Associated Papers
Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease Patients.
Di Rauso G et al.
Movement Disorders Clinical Practice, 2026
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.
Beauregard-Lacroix É et al.
Molecular Genetics and Metabolism Reports, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.
Camou F et al.
Orphanet Journal of Rare Diseases, 2025
Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt.
Youssef MAM et al.
Molecular and Cellular Pediatrics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 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
Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.
Çalışkan AR et al.
Journal of Personalized Medicine, 2025
Current opinion on pluripotent stem cell technology in Gaucher's disease: challenges and future prospects.
Gurra P et al.
Cytotechnology, 2025
Preimplantation Genetic Testing (PGT) to Reduce the Risk for GBA-Related Parkinson's Disease: Expanding the Applications for Embryo Selection.
Zuckerman S et al.
International Journal of Molecular Sciences, 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
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
P2RX7, an adaptive immune response gene, is associated with Parkinson's disease risk and age at onset.
Shani S et al.
Journal of Parkinson's Disease, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.
Dos Santos JCC et al.
Molecular Neurobiology, 2024
Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.
Onal G et al.
Journal of Neurochemistry, 2024
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
Ryan E et al.
American Journal of Medical Genetics. Part A, 2024
Gaucher disease provides a unique window into Parkinson disease pathogenesis.
Hertz E et al.
Nature Reviews. Neurology, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 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
A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment.
Zhong W et al.
Acta Neurologica Belgica, 2024
Fragment-Based Discovery of a Series of Allosteric-Binding Site Modulators of β-Glucocerebrosidase.
Palmer N et al.
Journal of Medicinal Chemistry, 2024
Neurological symptoms in adults with Gaucher disease: a systematic review.
Imbalzano G et al.
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
Neither alpha-synuclein fibril strain nor host murine genotype influences seeding efficacy.
Walton S et al.
Npj Parkinson's Disease, 2024
Inhibition of cysteine protease cathepsin L increases the level and activity of lysosomal glucocerebrosidase.
Kim MJ et al.
Jci Insight, 2024
[Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].
Zhang TB et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
MAPT Locus in Parkinson's Disease Patients of Ashkenazi Origin: A Stratified Analysis.
Shani S et al.
Genes, 2023
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Changing clinical manifestations of Gaucher disease in Taiwan.
Lu WL et al.
Orphanet Journal of Rare Diseases, 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
Neither alpha-synuclein-preformed fibrils derived from patients with GBA1 mutations nor the host murine genotype significantly influence seeding efficacy in the mouse olfactory bulb.
Walton S et al.
Biorxiv : the Preprint Server for Biology, 2023
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Gleason AM et al.
American Journal of Medical Genetics. Part A, 2023
Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers.
Shani S et al.
Parkinsonism & Related Disorders, 2023
Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma.
Bossù G et al.
Children (basel, Switzerland), 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