Movement disorders in children with neurometabolic and neurodegenerative disorders: A single-center prospective study
Objective: To analyze the prevalence, patterns and severity of movement disorders in children with genetically proven neurometabolic and neurodegenerative diseases. Background: Movement disorders are often…Transcriptomic profiling in DYT1 dystonia: unravelling pathogenic pathways.
Objective: The aim of this project is to investigate post-mortem brain tissues, iPSC and iPSC-derived neurons from controls and patients with DYT1 dystonia to find…Pronounced Cervical Dystonia in Ataxia with Vitamin E Deficiency
Objective: Objective: To describe a case report of an atypical phenotype of ataxia with vitamin E deficiency (AVED) and marked cervical dystonia. Background: Background: AVED…Transcranial magnetic stimulation study in primary dystonia of presumed genetic etiology
Objective: To study the neurophysiological parameters in primary dystonia of presumed genetic etiology using transcranial magnetic stimulation (TMS) and correlate with their genotype. Background: The…The use of pallidal deep brain stimulation (GPi-DBS) to treat GNAO1 gene associated hyperkinetic syndromes
Objective: To describe the clinical features and benefits of GPi-DBS approach in two patients with GNAO1 gene mutations to whom several episodes of choreo-dystonia exacerbations…Bilateral GPi DBS for the treatment of a general dystonia with EIF2AK2 mutant: Report of globus pallidus local field potentials and the therapeutic outcome
Objective: We reported a generalized dystonia patient with eukaryotic translation initiation factor 2 alpha kinase 2 (EIF2AK2) gene mutation who underwent bilateral Globus pallidus interna…Mutation in TUBB4a causing from dystonia to spastic quadriparesis across one family
Objective: Here we want to present one family in which there is diverse phenotype with probable pathogenic novel mutation in TUBB4A gene. Background: Mutation in…Widening the phenotype of FXTAS in females: Spasmodic dysphonia in two patients
Objective: We present the cases of two female FXTAS patients who both developed spasmodic dysphonia (SD), also known as laryngeal dystonia. Background: Fragile-X-associated tremor/ataxia syndrome…Scoring Algorithm-Based Genomic Testing in Dystonia: real-life data from the outpatient clinic
Objective: To test a scoring algorithm to guide genetic testing in dystonia. Background: Recent evidence from a large multicentric study allowed to establish a scoring…KMT2B episignature analysis identifies a probably hypomorphic missense variant in a family with dystonic and non-dystonic phenotypes
Objective: Recently, DNA methylation episignature analysis has been introduced as a tool enabling re-classification of “variants of uncertain significance“ (VUS) in lysine-specific methyltransferase 2B (KMT2B),…
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