Tremor and parkinsonism in Chromosomopathies – a systematic review
Objective: To review the co-occurrence of parkinsonism and tremor syndromes in patients with chromosomic disorders. Background: The landscape of genetic forms of Parkinson’s diseases (PD)…Assessment of RADIAL, a tool for the diagnostic of autosomal recessive cerebellar ataxia: a prospective study
Objective: Our objective was to validate “RADIAL” ( Recessive Ataxias ranking differential DIagnosis Algorithm) for the diagnosis of Autosomal Recessive Cerebellar Ataxia (ARCA). Background: ARCA…The potential modifier effect of C9orf72 DNA methylation in C9ORF72 carriers
Objective: To develop molecular assays for determining the influence of hypermethylation on age of onset for C9ORF72 carriers. Background: Hexanucleotide repeats of GGGGCC in C9ORF72 is…Detection of genetic modifiers in PRKN
Objective: In this study, we investigate the Hypothesis 1 using Next-generation sequencing (NGS). Background: In 1998, we reported homozygous mutations of PRKN as the causative…Neurofascin is a novel gene associated with autosomal recessive spastic and polyneuropathy
Objective: We aim to find the genetic defect causing infantile-onset ataxia and mild demyelinating neuropathy in two siblings of an Italian consanguineous family. Background: Neurofascin…The Sequelae of Kernicterus
Objective: To highlight the long- term sequelae of Kernicterus Background: Kernicterus refers to the clinical features of chronic bilirubin encephalopathy which if not treated can…Fragile X Gray Zone Alleles in Men are associated with Parkinsonism
Objective: To determine the association between FMR1 gray zone expansions and the presence of parkinsonism, motor, and cognitive function in an elderly community-based population. Background:…Longitudinal analysis of disease progression in a large PKAN cohort in the Dominican Republic
Objective: To analyze the rate of disease progression of PKAN over a 12 year period in 37 patients with genetically-confirmed PKAN in the Dominican Republic.…HGprt deficient brain RNA expression patterns reveal specific abnormalities related to neuronal function in a mouse model of Lesch-Nyhan disease.
Objective: To determine the effect of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on mouse brain RNA expression patterns in multiple brain areas, during embryonic development…Disease-in-a-dish: drug discovery using patient-derived stem cells in Hereditary Spastic Paraplegia
Objective: Identify a drug treatment for Hereditary Spastic Paraplegia (HSP) using patient-derived stem cell models Background: HSP is a neurological disorder characterised by axonal degeneration…
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