Van Deerlin VM, Wood EM, Moore P, Yuan W, Forman MS, Clark CM, Neumann M, Kwong LK, Trojanowski JQ, Lee VM, Grossman M. Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. Archives of Neurology 64: 1148-1153, 2007 (PubMed ID: 17698705)

Mutations

GRN: (Arg110X) (Ser226fs) (Trp304X) (Gln337X) (Arg418X) (Arg493X)

ID: 463

Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Broeckhoven CV, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A; the French research network on FTD/FTD-MND. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain 131: 732-746, 2008 (PubMed ID: 18245784)

Mutations

GRN: (Met1) (Trp7Arg) (Arg110X) (Asn118fs) (Val121fs) (Pro127fs) (Gln130fs) (Ala155fs) (Cys157fs) (Val200fs; IVS7+1G>A) (Cys253X) (Thr272fs) (Cys314X) (Cys366fs) (Gln401X) (Ala412fs) (Glu498fs)

ID: 501

Yu CE, Bird TD, Bekris LM, Montine TJ, Leverenz JB, Steinbart E, Galloway NM, Feldman H, Woltjer R, Miller CA, Wood EM, Grossman M, McCluskey L, Clark CM, Neumann M, Danek A, Galasko DR, Arnold SE, Chen-Plotkin A, Karydas A, Miller BL, Trojanowski JQ, Lee VM, Schellenberg GD, Van Deerlin VM. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Archives of Neurology 67: 161-170, 2010 (PubMed ID: 20142524)

Mutations

GRN: (Cys31fs) (Arg110X) (Gln130fs) (Ser226fs) (Thr272fs) (Trp304X) (Gln337X) (Trp386X) (Arg418X) (Gln468X) (Arg493X)

ID: 642