A Novel SLC9A1 Mutation Associated with Cerebellar Ataxia and Sensorineural Hearing Loss
Objective: To report a novel genetic mutation in the SLC9A1 gene presenting with childhood onset ataxia and sensorineural hearing loss. Background: Lichtenstein-Knorr syndrome is a…Candidate biomarkers of EV-microRNA in detecting REM sleep behavior disorder and Parkinson’s disease
Objective: Accessible and reliable biomarkers for early diagnosis of PD and iRBD are urgently needed to identify candidate therapeutic targets and to monitor disease progression…LRRK2 and GBA Founder Mutations and their Interactions in Parkinson’s Disease
Objective: To evaluate the symptoms of Parkinson’s disease (PD) and time to diagnosis in single and dual carriers of LRRK2 G2019S and GBA N370S. Background:…Parkinson’s Families Project: A UK-Wide Study of Early Onset and Familial Parkinson’s Disease
Objective: The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson's disease (PD). Background: Rare variants…Artificial intelligence: a potential predictor of GBA1-mutated genotype in Parkinson’s Disease patients?
Objective: To assess whether artificial intelligence could predict GBA1-mutated genotype in Parkinson’s Disease (GBA1-PD) patients according to the different impact of significant clinical features. Background:…the role of metabotropic glutamate receptors type 3 and 5 in parkinson’s disease: analysis of grm3 and grm5 genbe variants.
Objective: The aim of the study was to examine the association between polymorphic variants of GRM3 and GRM5 and Parkinson’s disease (PD) and motor and…Adding Parkinsonism to the Phenotypic Spectrum of FIG4-related diseases
Objective: To describe a phenotypic variant of FIG4-related diseases resulting in parkinsonism. Background: The FIG4 gene codes for P1(3,5)P2 phosphatase that plays an important role…Autosomal Recessive Spastic Ataxia Secondary a Novel SPG7 Gene Pathogenic Variant: a Case Report
Objective: The primary aim of this investigation is to describe a newly identified pathogenic variant within the SPG7 gene observed in a clinical presentation of…Startle Reflex in CTNNB1 Mutations: A diagnostic Clue
Objective: To describe two patients with CTNNB1 mutation with a startle reflex, an underrecognised clinical sign. Background: CTNNB1 mutations is an increasingly recognised cause of…Optogenetic Deep Brain Stimulation Rescues Motor Behavior in a Rat Model of Mild Parkinson’s Disease
Objective: To demonstrate feasibility and proof-of-concept for a bilateral rat model of Parkinson’s disease (PD) undergoing deep brain stimulation (DBS) of the subthalamic nucleus (STN)…
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