Associated Papers
Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care.
Ain NU et al.
Journal of Inherited Metabolic Disease, 2026
The Global Parkinson's Disease Genetics (GP2) Genome Browser.
Fang ZH et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease.
Ding Q et al.
Clinical Chemistry, 2025
Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.
Kamo H et al.
Movement Disorders Clinical Practice, 2025
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Akçimen F et al.
Brain : a Journal of Neurology, 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
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
Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.
Donald A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.
Powline DG et al.
Cureus, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Communications Biology, 2025
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.
Cuconato G et al.
Parkinsonism & Related Disorders, 2025
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.
Rossi M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.
Morado Arias M et al.
Diseases (basel, Switzerland), 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
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Akçimen F et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson's disease variants.
Rozenberg R et al.
Clinical Parkinsonism & Related Disorders, 2025
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K et al.
Journal of Human Genetics, 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
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
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
Ryan E et al.
American Journal of Medical Genetics. Part A, 2024
Neuronopathic Gaucher disease: Rare in the West, common in the East.
Goker-Alpan O et al.
Journal of Inherited Metabolic Disease, 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
Genetic and phenotypic characterization of Parkinson's disease at the clinic-wide level.
Tropea TF et al.
Npj Parkinson's Disease, 2024
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S et al.
Jama Network Open, 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
The Genetic Drivers of Juvenile, Young, and Early-Onset Parkinson's Disease in India.
Andrews SV et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Clinical prediction of GBA carrier status in Parkinson's disease.
Greenberg J et al.
Clinical Parkinsonism & Related Disorders, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 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
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 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
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Changing clinical manifestations of Gaucher disease in Taiwan.
Lu WL et al.
Orphanet Journal of Rare Diseases, 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