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…Living with Ataxia in Ireland 2016–a nationwide survey of 130 Irish patients with inherited Ataxia
Objective: To collect real-life data from a large cohort of patients with inherited ataxia in Ireland, with special attention to the individual ataxia-related healthcare resources…Utility of ataxia gene panel testing in diagnosing inherited ataxia: evaluation of an Irish cohort
Objective: To evaluate the utility of gene panel testing in a population of patients with genetically undetermined ataxia attending the Irish National Ataxia clinic. Background:…SPG7-related ataxia in the Irish National Ataxia Clinic cohort: case series
Objective: To present comprehensive clinical, optical coherence tomography (OCT) and genetic findings on SPG7 –related cohort attending the National Ataxia Clinic in Ireland. Background: Hereditary…
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