Concepedia

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

Marina Siebert, Karina Carvalho Donis, Mariana P. Socal, Carlos Roberto de Mello Rieder, V.E. Emmel, Filippo Pinto e Vairo, Kristiane Michelin‐Tirelli, Marcondes C. França, Anelyssa D’Abreu, Conceição Bettencourt,

Parkinsonism & Related Disorders · 2011 · 20 citations · 24 references

DOI

Concepts

References

24

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

E. Sidransky, Mike A. Nalls, Jan Aasly et al. · New England Journal of Medicine · 2009 · 2.1K citations · Full text

, , +14

Impaired Degradation of Mutant α-Synuclein by Chaperone-Mediated Autophagy

Ana María Cuervo, Leonidas Stefanis, Ross A. Fredenburg et al. · Science · 2004 · 2K citations

, , +17

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Yoshiya Kawaguchi, Toshihiro Okamoto, Masafumi Taniwaki et al. · Nature Genetics · 1994 · 1.8K citations

, , +11

Occurrence of Parkinson's syndrome in type 1 Gaucher disease

Orit Neudorfer, Nir Giladi, Deborah Elstein et al. · QJM · 1996 · 396 citations · Full text

, , +17