Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304: 1158-60, 2004 (PubMed ID: 15087508)

Mutations

PINK1: (IVS1-7A>G) (Gly309Asp) (Arg312) (IVS4-5G>A) (Ala340Thr) (Trp437Stop) (Asn521Thr)

ID: 316

Rohé CF, Montagna P, Breedveld G, Cortelli P, Oostra BA, Bonifati V. Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann Neurol 56: 427-31, 2004 (PubMed ID: 15349871)

Mutations

PINK1: (Asn521Thr) (Asp525fs)

ID: 323

Groen JL, Kawarai T, Toulina A, Rivoiro C, Salehi-Rad S, Sato C, Morgan A, Liang Y, Postuma RB, St George-Hyslop P, Lang AE, Rogaeva E. Genetic association study of PINK1 coding polymorphisms in Parkinson's disease. Neurosci Lett 372: 226-9, 2004 (PubMed ID: 15542245)

Mutations

PINK1: (Leu63) (Ala340Thr) (Asn521Thr)

ID: 351

Schlitter AM, Kurz M, Larsen JP, Woitalla D, Mueller T, Epplen JT, Dekomien G. Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations. J Negat Results Biomed 4: , 2005 (PubMed ID: 16354302)

Mutations

PINK1: (Leu63) (Gln115Leu) (IVS4-5G>A) (Asn521Thr) (c.*37T>A)

ID: 325

Clarimón J, Eerola J, Hellström O, Peuralinna T, Tienari PJ, Singleton AB. Assessment of PINK1 (PARK6) polymorphisms in Finnish PD. Neurobiol Aging 27: 906-7, 2006 (PubMed ID: 16046032)

Mutations

PINK1: (IVS1-7A>G) (Ala340Thr) (Asn521Thr)

ID: 330

Tan EK, Yew K, Chua E, Puvan K, Shen H, Lee E, Puong KY, Zhao Y, Pavanni R, Wong MC, Jamora D, de Silva D, Moe KT, Woon FP, Yuen Y, Tan L. PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord 21: 789-93, 2006 (PubMed ID: 16482571)

Mutations

PINK1: (Arg246Stop) (Tyr258Stop) (Ala280Thr) (Ala340Thr) (Asn521Thr)

ID: 337

Myhre R, Steinkjer S, Stormyr A, Nilsen GL, Abu Zayyad H, Horany K, Nusier MK, Klungland H. Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism. BMC Neurol 8: , 2008 (PubMed ID: 19087301)

Mutations

PARK2: (ex4del (breakpoints not mapped)) (Val17) (Gln34Arg)
PINK1: (Asp391) (Pro416Arg) (Ser419Pro) (Glu476Lys) (Asn521Thr)

ID: 311

Godeiro-Junior C, de Carvalho-Aguiar PM, Felício AC, Barsottini OG, Silva SM, Borges V, Andrade LA, Ferraz HB. PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients. Mov Disord Epub: , 2009 (PubMed ID: 19562775)

Mutations

PINK1: (IVS1-7A>G) (Val293) (IVS4-5G>A) (Asn410) (Asn521Thr)

ID: 350