Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa-Reference-Cited by-同舟云学术

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Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa

Published:2006-01-09 Issue:3 Volume:129 Page:686-694
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Ibáñez Pablo,Lesage Suzanne,Lohmann Ebba,Thobois Stéphane,Michele Giuseppe De,Borg Michel,Agid Yves,Dürr Alexandra,Brice Alexis

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/129/3/686/1102988/awl005.pdf

Reference31 articles.

1. Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol2003; 54: 283–6.

2. Albanese A, Valente EM, Romito LM, Bellacchio E, Elia AE, Dallapiccola B. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology2005; 64: 1958–60.

3. Beilina A, Van Der Brug M, Ahmad R, Kesavapany S, Miller DW, Petsko GA, et al. Mutations in PTEN-induced putative kinase 1 associated with recessive Parkinsonism have differential effects on protein stability. Proc Natl Acad Sci USA2005; 102: 5703–8.

4. Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism. Science2003; 299: 256–9.

5. Bonifati V, Rohe CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, et al. Early-onset Parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology2005; 65: 87–95.

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4. A Novel PINK1 p.F385S Loss‐of‐Function Mutation in an Indian Family with Parkinson's Disease;Movement Disorders;2024-04-08

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