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…Parkinson-related CHCHD2 is necessary for oligomerization of ALS/FTD-related CHCHD10
Objective: Characterization of isogenic CHCHD2, CHCHD10, and CHCHD2/10 double knockout out cell lines with assays of mitochondrial function, mitochondrial sublocalization, and homo- and heterodimerization. Background:…Studying genes involved in abnormalities of the basal ganglia and iron homeostasis using gene co-expression network analysis
Objective: To unravel the disease mechanisms underlying neurodegeneration with brain iron accumulation (NBIA) and to identify potential novel disease genes. Background: NBIA is clinically and…A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer’s disease
Objective: To perform a clinical and a genetic study in an Italian family with a complicated form of hereditary spastic paraplegia (HSP) and Alzheimer’s disease…Analysis of secondary causes in Fahr’s syndrome and whole exome sequencing in Fahr disease from Northeast China and South Korean
Objective: In this study, patients with Fahr syndrome were analyzed for etiology, and genetic testing was performed for patients with Fahr disease from Northeast China…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)…Primary familial brain calcification – The impact of calcifications on the development of motor symptoms
Objective: The aim of the present study was to investigate whether the nigro-striatal system in a genetic mouse model of primary familial brain calcification (PFBC)…A Randomized Trial of Deferiprone for Pantothenate Kinase-Associated Neurodegeneration
Objective: To investigate whether treatment with the iron-chelating drug deferiprone (DFP) has benefit in patients with pantothenate kinase-associated neurodegeneration (PKAN), the most common form of…Deep brain stimulation for monogenic Parkinson’s disease: A systematic review
Objective: The aim was to systematically investigate the outcome of deep brain stimulation (DBS) in genetic Parkinson’s disease (PD) compared to the patients with documented…Intensive speech rehabilitation in degenerative ataxias improves intelligility
Objective: To test the efficacy and tolerability of intensive home based treatment for dysarthria in ataxia Background: The loss of the ability to speak is…
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