Writing dystonia in children improves after chronic stimulation of globus pallidus internus
Objective: To analyze clinical characteristics of writing dystonia in a pediatric cohort, and test clinical efficacy of globus pallidus internus (GPi) chronic deep brain stimulation…A Homozygous Variant in NAA60 is Associated with Primary Familial Brain Calcification
Objective: To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC).To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC). Background:…Association of Gaucher-related and Parkinson’s-private GBA1 variants with progression of PD: A longitudinal mixed model analysis.
Objective: To compare progression of motor- and non-motor symptoms in people with Parkinson’s disease (PD) with Gaucher-related gene glucocerebrosidase (GBA1) variants compared to people with…Association between Genetic Polymorphisms and Disease Progression in Parkinson’s disease
Objective: In this study, we aim to elucidate the association between the various haplotypes of the Catechol-O-methyltransferase (COMT) and Monoamine oxidase B (MAO-B) genes, the…Strategic Training Framework for Advancing Research Capacity through GP2
Objective: To promote and facilitate learning by providing resources and expertise to address the training needs of the Global Parkinson’s Genetics Program (GP2; www.gp2.org) and…Diagnosing Young-Onset and Familial Parkinson’s Disease Using an Extensive Targeted Panel
Objective: To explore the diagnostic yield of a large PD-targeted panel that contains 85 genes in a Taiwanese cohort of young-onset and familial PD. Background:…Understanding Parkinson’s disease in Spain: genetic and clinical insights
Objective: The aim of this study was to investigate genetic variants associated with Parkinson's disease (PD) in a cohort of PD patients from southern Spain…Novel ASO Targeting IGHMBP2 Cryptic Splice Variant: Efficacy and Safety
Objective: Our objective was to target a specific cryptic splice site variant affecting immunoglobulin mu‐binding protein 2 (IGHMBP2) protein levels with a novel antisense oligonucleotide…Neurodegeneration with brain iron accumulation in pediatric population: Clinico-radiologic and genetic features
Objective: To correlate, clinical and magnetic resonance imaging (MRI) characteristics with genetics, of pediatric patients with Neurodegeneration with brain iron accumulation (NBIA). Background: NBIA is…Spastic Ataxia and Motorneuron disease as possible manifestations of ATP13A2 (PARK 9) variants
Objective: To describe 5 late-onset sporadic cases carrying either biallelic or monoallelic variants in ATP13A2, showing either spastic ataxia(Spatax) or primary lateral sclerosis (PLS) as…
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