A novel phenotype associated with GRN mutations: Spastic ataxia
Objective: We report a patient with Spastic Ataxia caused by new homozygous mutations in the GRN gene. Background: The gene GRN located on chromosome 17…Parkinson’s disease characteristics in patients with Gaucher’s disease
Objective: To assess the phenotype of Parkinson's disease (PD) patients in homozygote or compound heterozygote carriers of mutations in the β-glucocerebrosidase gene (GBA). Background: Gaucher's…Young-onset Parkinson’s disease in two siblings with compound heterozygosity for two rare parkin mutations
Objective: We report the clinical and genetic findings of two siblings who presented with early-onset Parkinson's disease (PD) and had two distinct parkin mutations, a…Transient parkinsonism during pregnancy in patient heterozygous for Gaucher’s disease: Case report
Objective: To present a case of a woman who became transient Parkinsonian during pregnancy and found to have a rare genetic mutation and describe response…Assessment of Parkinson’s disease risk loci as DNA methylation quantitative trait loci
Objective: To gain potential mechanistic insight into the pathogenesis of Parkinson's disease (PD), a map of DNA methylation in normal human brain assessing 486,428 CpG…Substantial motor and non-motor symptoms in children and adults with classical galactosemia and organic acidurias
Objective: To investigate the prevalence of movement disorders (MDs), their impact on quality of life (QoL) and accompanying non-motor symptoms in patients with classical galactosemia…Parkinson’s disease-associated Miro1 mutants cause mitochondrial dysfunction
Objective: In the present study we dissected the role of the first PD-associated mutations in RhoT1, the gene encoding for Miro1. Background: Commonly involved pathogenic…Mitochondrial dysfunction in skin fibroblasts from single heterozygous ATP13A2 (PARK9) mutation carriers
Objective: To investigate the pathogenic effect of single heterozygous mutations in ATP13A2, we determined the function and morphological changes of mitochondria in skin fibroblasts derived…Differences of gut bacterial community relate to pathology progress in Parkinson’s disease
Objective: The aim of this study is to examine whether intestinal microbiota correlate with progression of clinical severity and serum inflammation marker. Background: Constipation is…Localization and functional study of synaptic vesicle protein synaptogyrin-3 (SYNGR3) on dopaminergic neuronal system
Objective: To investigate (1) the intracellular localization of SYNGR3 and its interaction with dopamine transporter (DAT); (2) how expression of SYNGR3 in neurons affects dopamine…
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