Associated Papers
APOE, Aβ42, and tau differentially impact cognitive decline in Sporadic, GBA1 and LRRK2 Parkinson's disease.
Botta R et al.
Npj Parkinson's Disease, 2026
Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
Serum phosphorylated tau 217 in GBA1 variant carriers with and without Parkinson disease.
Menozzi E et al.
Journal of Parkinson's Disease, 2026
Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers.
Agin-Liebes J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
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
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.
Malik M et al.
Npj Parkinson's Disease, 2026
Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort study.
Mutlu U et al.
Orphanet Journal of Rare Diseases, 2026
Generation and characterization of 5 induced pluripotent stem cell (iPSC) lines from Parkinson's disease patients carrying GBA1 variants.
Yoldi Bergua I et al.
Stem Cell Research, 2026
Clinical Utility of GBA Genotyping Prior to Deep Brain Stimulation: A Narrative Review.
Rački V et al.
Genes, 2026
The Influence of Genetics in the Early Development of Axial Postural Abnormalities in Parkinson's Disease.
Vico IAD et al.
Movement Disorders Clinical Practice, 2026
Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution.
Kumar N et al.
Cureus, 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
The Race to Salvage Glucocerebrosidase: Understanding Small-Molecule Therapies for GBA1-Associated Parkinsonism.
Henderson MJ et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
Plasma Levels of Food-Derived Metabolites as Biomarkers of Parkinson's Disease.
Dong X et al.
International Journal of Molecular Sciences, 2025
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Underlying Mechanisms of GBA1 in Parkinson's Disease and Dementia with Lewy Bodies: Narrative Review.
Bougea A
Genes, 2025
WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.
Kafantari E et al.
Genes, 2025
Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies.
Fattahi N et al.
International Journal of Molecular Sciences, 2025
Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.
Akçimen F et al.
Brain : a Journal of Neurology, 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
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
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease.
Cheung C et al.
Molecular Genetics and Metabolism, 2025
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
The role of mitochondrial genetics in Parkinson's disease: Long-read sequencing as an emerging method.
Tran NLK et al.
Med (new York, N.y.), 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
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
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.
Miryounesi M et al.
Neurogenetics, 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
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
Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.
Cullufi P et al.
Journal of Clinical Medicine, 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
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
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
Pascual A et al.
International Journal of Molecular Sciences, 2025
Synaptic vesicle endocytosis deficits underlie cognitive dysfunction in mouse models of GBA-linked Parkinson's disease and dementia with Lewy bodies.
Vidyadhara DJ et al.
Nature Communications, 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
Restoration of Lysosomal Hydrolase Activities by LRRK2 Inhibition in GBA1- and LRRK2-Associated Parkinson's Disease Patient-Derived Cells.
Usenko TS et al.
Journal of Neurochemistry, 2025
Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.
Powline DG et al.
Cureus, 2025
Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.
Akçimen F et al.
Medrxiv : the Preprint Server for Health Sciences, 2025