Associated Papers
Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.
Donald A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.
Powline DG et al.
Cureus, 2025
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Communications Biology, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
Ryan E et al.
American Journal of Medical Genetics. Part A, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Elstein D et al.
Journal of Clinical Medicine, 2024
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
Sako S et al.
Human Genome Variation, 2024
Genetic and phenotypic characterization of Parkinson's disease at the clinic-wide level.
Tropea TF et al.
Npj Parkinson's Disease, 2024
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant.
Zhang Z et al.
The American Journal of Case Reports, 2024
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 2023
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X et al.
Jama Network Open, 2023
Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand.
Thanprasertsuk S et al.
Plos One, 2023
Cognition as a mediator for gait and balance impairments in GBA-related Parkinson's disease.
Morris R et al.
Npj Parkinson's Disease, 2022
GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10-Year Population-Based Study.
Szwedo AA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ et al.
Molecular Genetics and Metabolism, 2022
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Dinur T et al.
International Journal of Molecular Sciences, 2022
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study.
Reynolds TM et al.
International Journal of Clinical Practice, 2021
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
Barney AM et al.
Public Health Genomics, 2021
Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.
Donald A et al.
Orphanet Journal of Rare Diseases, 2020
GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.
Riboldi GM et al.
Cells, 2019
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.
Leija-Salazar M et al.
Molecular Genetics & Genomic Medicine, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
Sheth J et al.
Bmc Medical Genetics, 2019
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report.
Hosoba S et al.
Medicine, 2018
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.
Ortiz-Cabrera NV et al.
Molecular Genetics and Metabolism Reports, 2016
Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
Torralba MA et al.
Qjm : Monthly Journal of the Association of Physicians, 2016
Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.
Abdelwahab M et al.
Neurology. Genetics, 2016
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Ankleshwaria C et al.
Journal of Human Genetics, 2014
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.
Murphy KE et al.
Brain : a Journal of Neurology, 2014
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Yildiz Y et al.
Orphanet Journal of Rare Diseases, 2013
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
Rolfs A et al.
Plos One, 2013
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Lesage S et al.
Human Molecular Genetics, 2011
Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk.
Sekijima Y et al.
Clinical Therapeutics, 2010