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…Characterization of cerebrospinal fluid profile in hereditary spastic paraparesis 10
Objective: Perform a comprehensive clinical characterization and biochemical cerebrospinal fluid (CSF) profile analyses in two Swedish families with hereditary spastic paraparesis 10 (SPG10) caused by…Case Series of 3 Individuals of African Descent with Dentatorubral-Pallidoluysian Atrophy
Objective: To analyze the demographics, genetic history, co-morbidities, and clinical presentation of three individuals of African descent with Dentatorubral-Pallidoluysian Atrophy (DRPLA). Background: DRPLA is a…Synaptic dysfuncion in a Drosophila model of PARK14
Objective: To investigate the association between lipid metabolism and synaptic function in Parkinson's disease (PD) due to PLA2G6 mutations. Background: The nervous system is enriched…Effectiveness of exome sequencing in Parkinson’s disease of Chinese population
Objective: The aim of this study was to evaluate rare damaging variants in disease-causing gene of Parkinson’s disease (PD) and other movement disorders, and to…Prevalence of Neurodegenerative movement disorders in different clinical Practices of Hyderabad, Pakistan
Objective: The main objective of current study was to determine the rate of prevalence of neurodegenerative movement disorders at different clinical practices in Hyderabad, Pakistan.…A safety, tolerability and biomarker update from an ongoing open-label extension study of RG6042 in adults with early manifest Huntington’s disease
Objective: To present the safety, tolerability and biomarker effects of RG6042 (previously, IONIS-HTTRX) during an open-label extension (OLE) study in adults with early manifest Huntington’s…A hexanucleotide repeat within a SINE-VNTR-Alu retrotransposon inserted in TAF1 modifies expressivity of X-linked dystonia-parkinsonism
Objective: To investigate the role of a hexanucleotide repeat within a SINE-VNTR-Alu (SVA) retrotransposon insertion in the TAF1 gene in modifying expressivity of X-linked dystonia-parkinsonism…
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