Abou-Sleiman PM, Muqit MM, McDonald NQ, Yang YX, Gandhi S, Healy DG, Harvey K, Harvey RJ, Deas E, Bhatia K, Quinn N, Lees A, Latchman DS, Wood NW. A heterozygous effect for PINK1 mutations in Parkinson's disease?. Ann Neurol 60: 414-9, 2006 (PubMed ID: 16969854)

Mutations

PINK1: (Val317Ile) (Ala339Thr) (Ala383Thr) (Gly411Ser) (Tyr431His) (Asn451Ser) (Gln456Stop) (Glu476Lys) (Cys575Arg)

ID: 328

Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, Valente EM; Italian PD Study Group.. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat 29: 565, 2008 (PubMed ID: 18330912)

Mutations

PINK1: (Leu67Phe) (Arg68Pro) (Arg98Trp) (Ile111Ser) (Ala124Val) (Thr145Met) (Lys186Asn) (Thr257Ile) (Leu268Val) (Arg276Gln) (Pro296Leu) (Val317Ile) (Pro322Leu) (Ala339Thr) (Ala383Thr) (Gly395Val) (23bp del ex7) (Ile442Thr) (Gln456Stop) (Glu476Lys) (Asp525Asn) (Asp537Thr)

ID: 404

Gelmetti V, Ferraris A, Brusa L, Romano F, Lombardi F, Barzaghi C, Stanzione P, Garavaglia B, Dallapiccola B, Valente EM. Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. Mov Disord 23: 881-5, 2008 (PubMed ID: 18307263)

Mutations

PINK1: (Ala244Gly) (Val317Ile)

ID: 344