Associated Papers
Bone involvement in Gaucher disease: Data from a North African registry.
Meddeb Z et al.
Reumatologia Clinica, 2025
Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.
Cullufi P et al.
Journal of Clinical Medicine, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 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
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China.
Maimaititusvn G et al.
Frontiers in Pediatrics, 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
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
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.
Giannini G et al.
Journal of Parkinson's Disease, 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.
Mohamed FE et al.
Frontiers in Pharmacology, 2024
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 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
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F et al.
Diagnostics (basel, Switzerland), 2023
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X et al.
Jama Network Open, 2023
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.
Dubiela P et al.
Biomolecules, 2023
Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report.
Erdal İ et al.
Endocrine, Metabolic & Immune Disorders Drug Targets, 2023
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
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.
Jilani H et al.
Clinical Case Reports, 2022
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.
Kim EN et al.
Clinical and Translational Medicine, 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
Genetic characterization of the Albanian Gaucher disease patient population.
Cullufi P et al.
Jimd Reports, 2021
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
Barney AM et al.
Public Health Genomics, 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
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
Kim YM et al.
Orphanet Journal of Rare Diseases, 2020
Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family.
Cullufi P et al.
Molecular Genetics and Metabolism Reports, 2019
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.
d'Avila Paskulin L et al.
Molecular Genetics and Metabolism Reports, 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
Molecular regulations and therapeutic targets of Gaucher disease.
Chen Y et al.
Cytokine & Growth Factor Reviews, 2018
Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.
Kim YM et al.
Bmc Medical Genetics, 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
Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones.
Baris HN et al.
Blood Cells, Molecules & Diseases, 2016
[Benefits of early enzyme replacement therapy in two children with type 1 Gaucher disease].
Robert A
Presse Medicale (paris, France : 1983), 2009
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Detection of 12 new mutations in Gaucher disease Brazilian patients.
Rozenberg R et al.
Blood Cells, Molecules & Diseases, 0
Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
Choy FY et al.
Blood Cells, Molecules & Diseases, 0