Classification of GBA1 Variants in Parkinson's Disease: The GBA1 ‐PD Browser

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