Adult-onset Niemann-Pick C in India: phenotype and genotype
Objective: This study was aimed to describe the clinical, radiological, and molecular profile of adults affected by NPC. Background: Adult-onset Niemann-Pick C (NPC) is a…GNAO1-related Neurodevelopmental Disorder with Involuntary Movements Inducing a Dyskinetic Status
Objective: Presenting the case of a patient with a GNAO1 mutation who exhibited severe movement disorder and underwent GPi-DBS Background: GNAO1 mutations manifest in two…Delineating the Molecular and Clinical Spectrum of Epilepsy-Dyskinesia Syndromes in Children (The Epilepsy-Dyskinesia Spectrum Study)
Objective: To understand the spectrum and association of movement and seizure disorders on a clinical and molecular level. Background: Epilepsy-Dyskinesia Syndromes (EDS) are neurological conditions…Movement disorders spectrum in CTNNB1-related neurodevelopmental disorders
Objective: To describe the phenomenology and clinical course of movement disorders in CTNNB1-related neurodevelopmental disorder (CTNNB1-NDD). Background: CTNNB1-NDD is a rare neurogenetic condition caused by…Exploring the effects of torsinA dysfunction in an iPSC-derived neuronal model of TOR1A dystonia
Objective: To investigate phenotypic differences between iPSC-differentiated cortical neurons derived from patients with TOR1A dystonia compared to healthy controls. Background: Primary generalised dystonia is most…Monogenic Dystonia and Deep Brain Stimulation: Single Center Experience
Objective: The aim of this study was to retrospectively assess the efficacy of deep brain stimulation in patients with confirmed monogenic dystonia. Background: Treatment of…PFBC and dystonia: description of a cohort and peculiar cases
Objective: To describe dystonia in a PFBC cohort Background: Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by calcium deposition in basal…Chromosomal Microarray Analysis for genetic evaluation of dystonia
Objective: To identify copy number variants (CNVs) associated with isolated or combined dystonia in Indian patients using chromosomal microarray analysis (CMA). Background: Chromosomal aberrations, especially…Association of NOTCH2NLC repeat expansions with dystonia
Objective: We aimed to investigate whether NOTCH2NLCGGC repeats have a role in dystonia. Background: Expanded GGC repeatin the 5' untranslated region of the NOTCH2NLCgene has been identified…Voice- tremor in a patient with positive VPS 16 nonsense mutation: Expanding the phenotype
Objective: Reporting a case of voice-tremor in a patient with heterozygous non-sense variation in exon 16 of VPS 16 gene Background: Dystonia-30 is caused by…
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