Parkinsonism Revealing a Late Form of Niemann-Pick Disease About a Case
Objective: Niemann-Pick type B (NPB) is a rare, autosomal dominant hereditary disorder. Clinical presentation is primarily visceral. Neurological manifestations are rare, unlike in other types…Genetically proven Juvenile-Onset Niemann–Pick Disease Type C Presenting with Dystonia- Ataxia syndrome.
Objective: We present a case Juvenile-Onset Niemann–Pick Disease Type C (NPC) who Presented to us with progressive Dystonia- Ataxia syndrome. Background: Niemann–Pick disease type C…Characterizing Movement Disorders in Niemann-Pick Disease Type C -A Registry-Based Analysis with Findings from the International Niemann-Pick-Disease Registry (INPDR)
Objective: We aim to define the prevalence and phenotypic spectrum of movement disorders in Niemann-Pick Disease Type C (NPC), track motor and functional progression using…Genotype Matters: Vagus Nerve Atrophy in GBA-Associated Parkinson’s Disease
Objective: The aim of this study is to compare the right and left vagus nerve (VN) cross-sectional area (CSA) and autonomic symptoms in patients with…Natural History of Sialidosis Type I: A Prospective Longitudinal Follow-Up Study of Clinical and Electrophysiological Markers
Objective: We performed a prospective analysis to determine the natural history as well as changes of electrophysiological markers in a cohort of Sialidosis type I.…GBA1 L444P mutation increases susceptibility to neuroinflammation and promotes pro-inflammatory immune responses
Objective: To determine whether the GBA1 L444P mutation increases susceptibility to neuroinflammation and alters immune responses during CNS inflammatory challenge. Background: Mutations in GBA1, which…GBA1 deficiency promotes tau and TDP-43 co-pathology
Objective: To determine whether mutations in the gene beta-glucocerebrosidase 1 (GBA1), the strongest genetic risk factor for PD, promote tau and TDP-43 co-pathology alongside Lewy…Analyzing the classification of 767 GBA1 variants to guide GBA1 PD risk prediction
Objective: To assess the consistency of GBA1 variant classification across large Parkinson’s disease (PD) and Gaucher disease (GD) cohorts and determine how variant-specific biochemical data…LRRK2 G2019S Drives Lysosomal Lipid Remodeling and Inflammation in Human iPSC-Derived Microglia
Objective: The aim of this study is to elucidate disease-related metabolic and inflammatory pathways driven by LRRK2 G2019S in human iPSC-derived microglia. Background: Parkinson’s Disease…NPC2 is an Allele-Specific Modifier of GBA1-Associated Parkinson’s Disease Risk
Objective: To identify rare variant modifiers of GBA1-associated Parkinson's disease (PD) penetrance among lysosomal storage disorder (LSD) genes. Background: GBA1 is the most common large-effect…
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