Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.
Miryounesi M et al.
Neurogenetics, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
Hassanin E et al.
Npj Parkinson's Disease, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.
Morado Arias M et al.
Diseases (basel, Switzerland), 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 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
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
Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas.
Khowal S et al.
Journal of Neuro-oncology, 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.
Mohamed FE et al.
Frontiers in Pharmacology, 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
Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.
Zhou Y et al.
Npj Parkinson's Disease, 2023
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X et al.
Jama Network Open, 2023
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
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
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
Kang L et al.
Brain & Development, 2018
Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease.
Atashrazm F et al.
Scientific Reports, 2018
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.
Parnetti L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology.
Mucci JM et al.
Blood Cells, Molecules & Diseases, 2015
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
Association of glucocerebrosidase mutations with dementia with lewy bodies.
Clark LN et al.
Archives of Neurology, 2009
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Filocamo M et al.
Human Mutation, 2002
Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
Martínez-Arias R et al.
Human Mutation, 2001
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0