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
Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.
Carubbi F et al.
International Journal of Molecular Sciences, 2026
Multi-cohort, cross-species urinary proteomics reveals signatures of LRRK2 dysfunction in Parkinson's disease.
Vu DT et al.
Molecular Systems Biology, 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
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 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
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution.
Kumar N et al.
Cureus, 2026
Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease.
Ding Q et al.
Clinical Chemistry, 2025
Commentary on Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease.
Rozenberg R
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
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.
Step K et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT-CDG: Expanding the Clinical Spectrum With a Novel Pathogenic Variant.
Ersoy M et al.
Clinical Genetics, 2025
Genetic Modifiers of Parkinson's Disease: A Case-Control Study.
Kmiecik MJ et al.
Annals of Clinical and Translational Neurology, 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
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
Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey.
Manzi P et al.
Jimd Reports, 2025
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific 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