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Results: 1 to 20 of 109

1.

A heterozygous effect for PINK1 mutations in Parkinson's disease?

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.

Ann Neurol. 2006 Oct;60(4):414-9.

PMID:
16969854
[PubMed - indexed for MEDLINE]
2.

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.

Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton AB, Scholz SW.

J Med Genet. 2009 Jun;46(6):375-81. doi: 10.1136/jmg.2008.063917. Epub 2009 Apr 6.

PMID:
19351622
[PubMed - indexed for MEDLINE]
3.

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.

Koziorowski D, Hoffman-Zacharska D, Sławek J, Jamrozik Z, Janik P, Potulska-Chromik A, Roszmann A, Tataj R, Bal J, Friedman A.

Neurol Neurochir Pol. 2013 Jul-Aug;47(4):319-24.

PMID:
23986421
[PubMed - indexed for MEDLINE]
4.

Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease.

Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N.

Arch Neurol. 2008 Jun;65(6):802-8. doi: 10.1001/archneur.65.6.802.

PMID:
18541801
[PubMed - indexed for MEDLINE]
5.

Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?

Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K, Grünewald A, Hilker R, Steinlechner S, Boston H, Kock N, Schneider-Gold C, Kress W, Siebner H, Binkofski F, Lencer R, Münchau A, Klein C.

Arch Neurol. 2006 Jun;63(6):833-8.

PMID:
16769864
[PubMed - indexed for MEDLINE]
6.

Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.

Choi JM, Woo MS, Ma HI, Kang SY, Sung YH, Yong SW, Chung SJ, Kim JS, Shin HW, Lyoo CH, Lee PH, Baik JS, Kim SJ, Park MY, Sohn YH, Kim JH, Kim JW, Lee MS, Lee MC, Kim DH, Kim YJ.

Neurogenetics. 2008 Oct;9(4):263-9. doi: 10.1007/s10048-008-0138-0. Epub 2008 Aug 15.

PMID:
18704525
[PubMed - indexed for MEDLINE]
7.

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP.

Eur J Hum Genet. 2005 Sep;13(9):1086-93.

PMID:
15970950
[PubMed - indexed for MEDLINE]
Free Article
8.

[Molecular genetics of PINK1].

Funayama M, Hattori N.

Brain Nerve. 2007 Aug;59(8):831-8. Review. Japanese.

PMID:
17713119
[PubMed - indexed for MEDLINE]
9.

PINK1 mutations in sporadic early-onset Parkinson's disease.

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.

Mov Disord. 2006 Jun;21(6):789-93.

PMID:
16482571
[PubMed - indexed for MEDLINE]
10.

Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations.

Hagenah JM, Becker B, Brüggemann N, Djarmati A, Lohmann K, Sprenger A, Klein C, Seidel G.

J Neurol Neurosurg Psychiatry. 2008 Sep;79(9):1071-4. doi: 10.1136/jnnp.2007.142174. Epub 2008 May 9.

PMID:
18469032
[PubMed - indexed for MEDLINE]
11.

PINK1 mutation heterozygosity and the risk of Parkinson's disease.

Toft M, Myhre R, Pielsticker L, White LR, Aasly JO, Farrer MJ.

J Neurol Neurosurg Psychiatry. 2007 Jan;78(1):82-4.

PMID:
17172567
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.

Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, Wu YR.

Neurosci Lett. 2006 Feb 6;394(1):33-6. Epub 2005 Oct 27.

PMID:
16257123
[PubMed - indexed for MEDLINE]
13.

Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes.

Moura KC, Junior MC, de Rosso AL, Nicaretta DH, Pereira JS, José Silva D, Santos-Rebouças CB, Pimentel MM.

Dis Markers. 2012;32(3):173-8. doi: 10.3233/DMA-2011-0873.

PMID:
22377733
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

PINK1 protein in normal human brain and Parkinson's disease.

Gandhi S, Muqit MM, Stanyer L, Healy DG, Abou-Sleiman PM, Hargreaves I, Heales S, Ganguly M, Parsons L, Lees AJ, Latchman DS, Holton JL, Wood NW, Revesz T.

Brain. 2006 Jul;129(Pt 7):1720-31. Epub 2006 May 15.

PMID:
16702191
[PubMed - indexed for MEDLINE]
Free Article
15.

G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients.

Deng H, Le WD, Zhang X, Pan TH, Jankovic J.

Acta Neurol Scand. 2005 Jun;111(6):351-2.

PMID:
15876334
[PubMed - indexed for MEDLINE]
16.

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA; Italian Parkinson Genetics Network.

Neurology. 2005 Jul 12;65(1):87-95.

PMID:
16009891
[PubMed - indexed for MEDLINE]
17.

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.

Lesage S, Lohmann E, Tison F, Durif F, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

J Med Genet. 2008 Jan;45(1):43-6. Epub 2007 Aug 31.

PMID:
17766365
[PubMed - indexed for MEDLINE]
18.

Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.

Yonova-Doing E, Atadzhanov M, Quadri M, Kelly P, Shawa N, Musonda ST, Simons EJ, Breedveld GJ, Oostra BA, Bonifati V.

Parkinsonism Relat Disord. 2012 Jun;18(5):567-71. doi: 10.1016/j.parkreldis.2012.02.018. Epub 2012 Mar 24.

PMID:
22445250
[PubMed - indexed for MEDLINE]
19.

Mutation analysis of the parkin and PINK1 genes in American Caucasian early-onset Parkinson disease families.

Deng H, Le W, Shahed J, Xie W, Jankovic J.

Neurosci Lett. 2008 Jan 3;430(1):18-22.

PMID:
18068301
[PubMed - indexed for MEDLINE]
20.

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

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.

Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20719.

PMID:
18330912
[PubMed - indexed for MEDLINE]

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