Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation-Reference-Cited by-同舟云学术

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Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation

Published:2008-02-21 Issue:5 Volume:255 Page:643-648
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Prestel J.,Gempel K.,Hauser T. K.,Schweitzer K.,Prokisch H.,Ahting U.,Freudenstein D.,Bueltmann E.,Naegele T.,Berg D.,Klopstock T.,Gasser T.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-008-0763-4.pdf

Reference29 articles.

1. Valente EM, Abou-Sleiman PM, Caputo V, et al. (2004) Hereditary early-onset Parkinson’s Disease caused by mutations in PINK1. Science 304:1158–1160

2. Hatano Y, Li Y, Sato K, et al. (2004) Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56:424–427

3. Rogaeva E, Johnson J, Lang AE, et al. (2004) Analysis of the PINK1 gene in a large cohort of cases with Parkinson Disease. Arch Neurol 61:1898–1904

4. Ibáñez P, Lesage S, Lohmann E, et al. (2006) Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain 129:686–694

5. Hedrich K, Hagenah J, Djarmati A, et al. (2006) Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? Arch Neurol 63:833–838

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