Associated Papers
Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease.
Ding Q et al.
Clinical Chemistry, 2025
Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt.
Youssef MAM et al.
Molecular and Cellular Pediatrics, 2025
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
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.
Cuconato G et al.
Parkinsonism & Related Disorders, 2025
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.
Rossi M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.
Morado Arias M et al.
Diseases (basel, Switzerland), 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
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K et al.
Journal of Human Genetics, 2024
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
Ryan E et al.
American Journal of Medical Genetics. Part A, 2024
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S et al.
Jama Network Open, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.
Panteghini C et al.
Parkinsonism & Related Disorders, 2023
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 2023
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
Pachchek S et al.
Npj Parkinson's Disease, 2023
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
Stanescu S et al.
Biomedicines, 2023
Changing clinical manifestations of Gaucher disease in Taiwan.
Lu WL et al.
Orphanet Journal of Rare Diseases, 2023
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X et al.
Jama Network Open, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population.
Tay YW et al.
Parkinsonism & Related Disorders, 2023
Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.
Parlar SC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients.
Sardarpour N et al.
International Journal of Molecular and Cellular Medicine, 2023
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.
Zizzo C et al.
Biology, 2022
Long-term eliglustat treatment of Gaucher patients over up to 10 years in Vienna.
Stulnig TM
Wiener Klinische Wochenschrift, 2022
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.
Jilani H et al.
Clinical Case Reports, 2022
Mutations in GBA, SNCA, and VPS35 are not associated with Alzheimer's disease in a Chinese population: a case-control study.
Wen YF et al.
Neural Regeneration Research, 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
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Phetthong T et al.
Orphanet Journal of Rare Diseases, 2021
Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.
Jezela-Stanek A et al.
Journal of Clinical Medicine, 2021
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
Generation of integration-free human iPSC line LCPHi001-A from a Parkinson's disease patient carrying the RecNciI mutation in GBA gene.
Lu X et al.
Stem Cell Research, 2021
Resolving misalignment interference for NGS-based clinical diagnostics.
Lee CY et al.
Human Genetics, 2021
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
den Heijer JM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Expanding the clinical utility of glucosylsphingosine for Gaucher disease.
Saville JT et al.
Journal of Inherited Metabolic Disease, 2020
Pulmonary manifestations in young Gaucher disease patients: Phenotype-genotype correlation and radiological findings.
Gawad Tantawy AA et al.
Pediatric Pulmonology, 2020
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
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR et al.
Genetics and Molecular Biology, 2019
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
Kang L et al.
Brain & Development, 2018
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
Clinical and molecular characteristics of patients with Gaucher disease in Southern China.
Feng Y et al.
Blood Cells, Molecules & Diseases, 2018
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia.
Bhutada E et al.
Case Reports in Pathology, 2018
Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.
Drugan C et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2017
Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?
Santos DM et al.
International Journal of Molecular Sciences, 2017
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
Amico G et al.
Molecular Genetics and Metabolism, 2016
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
Crosiers D et al.
Neuroscience Letters, 2016
Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.
Han F et al.
The International Journal of Neuroscience, 2016
Gaucher Disease: Clinical, Biological and Therapeutic Aspects.
Dandana A et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2016
Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.
Yu Z et al.
Journal of Human Genetics, 2015
Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.
Sun Y et al.
Plos One, 2015