Associated Papers
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
Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials.
Menozzi E et al.
Npj Parkinson's Disease, 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
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Communications Biology, 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
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
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E et al.
International Journal of Molecular Sciences, 2024
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.
Ceni C et al.
Molecules (basel, Switzerland), 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
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
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
Gabbert C et al.
Bmc Genomics, 2023
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
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.
Hassan S et al.
Molecular Genetics and Metabolism, 2018
Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.
Nascimbeni F et al.
Molecular Genetics and Metabolism, 2018
High-risk screening for Gaucher disease in patients with neurological symptoms.
Momosaki K et al.
Journal of Human Genetics, 2018
Molecular regulations and therapeutic targets of Gaucher disease.
Chen Y et al.
Cytokine & Growth Factor Reviews, 2018
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
Functional analysis of 11 novel GBA alleles.
Malini E et al.
European Journal of Human Genetics : Ejhg, 2014
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
Siebert M et al.
Jimd Reports, 2013
Gaucher disease paradigm: from ERAD to comorbidity.
Bendikov-Bar I et al.
Human Mutation, 2012
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
Perinatal lethal Gaucher disease.
Plakkal N et al.
Indian Journal of Pediatrics, 2011
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Neumann J et al.
Brain : a Journal of Neurology, 2009
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.
Dominissini S et al.
Human Mutation, 2006
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Filocamo M et al.
Human Mutation, 2002
Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.
Park JK et al.
American Journal of Medical Genetics, 2001
Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.
Tayebi N et al.
Human Genetics, 2000
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Koprivica V et al.
American Journal of Human Genetics, 2000
Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
Lau EK et al.
Human Genetics, 1999
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.
Goebl A et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate.
Schüller S et al.
Pediatric Hematology and Oncology, 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