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Cornelis Blauwendraat et al.
BRAIN (2020)
Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations A Nonrandomized, Noncontrolled Trial
Stephen Mullin et al.
JAMA NEUROLOGY (2020)
Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial
C. R. A. Silveira et al.
BMC NEUROLOGY (2019)
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms
Cornelis Blauwendraat et al.
MOVEMENT DISORDERS (2019)
Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts
Hirotaka Iwaki et al.
MOVEMENT DISORDERS (2019)
Classification of GBA Variants and Their Effects in Synucleinopathies
Ziv Gan-Or et al.
MOVEMENT DISORDERS (2019)
Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts (vol 5, e348, 2019)
H. Iwaki et al.
NEUROLOGY-GENETICS (2019)
Insular Celtic population structure and genomic footprints of migration
Ross P. Byrne et al.
PLOS GENETICS (2018)
GBA mutations in Parkinson disease: earlier death but similar neuropathological features
C. H. Adler et al.
EUROPEAN JOURNAL OF NEUROLOGY (2017)
GBA Analysis in Next-Generation Era Pitfalls, Challenges, and Possible Solutions
Stefania Zampieri et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2017)
Glucocerebrosidase Mutations in Parkinson Disease
Grace O'Regan et al.
JOURNAL OF PARKINSONS DISEASE (2017)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Genome-wide assessment of Parkinson's disease in a Southern Spanish population
Sara Bandres-Ciga et al.
NEUROBIOLOGY OF AGING (2016)
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort
David Crosiers et al.
NEUROSCIENCE LETTERS (2016)
Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease
Marie Y. Davis et al.
JAMA NEUROLOGY (2016)
A Personalized Approach to Parkinson's Disease Patients Based on Founder Mutation Analysis
Nir Giladi et al.
FRONTIERS IN NEUROLOGY (2016)
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations
Roy N. Alcalay et al.
BRAIN (2015)
Glucocerebrosidase and Parkinson disease: Recent advances
Anthony H. V. Schapira
MOLECULAR AND CELLULAR NEUROSCIENCE (2015)
Differential effects of severe vs mild GBA mutations on Parkinson disease
Ziv Gan-Or et al.
NEUROLOGY (2015)
Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation-Positive Cohort
Michelle Beavan et al.
JAMA NEUROLOGY (2015)
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
Mike A. Nalls et al.
NATURE GENETICS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Glucocerebrosidase Gene Mutations Associated with Parkinson's Disease: A Meta-Analysis in a Chinese population
Jia Chen et al.
PLOS ONE (2014)
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Kevin P. Kenna et al.
JOURNAL OF MEDICAL GENETICS (2013)
A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide
Omid Motabar et al.
ANALYTICAL AND BIOANALYTICAL CHEMISTRY (2012)
The link between the GBA gene and parkinsonism
Ellen Sidransky et al.
LANCET NEUROLOGY (2012)
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course
Nuria Seto-Salvia et al.
MOVEMENT DISORDERS (2012)
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
Suzanne Lesage et al.
HUMAN MOLECULAR GENETICS (2011)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
Jose Bras et al.
NEUROBIOLOGY OF AGING (2009)
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece
Kallirhoe Kalinderi et al.
NEUROSCIENCE LETTERS (2009)
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
Z. Gan-Or et al.
NEUROLOGY (2008)
Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD
D Gosal et al.
PARKINSONISM & RELATED DISORDERS (2005)