Associated Papers
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.pdf
Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.
Böttcher T et al.
Journal of Neurology, 2013
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
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.
Atrian S et al.
Proteins, 2008
Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.
Park JK et al.
American Journal of Medical Genetics, 2001
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Stone DL et al.
Human Mutation, 2000
Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient.
Choy FY et al.
American Journal of Medical Genetics, 1998
Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
Choy FY et al.
American Journal of Medical Genetics, 1997
Mutation screening of 17 Japanese patients with neuropathic Gaucher disease.
Ida H et al.
Human Genetics, 1996
Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.
Choy FY et al.
Human Mutation, 1995
[Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
Horovenko NH et al.
Tsitologiia I Genetika, 0
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