Familial Parkinson’s disease (PD) with anticipation phenomenon. Undescribed variant in the LRRK2 gene (c.4001G> A (p.Arg1334Gln))
Objective: We describe a family with 4 members affected by PD, carrying a new variant of the LRRK2 gen, with anticipation phenomenon in succeding generation.…Homozygous PRKN exon 3 deletion in an early-onset Parkinson’s disease family from the Kadazan-Dusun ethnic group indigenous to Sabah, Malaysia
Objective: To determine the causal gene for early-onset Parkinson’s disease (PD) in a Malaysian family of Kadazan-Dusun ethnicity. Background: Among Asian populations, relatively little is…Metabolic alterations in a Drosophila model of Parkinson’s disease
Objective: Identification of metabolic alterations that could be contributing to Parkinson’s disease (PD) physiopathology and become new biomarkers or therapeutic targets for the disease. Background:…Wearable sensors are able to identify individuals in the prodromal phase of X-linked Dystonia-Parkinsonism
Objective: To identify subclinical changes of balance and gait in patients with X-linked dystonia-parkinsonism (XDP) and non-manifesting carriers of the XDP-causing mutation. Background: XDP is…Clinical and genetic profile of Familial Parkinson´s disease in Cali – Colombia
Objective: This study aims to describe the genetic and clinical profile of 32 subjects with familial PD using NGS genetic panel and eMotion software system…Profile of non motor symptoms in familial Parkinson’s disease
Objective: Non motor symptoms have a significant contribution to the quality of life of patients with Parkinson’s disease.The aim of the study was to assess the…Cortical Activation during Dynamic Sway of young Fragile X Premutation Carriers
Objective: To investigate changes in cortical activity of fragile X premutation carriers during self-paced sway to the limit of stability. Background: The fragile X premutation…Predictors of quality of life in Machado-Joseph disease: A longitudinal observational study
Objective: Determine the influence of clinical symptoms on QoL in patients with Machado-Joseph disease (MJD). Background: MJD is a rare inherited neurodegenerative disorder. Its phenotypical expression…Movement disorders in a family carrying ATP7A variant
Objective: To report an early onset parkinsonism in a family carrying a pathogenic variant in the ATP7A gene. Background: ATP7A variants cause Menkes disease (MD), a…Epidemiology of Huntington’s Disease (HD) in the US Medicaid Population
Objective: To estimate the current prevalence of Huntington’s disease (HD) among Medicaid beneficiaries in the United States (US). Background: HD is a genetic, progressive, neurodegenerative…
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