Sandbrink R, Zhang D, Schaeffer S, Masters CL, Bauer J, Forstl H, Beyreuther K. Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients. Annals of Neurology 40: 265-266, 1996 (PubMed ID: 8773614)

Mutations

PSEN1: (Met139Val) (Glu318Gly)

ID: 12

Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Human Molecular Genetics 7: 43-51, 1998 (PubMed ID: 9384602)

Mutations

PSEN1: (Ala79Val) (Tyr115Cys) (Ala231Val) (Glu318Gly)
PSEN2: (Arg62His)

ID: 2

Aldudo J, Bullido MJ, Frank A, Valdivieso F. Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism. Annals of Neurology 44: 985-986, 1998 (PubMed ID: 9851450)

Mutations

PSEN1: (Glu318Gly)

ID: 161

Mattila KM, Forsell C, Pirttila T, Rinne JO, Lehtimaki T, Roytta M, Lilius L, Eerola A, St George-Hyslop PH, Frey H, Lannfelt L. The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. Annals of Neurology 44: 965-967, 1998 (PubMed ID: 9851443)

Mutations

PSEN1: (Glu318Gly)

ID: 162

Dermaut B, Cruts M, Slooter AJ, Van Gestel S, De Jonghe C, Vanderstichele H, Vanmechelen E, Breteler MM, Hofman A, van Duijn CM, Van Broeckhoven C. The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease. American Journal of Human Genetics 64: 290-292, 1999 (PubMed ID: 9915968)

Mutations

PSEN1: (Glu318Gly)

ID: 163

Helisalmi S, Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Alafuzoff I, Ryynanen M, Soininen H. Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease. Neuroscience Letters 278: 65-68, 2000 (PubMed ID: 10643802)

Mutations

PSEN1: (Glu318Gly)

ID: 164

Goldman JS, Johnson JK, McElligott K, Suchowersky O, Miller BL, Van Deerlin VM. Presenilin 1 Glu318Gly polymorphism: interpret with caution. Archives of Neurology 62: 1624-1627, 2005 (PubMed ID: 16216949)

Mutations

PSEN1: (Glu318Gly)

ID: 573

Raux G, Guyant-Marechal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. Journal of Medical Genetics 42: 793-795, 2005 (PubMed ID: 16033913)

Mutations

APP: (Thr714Ile, Austrian APP) (Val717Ile; London APP)
PSEN1: (Arg35Gln) (Phe105Ile) (Thr116Asn) (Thr116Ile) (Glu120Asp) (Ile143Asn) (Ile143Thr) (Leu153Val) (Phe177Leu) (Gly206Ser) (Gly206Asp) (His214Tyr) (Met233Thr) (Pro264Leu) (Glu280Gly) (Glu318Gly) (Phe386Ser) (Val391Phe) (Leu392Val) (Leu424His)

ID: 376

Batelli S, Albani D, Prato F, Polito L, Franceschi M, Gavazzi A, Forloni G. Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V. Alzheimer Disease and Associated Disorders 22: 184-187, 2008 (PubMed ID: 18525293)

Mutations

PSEN1: (Glu318Gly) (Gly394Val)

ID: 544

Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Puccio G, Colao R, Frangipane F, Mirabelli M, Smirne N, Giovanni Maletta R, Bruni AC. Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism. Journal of Neurology 255: 604-606, 2008 (PubMed ID: 18350357)

Mutations

PSEN1: (Glu318Gly)
PSEN2: (Val139Met)

ID: 514

Gallo M, Tomaino C, Bernardi L, Maletta R, Anfossi M, Geracitano S, VassoF, Puccio G, Colao R, Frangipane G, Mirabelli M, Smirne N, Muraca MG, De Vito O, Bruni AC. PS1 polymporphism and a novel PS2 mutation in a patient with late-onset familial Alzheimer's disease. Alzheimer's & Dementia 4 Supp 2: T585, 2008

Mutations

PSEN1: (Glu318Gly)
PSEN2: (Val139Met)

ID: 607

Lindquist S, Schwartz M, Batbayli M, Waldemar G, Nielsen J. Genetic testing in familial AD and FTD: Mutation and phenotype spectrum in a Danish cohort. Clinical Genetics 76: 205-209, 2009 (PubMed ID: 19659892)

Mutations

APP: (Thr714Ala, Iranian APP)
PSEN1: (Glu120Lys) (Met146Ile) (Glu318Gly)
PSEN2: (Val393Met)
GRN: (Thr52fs) (Trp386X)
MAPT: (IVS10+29G>A) (Arg406Trp)

ID: 621