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Human Molecular Genetics|March 11, 1999
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's DiseaseN Abbas, C B Lücking, S Ricard, et al.
European Journal of Neurology|August 12, 2018
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in ItalyC Mancini, E Giorgio, A Rubegni, et al.
Science (New York, N.Y.)|March 8, 1996
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansionV Campuzano, L Montermini, M D Moltò, et al.
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