Associated Papers
Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.
Cullufi P et al.
The American Journal of Case Reports, 2026
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease.
Gragnaniello V et al.
American Journal of Medical Genetics. Part A, 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
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease.
Gagliardi M et al.
Parkinsonism & Related Disorders, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors.
Maines E et al.
Metabolites, 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
Challenges in Gaucher disease: Perspectives from an expert panel.
Grabowski GA et al.
Molecular Genetics and Metabolism, 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
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2025
Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease.
Gragnaniello V et al.
Frontiers in Pediatrics, 2025
GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.
Tonin R et al.
Clinical Parkinsonism & Related Disorders, 2025
Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases.
Aries C et al.
Frontiers in Neurology, 2025
A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.
Koros C et al.
Genes, 2024
Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.
Vieira SRL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Expanding the Spectrum of GBA1-Associated Neurodegenerative Diseases in an Italian Family.
Sorrentino C et al.
Movement Disorders Clinical Practice, 2024
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E et al.
International Journal of Molecular Sciences, 2024
GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.
Szlepák T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Genetic and phenotypic characterization of Parkinson's disease at the clinic-wide level.
Tropea TF et al.
Npj Parkinson's Disease, 2024
Longitudinal cognitive decline characterizes the profile of non-PD-manifest GBA1 mutation carriers.
Roeben B et al.
Npj Parkinson's Disease, 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
Clinical prediction of GBA carrier status in Parkinson's disease.
Greenberg J et al.
Clinical Parkinsonism & Related Disorders, 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
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
Long-term follow-up of a patient with neonatal form of Gaucher disease.
Gragnaniello V et al.
American Journal of Medical Genetics. Part A, 2023
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
Gabbert C et al.
Bmc Genomics, 2023
GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.
Granek Z et al.
International Journal of Molecular Sciences, 2023
Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.
Ridova N et al.
Molecular Genetics and Metabolism Reports, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Long-term eliglustat treatment of Gaucher patients over up to 10 years in Vienna.
Stulnig TM
Wiener Klinische Wochenschrift, 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
Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.
Ramadža DP et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
Daykin EC et al.
Molecular Genetics and Metabolism, 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
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
den Heijer JM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots.
Cozma C et al.
International Journal of Molecular Sciences, 2020
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
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
The Spectrum of Neurological Manifestations Associated with Gaucher Disease.
Roshan Lal T et al.
Diseases (basel, Switzerland), 2017
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Benitez BA et al.
Molecular Neurodegeneration, 2016
Neonatal Jaundice with Splenomegaly: Not a Common Pick.
Gotti G et al.
Fetal and Pediatric Pathology, 2016
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Santamaria R et al.
Human Mutation, 2008