Associated Papers
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Benitez BA et al.
Molecular Neurodegeneration, 2016
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
Rolfs A et al.
Plos One, 2013
24278166 (PubMed )
Supplement: pone.0079732.s001.pdf
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Filocamo M et al.
Human Mutation, 2002
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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