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)…Transcranial Direct Current Stimulation for Freezing of Gait in Parkinson’s Disease
Objective: To investigate the impact of anodal transcranial direct current stimulation (tDCS) on freezing of gait (FOG) among individuals diagnosed with Parkinson’s disease (PD). Background:…Vestibulo-ocular reflex and cognitive dysfunction in denovo Parkinson’s disease
Objective: To investigate the relationship between cognitive function and vestibulo-ocular reflex (VOR) gain in denovo Parkinson’s disease (PD). Background: Saccades are rapid eye movements necessary…
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