Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nature Genetics 40: 572-574, 2008 (PubMed ID: 18372902)

Mutations

TARDBP: (Ala66) (Ala90Val) (Asp169Gly) (Gly287Ser) (Ala315Thr) (Ala315) (Gly348Cys) (Arg361Ser) (Ala382Thr) (Asn390Asp) (Asn390Ser)

ID: 599

Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle FE, Silani V, D'Alfonso S. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Human Mutation 30: 688-694, 2009 (PubMed ID: 19224587)

Mutations

TARDBP: (Ser29) (Ala66) (Asn267Ser) (Gly287Ser) (Gly294Val) (Gly295Ser) (Gly295Arg) (Ala315) (Ser332Asn) (Gly335Asp) (Met337Val) (Ser379Pro) (Ser379Cys) (Ala382Thr) (Ser393Leu)

ID: 600

Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, Hibberd R, Hollinger HC, Wharton SB, Morrison KE, Ince PG, McDermott CJ, Shaw PJ. Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. Neurogenetics 11: 217-225, 2010 (PubMed ID: 19760257)

Mutations

TARDBP: (Leu27) (Ala66) (Ala90Val) (Ser104) (Lys137) (Gly287Ser) (Ala321Val) (Met337Val) (Gly348Val)

ID: 653