Associated Papers
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Perinatal-Onset Neuronopathic Gaucher Disease Is Refractory to High-Dose Ambroxol: A Case Report and Literature Review.
Fujikawa R et al.
Neonatology, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Omar A et al.
The Malaysian Journal of Pathology, 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
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation.
Donald A et al.
Molecular Genetics and Metabolism, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 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
Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.
Goker-Alpan O et al.
Frontiers in Pediatrics, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M 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
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
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Vernet Machado Bressan Wilke M et al.
International Journal of Molecular Sciences, 2024
Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.
Kamath SD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
GBA1 Variants and Parkinson's Disease: Paving the Way for Targeted Therapy.
Huh YE et al.
Journal of Movement Disorders, 2023
Ichthyosis, petechiae, and arthrogryposis in a neonate.
Haller CN et al.
Pediatric Dermatology, 2023
Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation.
Minić S et al.
Diagnostics (basel, Switzerland), 2022
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.
Toffoli M et al.
Communications Biology, 2022
Newborn screening for Gaucher disease in Japan.
Sawada T et al.
Molecular Genetics and Metabolism Reports, 2022
Gaucher disease carrier with gestational thrombocytopenia and anemia: a case report.
Sugiura T et al.
Journal of Medical Case Reports, 2022
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.
Lim JL et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2022
An infant with type II Gaucher disease treated with enzyme replacement therapy.
Ebihara G et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
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
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: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Dimitriou E et al.
Molecular Genetics and Metabolism Reports, 2020
Decreased Penetrance of Parkinson's Disease in Elderly Carriers of Glucocerebrosidase Gene L444P/R Mutations: A Community-Based 10-Year Longitudinal Study.
Ji S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.
Riboldi GM et al.
Cells, 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
Norrbottnian clinical variant of Gaucher disease in Southern Italy.
Sestito S et al.
Journal of Human Genetics, 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
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
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0