Associated Papers
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease.
Fang Z et al.
Frontiers in Neuroscience, 2026
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
Serrano-Gonzalo I et al.
International Journal of Molecular Sciences, 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
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
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K et al.
Molecular Genetics & Genomic Medicine, 2024
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
Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.
Do MD et al.
Brain and Behavior, 2023
a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy.
Moraitou M et al.
Plos One, 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
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.
Kılavuz S et al.
Metabolic Brain Disease, 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
Genetic characterization of the Albanian Gaucher disease patient population.
Cullufi P et al.
Jimd Reports, 2021
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Dimitriou E et al.
Molecular Genetics and Metabolism Reports, 2020
Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
Lepe-Balsalobre E et al.
Clinical Chemistry and Laboratory Medicine, 2020
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
Mattošová S et al.
The Israel Medical Association Journal : Imaj, 2015
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
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
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
Gupta N et al.
Blood Cells, Molecules & Diseases, 2011
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
Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.
Haverkaemper S et al.
Neonatology, 2011
A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene.
Akdag A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
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
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
Emre S et al.
European Journal of Medical Genetics, 0
β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.
Moraitou M et al.
Molecular Genetics and Metabolism, 0
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B et al.
Molecular Genetics and Metabolism, 0