Startle Reflex in CTNNB1 Mutations: A diagnostic Clue
Objective: To describe two patients with CTNNB1 mutation with a startle reflex, an underrecognised clinical sign. Background: CTNNB1 mutations is an increasingly recognised cause of…Spastic paraparesis and paroxysmal dystonia associated with a novel mutation in ATP1A3 in a spanish family
Objective: To describe a new phenotype related to a novel mutation in ATP1A3 in two women from the same family Background: Mutations in ATP1A3 have…Tetradystonics patients may be misdiagnosed?
Objective: Present a case of movement disorder that genetic panel hasn’t tracked in the screening, and it’s stabilization with L-carnitine. Background: isobutyryl-CoA dehydrogenase deficiency is…Deep brain stimulation of globus pallidus internus for monogenic dystonia
Objective: We aimed to evaluate the efficacy of GPi-DBS in patients with monogenic autosomal dominant dystonia associated with mutations in TOR1A(DYT1), THAP(DYT6),and KMT2B (DYT28) genes.…ATP8A2 Mutation in a Tunisian Family : Expanding The Clinical Spectrum
Objective: Our aim was to report the clinical and paraclinical findings from two siblings who presented with a new phenotype of ATP8A2 gene mutation. Background:…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…
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