Schymick J, Yang Y, Andersen P, Vonsattel J, Greenway M, Momeni P, Elder J, Chio A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli R, Hutton M, Gass J, Cannon A, Rademakers R, Singleton A, Hardiman O, Rothstein J, Hardy J, Traynor B. Progranulin mutations and ALS or ALS-FTD phenotypes. Journal of Neurology, Neurosurgery and Psychiatry 78: 754-756, 2007 (PubMed ID: 17371905)

Mutations

GRN: (Arg19Trp) (Asp33) (Ser120Tyr) (Val141Ile) (Thr182Met) (Ala324Thr) (Pro392) (Arg433Trp) (Pro458Leu) (Arg556Cys)

ID: 437

Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Human Mutation 31: E1126-E1140, 2010 (PubMed ID: 20020531)

Mutations

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)
MAPT: (His14) (Thr17Met) (Tyr18) (Thr30Ala) (Pro200) (Ala227) (Asn255) (Leu266) (Pro270) (Val300Ile)

ID: 641

Del Bo R, Corti S, Santoro D, Ghione I, Fenoglio C, Ghezzi S, Ranieri M, Galimberti D, Mancuso M, Siciliano G, Briani C, Murri L, Scarpini E, Schymick JC, Traynor BJ, Bresolin N, Comi GP. No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort. Neurobiology of Aging 32: 1157-1158, 2011 (PubMed ID: 19632744)

Mutations

GRN: (Arg19Trp) (Asp33) (Ser120Tyr) (Asp128) (Asp518)

ID: 615