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Ida Berglin Enquist et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Three classes of gluclocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease
Wei Zheng et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Gender differences in Parkinson's disease
Charlotte A. Haaxma et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2007)
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease
Chiara Balducci et al.
MOVEMENT DISORDERS (2007)
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients
Eng-King Tan et al.
ARCHIVES OF NEUROLOGY (2007)
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain
Pilar Alfonso et al.
JOURNAL OF HUMAN GENETICS (2007)
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
O. Goker-Alpan et al.
NEUROLOGY (2006)
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Matt Baker et al.
NATURE (2006)
Mutation analysis of Gaucher disease patients in Taiwan:: High prevalence of the RecNciI and L444P mutations
Lei Wan et al.
BLOOD CELLS MOLECULES AND DISEASES (2006)
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
I Ron et al.
HUMAN MOLECULAR GENETICS (2005)
Divergent phenotypes in Gaucher disease implicate the role of modifiers
O Goker-Alpan et al.
JOURNAL OF MEDICAL GENETICS (2005)
Aberrant phosphorylation of α-synuclein in human Niemann-Pick type C1 disease
Y Saito et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2004)
Gaucher disease: complexity in a simple disorder
E Sidransky
MOLECULAR GENETICS AND METABOLISM (2004)
Impaired degradation of mutant α-synuclein by chaperone-mediated autophagy
AM Cuervo et al.
SCIENCE (2004)
Lipid rafts mediate the synaptic localization of α-synuclein
DL Fortin et al.
JOURNAL OF NEUROSCIENCE (2004)
Parkinsonism among Gaucher disease carriers
O Goker-Alpan et al.
JOURNAL OF MEDICAL GENETICS (2004)
Gaucher's disease with Parkinson's disease - Clinical and pathological aspects
B Bembi et al.
NEUROLOGY (2003)
X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease
H Dvir et al.
EMBO REPORTS (2003)
Formation and removal of α-synuclein aggregates in cells exposed to mitochondrial inhibitors
HJ Lee et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Gaucher disease and parkinsonism: A phenotypic and genotypic characterization
N Tayebi et al.
MOLECULAR GENETICS AND METABOLISM (2001)
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
V Koprivica et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Type 2 Gaucher disease: the collodion baby phenotype revisited
DL Stone et al.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION (2000)