 335-345, 1999 (PubMed ID: 10218629)

Mutations

MAPT: (Pro301Leu)

ID: 257

Nasreddine ZS, Loginov M, Clark LN, Lamarche J, Miller BL, Lamontagne A, Zhukareva V, Lee VM, Wilhelmsen KC, Geschwind DH. From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Annals of Neurology 45: 704-715, 1999 (PubMed ID: 10360762)

Mutations

MAPT: (Pro301Leu)

ID: 258

Houlden H, Baker M, Adamson J, Grover A, Waring S, Dickson D, Lynch T, Boeve B, Petersen RC, Pickering-Brown S, Owen F, Neary D, Craufurd D, Snowden J, Mann D, Hutton M. Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Annals of Neurology 46: 243-248, 1999 (PubMed ID: 10443890)

Mutations

MAPT: (Tyr18) (Thr39) (Ala178Thr) (Ala227) (Asn255) (Pro270) (Pro301Leu) (IVS10+13A>G) (IVS10+16C>T)

ID: 253

van Swieten JC, Stevens M, Rosso SM, Rizzu P, Joosse M, de K, I, Kamphorst W, Ravid R, Spillantini MG, Niermeijer, Heutink P. Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Annals of Neurology 46: 617-626, 1999 (PubMed ID: 10514099)

Mutations

MAPT: (Gly272Val) (Pro301Leu) (Arg406Trp)

ID: 193

Kodama K, Okada S, Iseki E, Kowalska A, Tabira T, Hosoi N, Yamanouchi N, Noda S, Komatsu N, Nakazato M, Kumakiri C, Yazaki M, Sato T. Familial frontotemporal dementia with a P301L tau mutation in Japan. Journal of the Neurological Sciences 176: 57-64, 2000 (PubMed ID: 10865093)

Mutations

MAPT: (Pro301Leu)

ID: 255

Tanaka R, Kobayashi T, Motoi Y, Anno M, Mizuno Y, Mori H. A case of frontotemporal dementia with tau P301L mutation in the Far East. Journal of Neurology 247: 705-707, 2000 (PubMed ID: 11081811)

Mutations

MAPT: (Pro301Leu)

ID: 262

Rizzu P, Joosse M, Ravid R, Hoogeveen A, Kamphorst W, van Swieten JC, Willemsen R, Heutink P. Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients. Human Molecular Genetics 9: 3075-3082, 2000 (PubMed ID: 11115852)

Mutations

MAPT: (Pro301Leu)

ID: 260

Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, Tabira T, Trojanowski JQ, Borson S, Galasko D, Reich S, Quinn B, Schellenberg G, Bird TD. Frequency of tau gene mutations in familial and sporadic cases of non- Alzheimer dementia. Archives of Neurology 58: 383-387, 2001 (PubMed ID: 11255441)

Mutations

MAPT: (Pro176) (Ala227) (Asn255) (Pro270) (Leu284) (Pro301Leu) (Ser305Asn) (IVS10+16C>T)

ID: 259

Kowalska A, Asada T, Arima K, Kumakiri C, Kozubski W, Takahashi K, Tabira T. Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4. Dementia and Geriatric Cognitive Disorders 12: 387-392, 2001 (PubMed ID: 11598310)

Mutations

MAPT: (Pro176) (EX8 Thr2) (Asn279Lys) (Pro301Leu)

ID: 256

Kobayashi T, Mori H, Okuma Y, Dickson DW, Cookson N, Tsuboi Y, Motoi Y, Tanaka R, Miyashita N, Anno M, Narabayashi H, Mizuno Y. Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. Journal of Neurology 249: 669-67, 2002 (PubMed ID: 12111297)

Mutations

MAPT: (Pro301Leu)

ID: 254

Walker RH, Friedman J, Wiener J, Hobler R, Gwinn-Hardy K, Adam A, DeWolfe J, Gibbs R, Baker M, Farrer M, Hutton M, Hardy J. A family with a tau P301L mutation presenting with parkinsonism. Parkinsonism and Related Disorders 9: 121-123, 2002 (PubMed ID: 12473404)

Mutations

MAPT: (Pro301Leu)

ID: 263

Binetti G, Nicosia F, Benussi L, Ghidoni R, Feudatari E, Barbiero L, Signorini S, Villa A, Mattioli F, Zanetti O, Alberici A. Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients. Neuroscience Letters 338: 85-87, 2003 (PubMed ID: 12565146)

Mutations

MAPT: (Pro301Leu)

ID: 248

Sobrido MJ, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH. Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia. Archives of Neurology 60: 698-702, 2003 (PubMed ID: 12756133)

Mutations

MAPT: (Pro301Leu)

ID: 261

Rosso SM, Donker KL, Baks T, Joosse M, de K, I, Pijnenburg Y, de Jong D, Dooijes D, Kamphorst W, Ravid R, Niermeijer MF, Verheij F, Kremer HP, Scheltens P, van Duijn CM, Heutink P, van Swieten JC. Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain 126: 2016-2022, 2003 (PubMed ID: 12876142)

Mutations

MAPT: (Gly272Val) (ΔK280;ΔK281) (Pro301Leu) (Leu315Arg) (Ser320Phe) (Arg406Trp)

ID: 189

Rosso SM, van Herpen E, Pijnenburg YA, Schoonenboom NS, Scheltens P, Heutink P, van Swieten JC. Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. Archives of Neurology 60: 1209-1213, 2003 (PubMed ID: 12975285)

Mutations

MAPT: (Gly272Val) (Pro301Leu)

ID: 299

Stanford PM, Brooks WS, Teber ET, Hallupp M, McLean C, Halliday GM, Martins RN, Kwok JB, Schofield PR. Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. Journal of Neurology 251: 1098-1104, 2004 (PubMed ID: 15372253)

Mutations

MAPT: (Gly86Ser) (Pro202Leu) (Asp285Asn) (Asp285) (Val289Ala) (Arg370Trp) (EX6 His47Tyr) (EX6 Ser53Pro) (Pro176) (Ala227) (Asn255) (Pro270) (Pro301Leu) (IVS10+16C>T)

ID: 327

Benussi L, Ghidoni R, Paterlini A, Nicosia F, Alberici AC, Signorini S, Barbiero L, Binetti G.. Interaction between tau and alpha-synuclein proteins is impaired in the presence of P301L tau mutation. Experimental Cell Research 308: 78-84, 2005 (PubMed ID: 15904919)

Mutations

MAPT: (Pro301Leu)

ID: 359

Lladó A, Ezquerra M, Rey MJ, Fernandez M, Sanchez-Valle R, Tolosa E, Ferrer I, Molinuevo JL. Genetic and clinicopathological correlation of frontotemporal lobar degeneration. Journal of Neurology 253 Suppl 2: ii40, 2006 (PubMed ID: 16710641)

Mutations

MAPT: (Pro301Leu)

ID: 410

Lladó A, Sánchez-Valle R, Rey MJ, Ezquerra M, Tolosa E, Ferrer I, Molinuevo JL; Catalan collaborative Study Group for FTLD. Clinicopathological and genetic correlates of frontotemporal lobar degeneration and corticobasal degeneration. Journal of Neurology 255: 488-494, 2008 (PubMed ID: 18357425)

Mutations

MAPT: (Pro301Leu)

ID: 524

López de Munain A, Alzualde A, Gorostidi A, Otaegui D, Ruiz-Martínez J, Indakoetxea B, Ferrer I, Pérez-Tur J, Sáenz A, Bergareche A, Barandiarán M, Poza JJ, Zabalza R, Ruiz I, Urtasun M, Fernández-Manchola I, Olasagasti B, Espinal JB, Olaskoaga J, Ruibal M, Moreno F, Carrera N, Massó JF. Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings. Biological Psychiatry 63: 946-952, 2008 (PubMed ID: 17950702)

Mutations

GRN: (Val5Leu) (Arg177His) (Ala237fs) (Pro357fs)
MAPT: (Pro301Leu)

ID: 500