GBA variants carriers are at increased risk of Parkinson’s disease (PD) and Lewy body dementia (LBD). The presence of pseudogene GBAP1 predisposes to structural variants, complicating genetic analysis. We present two methods to resolve recombinant alleles and other variants in GBA: Gauchian, a tool for short-read, whole-genome sequencing data analysis, and Oxford Nanopore sequencing after PCR enrichment. Both methods were concordant for 42 samples carrying a range of recombinants and GBAP1-related mutations, and Gauchian outperformed the GATK Best Practices pipeline. Applying Gauchian to sequencing of over 10,000 individuals shows that copy number variants (CNVs) spanning GBAP1 are relatively common in Africans. CNV frequencies in PD and LB...
© 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC. on behalf of Internationa...
Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most commo...
International audienceObjective : Glucocerebrosidase gene (GBA) variants that cause Gaucher disease ...
GBA variants carriers are at increased risk of Parkinson's disease (PD) and Lewy body dementia (LBD)...
GBA variants carriers are at increased risk of Parkinson's disease (PD) and Lewy body dementia (LBD)...
peer reviewedHeterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognize...
Heterozygous variants in the glucocerebrosidase GBA gene are an increasingly recognized risk factor ...
Abstract Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognized ri...
BACKGROUND: Mutations in GBA cause Gaucher disease when biallelic and are strong risk factors for Pa...
Since its first description in the XIV century, the understanding of Parkinson disease (PD) has adv...
Parkinson’s disease (PD) and Lewy Body Dementias (LBD) are two distinct synucleinopathies with a gre...
Biallelic mutations in the Glucocerebrosidase gene (GBA) cause autosomal recessive Gaucher Disease. ...
We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (...
Background: The most common genetic risk factor for Parkinson’s disease known is a damaging varian...
Background: Alterations in the GBA gene (NM_000157.3) are the most important genetic risk factor for...
© 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC. on behalf of Internationa...
Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most commo...
International audienceObjective : Glucocerebrosidase gene (GBA) variants that cause Gaucher disease ...
GBA variants carriers are at increased risk of Parkinson's disease (PD) and Lewy body dementia (LBD)...
GBA variants carriers are at increased risk of Parkinson's disease (PD) and Lewy body dementia (LBD)...
peer reviewedHeterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognize...
Heterozygous variants in the glucocerebrosidase GBA gene are an increasingly recognized risk factor ...
Abstract Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognized ri...
BACKGROUND: Mutations in GBA cause Gaucher disease when biallelic and are strong risk factors for Pa...
Since its first description in the XIV century, the understanding of Parkinson disease (PD) has adv...
Parkinson’s disease (PD) and Lewy Body Dementias (LBD) are two distinct synucleinopathies with a gre...
Biallelic mutations in the Glucocerebrosidase gene (GBA) cause autosomal recessive Gaucher Disease. ...
We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (...
Background: The most common genetic risk factor for Parkinson’s disease known is a damaging varian...
Background: Alterations in the GBA gene (NM_000157.3) are the most important genetic risk factor for...
© 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC. on behalf of Internationa...
Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most commo...
International audienceObjective : Glucocerebrosidase gene (GBA) variants that cause Gaucher disease ...