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…Cockayne Syndrome manifesting as late adult onset cerebellar ataxia: expanding the phenotype
Objective: To report an atypical case of Cockayne Syndrome manifesting as pure adult onset cerebellar ataxia. Background: Cockayne Syndrome (CS) is a rare autosomal recessive…Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): A Paradigm of Childhood-Onset Hereditary Spastic Paraplegia Caused By Defective Protein Trafficking
Objective: Aims of this study include: 1) to generate induced pluripotent stem cell (iPSC)-derived neurons from patients with AP-4-associated HSP; 2) to characterize these neurons…Clinical and genetic heterogeneity in Indian subcontinent patients with Autosomal Dominant Spinocerebellar Ataxia 42
Objective: We describe the case of a family of 2 female siblings of Indian subcontinent with genetically proven SCA 42 Background: Spinocerebellar ataxia (SCA) are…Clinical and genetic heterogeneity in portuguese patients with Hereditary Spastic Paraplegia
Objective: To characterize the demographic, clinical and genetic features of HSP and to define the phenotypic spectrum and genotype-specific differences. Background: Hereditary spastic paraplegia (HSP)…
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