Gene-environment interactions for Parkinson’s disease
Objective: The aim of this study was to test for interactions between PD-related genetic and phenotypic traits in the 23andMe, Inc. research cohort. Background: Parkinson’s…Outcomes From Genetic Testing in a UK Movement Disorder Clinic
Objective: The reported yield from next generation sequencing (NGS) in Movement Disorder clinics is 11.3 – 22% [1,2]. We aimed to determine current practice and yield…Movement disorders spectrum in CTNNB1-related neurodevelopmental disorders
Objective: To describe the phenomenology and clinical course of movement disorders in CTNNB1-related neurodevelopmental disorder (CTNNB1-NDD). Background: CTNNB1-NDD is a rare neurogenetic condition caused by…Sensor-based gait analysis in the premotor stage of LRRK2 G2019S-associated Parkinson’s disease
Objective: To evaluate in a group of asymptomatic carriers of the G2019S mutation of the LRRK2 gene if there are subclinical gait alterations, detectable with…All that is gold does not glitter: SPG11 mimicking Westphal variant of Huntington’s disease
Objective: Our objective was to bring light into infrequent causes of gait disorders in children mimicking well-known diseases, specifically with relevant family background. Background: Hereditary…Developing New Insights Into Clinical and Genetic Features of PD – The Global Parkinson’s Genetics Program (GP2) Clinical Cohorts Working Group
Objective: We aim to recruit Parkinson’s cohorts across the world for the Global Parkinson’s Genetics Program (GP2, http://gp2.org/), harmonize clinical data for joint analysis and…A Narrative Review of Literature on Exercise Therapy and Cognitive Impairment in Individuals with Parkinson’s Disease: The Role of Epigenetics as a Mediator.
Objective: This narrative review explored the potential role of exercise as an epigenetic mediator of cognitive function in people with PD and the possible underlying…Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis
Objective: To investigate genotype-phenotype associations in hereditary spastic paraplegia (HSP) with a focus on movement disorders. Background: HSP is a rare genetically-driven disorder associated with…Clinical and genetic research in a large Ukrainian family with autosomal recessive hereditary spastic paraplegia
Objective: To perform a clinical and genetic analysis of a large Ukrainian pedigree emigrated in Italy with autosomal recessive hereditary spastic paraplegia (ARHSP). Background: HSPs…Intrafamilial phenotypic variability of spastic paraplegia type 7: A Case Report
Objective: To characterize the phenotypic variability of spastic paraplegia type 7 in a single family. Background: Spastic paraplegia type 7 (SPG7) is an autosomal recessive…
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