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…Turkish Version of the Johns Hopkins Restless Leg Syndrome Quality of Life Questionnaire (RLS-QOL): Validity and Reliability Study
Objective: In this study, we aimed to analyse the validity and reliability of the RLS-QoL questionnaire in patients with RLS from our Movement Disorders Outpatient…Modulation of Na+/K+ ATPase activity of rat brain synaptosome by norepinepherine and serotonin
Objective: We tried to study the effect of Norepinepherine and Serotonin on Sodium Potassium ATPase in rat brain synaptosome. Background: Sleep and wakefulness are behavioral…Identifying the association of depression and distress in Pakistani patients diagnosed with Parkinsonism syndrome
Objective: Our study aims to identify depression and distress among Pakistani patients diagnosed with Parkinsonism syndrome. We also aim to find out the relationship among depression, distress caused Parkinsonism syndrome.…The Impact of Parkinson’s Disease to Quality of Life
Objective: The objective of this study is to identify the quality of life in patients with Parkinson's Disease Background: Parkinson’s disease (PD) is a neurodegenerative…
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