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Karin D. van Dijk et al.
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Georgia Dermentzaki et al.
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Matthew E. Gegg et al.
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Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
M. Anheim et al.
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M. Siebert et al.
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Joseph R. Mazzulli et al.
CELL (2011)
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Suzanne Lesage et al.
HUMAN MOLECULAR GENETICS (2011)
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L. Parnetti
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α-Synuclein and tau concentrations in cerebrospinal fluid of patients presenting with parkinsonism: a cohort study (vol 10, pg 230, 2011)
B. Mollenhauer et al.
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Cerebrospinal Fluid Tau/α-Synuclein Ratio in Parkinson's Disease and Degenerative Dementias
Lucilla Parnetti et al.
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DETECTION OF ELEVATED LEVELS OF α-SYNUCLEIN OLIGOMERS IN CSF FROM PATIENTS WITH PARKINSON DISEASE
Kim A. Bruggink et al.
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In vivo demonstration that α-synuclein oligomers are toxic
Beate Winner et al.
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α-Synuclein and tau concentrations in cerebrospinal fluid of patients presenting with parkinsonism: a cohort study
Brit Mollenhauer et al.
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DJ-1 and α-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's disease
Zhen Hong et al.
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Altered Ion Channel Formation by the Parkinson's-Disease-Linked E46K Mutant of α-Synuclein Is Corrected by GM3 but Not by GM1 Gangliosides
Eric Di Pasquale et al.
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Qi-Ying Sun et al.
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Detection of elevated levels of α-synuclein oligomers in CSF from patients with Parkinson disease
T. Tokuda et al.
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Damla Pinar Karpinar et al.
EMBO JOURNAL (2009)
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies
L. Parnetti et al.
NEUROBIOLOGY OF DISEASE (2009)
A consensus protocol for the standardization of cerebrospinal fluid collection and biobanking
C. E. Teunissen et al.
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Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece
Kallirhoe Kalinderi et al.
NEUROSCIENCE LETTERS (2009)
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
E. Sidransky et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease
Tianhong Pan et al.
BRAIN (2008)
Direct quantification of CSF α-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration
Brit Mollenhauer et al.
EXPERIMENTAL NEUROLOGY (2008)
Wild type α-synuclein is degraded by chaperone-mediated autophagy and macroautophagy in neuronal cells
Tereza Vogiatzi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Lysosomal storage disease 1 - Phenotype, diagnosis, and treatment of Gaucher's disease
Gregory A. Grabowski
LANCET (2008)
Neuronal and glial accumulation of α- and β-synucleins in human lipidoses
Kyoko Suzuki et al.
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Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
L. N. Clark et al.
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Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease
Chiara Balducci et al.
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Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
Shira G. Ziegler et al.
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Decreased α-synuclein in cerebrospinal fluid of aged individuals and subjects with Parkinson's disease
Takahiko Tokuda et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
Dystonia and parkinsonism in GM1 type 3 gangliosidosis
E Roze et al.
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Clearance of α-synuclein oligomeric intermediates via the lysosomal degradation pathway
HJ Lee et al.
JOURNAL OF NEUROSCIENCE (2004)
Impaired degradation of mutant α-synuclein by chaperone-mediated autophagy
AM Cuervo et al.
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Glucocerebrosidase mutations in subjects with parkinsonism
A Lwin et al.
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α-synuclein is degraded by both autophagy and the proteasome
JL Webb et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
The diagnostic odds ratio: a single indicator of test performance
AS Glas et al.
JOURNAL OF CLINICAL EPIDEMIOLOGY (2003)
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)
Acceleration of oligomerization, not fibrillization, is a shared property of both α-synuclein mutations linked to early-onset Parkinson's disease:: Implications for pathogenesis and therapy
KA Conway et al.
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