Classification of GBA1 Variants in Parkinson's Disease: The GBA1 ‐PD Browser
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Title
Classification of
GBA1
Variants in Parkinson's Disease: The
GBA1
‐PD
Browser
Authors
Keywords
-
Journal
MOVEMENT DISORDERS
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2023-01-04
DOI
10.1002/mds.29314
References
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Note: Only part of the references are listed.- The Mutation Matters: CSF Profiles of GCase , Sphingolipids, α‐Synuclein in PD GBA
- (2021) Stefanie Lerche et al. MOVEMENT DISORDERS
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- A Large‐Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
- (2020) Jonas M. Heijer et al. MOVEMENT DISORDERS
- Evaluating the Role of SNCA , LRRK2 , and GBA in Chinese Patients With Early‐Onset Parkinson's Disease
- (2020) Yongping Chen et al. MOVEMENT DISORDERS
- Penetrance of Glucocerebrosidase ( GBA ) Mutations in Parkinson’s Disease: a Kin Cohort Study
- (2020) Roberta Balestrino et al. MOVEMENT DISORDERS
- The genetic architecture of Parkinson's disease
- (2019) Cornelis Blauwendraat et al. LANCET NEUROLOGY
- Glucocerebrosidase and its relevance to Parkinson disease
- (2019) Jenny Do et al. Molecular Neurodegeneration
- Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?
- (2019) Orly Goldstein et al. MOLECULAR GENETICS AND METABOLISM
- Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease
- (2019) Amokelani C. Mahungu et al. NEUROBIOLOGY OF AGING
- GBA-Associated Parkinson’s Disease and Other Synucleinopathies
- (2018) Ziv Gan-Or et al. Current Neurology and Neuroscience Reports
- Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease
- (2018) Jennifer A. Ruskey et al. European Journal of Medical Genetics
- Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene
- (2018) Avner Thaler et al. PARKINSONISM & RELATED DISORDERS
- Lifetime risk of common neurological diseases in the elderly population
- (2018) Silvan Licher et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations
- (2018) Gilad Yahalom et al. PARKINSONISM & RELATED DISORDERS
- The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal
- (2017) Victoria Berge-Seidl et al. NEUROSCIENCE LETTERS
- Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's
- (2016) Ganqiang Liu et al. ANNALS OF NEUROLOGY
- Survival and dementia inGBA-associated Parkinson's disease: The mutation matters
- (2016) Roberto Cilia et al. ANNALS OF NEUROLOGY
- HGVS Recommendations for the Description of Sequence Variants: 2016 Update
- (2016) Johan T. den Dunnen et al. HUMAN MUTATION
- Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease
- (2016) Bruno A. Benitez et al. Molecular Neurodegeneration
- Variants in GBA , SNCA , and MAPT influence Parkinson disease risk, age at onset, and progression
- (2016) Albert A. Davis et al. NEUROBIOLOGY OF AGING
- Association ofGBAMutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease
- (2016) Marie Y. Davis et al. JAMA Neurology
- Differential effects of severe vs mild GBA mutations on Parkinson disease
- (2015) Z. Gan-Or et al. NEUROLOGY
- Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson’s disease
- (2014) Zhe Yu et al. JOURNAL OF HUMAN GENETICS
- Ensembl 2015
- (2014) Fiona Cunningham et al. NUCLEIC ACIDS RESEARCH
- Glucocerebrosidase mutations in primary parkinsonism
- (2014) Rosanna Asselta et al. PARKINSONISM & RELATED DISORDERS
- Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes
- (2014) Roy N. Alcalay et al. JAMA Neurology
- Association of Common Variants in the Glucocerebrosidase Gene with High Susceptibility to Parkinson's Disease among Chinese
- (2013) Xiong Zhang CHINESE JOURNAL OF PHYSIOLOGY
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- Glucocerebrosidase L444P mutation confers genetic risk for Parkinson’s disease in central China
- (2012) Youpei Wang et al. Behavioral and Brain Functions
- Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling
- (2012) Huma Q. Rana et al. GENETICS IN MEDICINE
- The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease
- (2012) Raquel Duran et al. MOVEMENT DISORDERS
- Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
- (2012) M. Anheim et al. NEUROLOGY
- Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan
- (2011) C.-L. Huang et al. EUROPEAN JOURNAL OF NEUROLOGY
- Type 1 Gaucher Disease
- (2010) Manisha Balwani et al. ARCHIVES OF INTERNAL MEDICINE
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease
- (2009) Jun Mitsui et al. ARCHIVES OF NEUROLOGY
- Incidence and remaining lifetime risk of Parkinson disease in advanced age
- (2009) J. A. Driver et al. NEUROLOGY
- Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa
- (2009) Kenya Nishioka et al. NEUROSCIENCE LETTERS
- Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
- (2009) E. Sidransky et al. NEW ENGLAND JOURNAL OF MEDICINE
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