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…Case of neuroferritinopathy with isolated dystonic leg cramps and normal neuroimaging
Objective: To describe a case of genetically proven neuroferritinopathy with isolated dystonic leg cramps and normal neuro-imaging. Background: Neuroferritinopathy(NF) is an autosomal dominant condition characterized…Metoclopramide-induced acute dystonic reaction caused by CYP2D6 *4/*4 and CYP2D6 *10/*10 genotypes
Objective: Objective is to demonstrated the role of CYP P450 2D6 polymorphisms in metoclopramide-induced acute dystonic reactions. Background: Metoclopramide can induce acute extrapyramidal reactions by…Mosaic divergent repeat interruptions in X-linked dystonia-parkinsonism: stability over generations and time
Objective: This study aims to investigate the stability of Mosaic Divergent Repeat Interruptions affecting motif Length and Sequence (mDRILS) frequencies and repeat length across generations…Dystonia as presenting feature of Witteveen-kolk Syndrome
Objective: To describe the clinical heterogeneity and expand the phenotypic spectrum of Witteveen- Kolk syndrome Background: Witteveen-Kolk syndrome (WITKOS) is a neurodevelopmental condition, first described…Case report of atypical PKAN expressed in late sixth-decade
Objective: We report a case of atypical PKAN expressed in late adulthood with a typical radiologic finding and genetic confirmation. Background: Pantothenate-kinase-associated neurodegeneration (PKAN) is…DYT1 gene mutation: an atypical presentation with myoclonic dystonia
Objective: In the present work, we describe the case of a 54 years old man who presented a young-age onset (7-8 years old) of unilateral…Striatal neurodegeneration in female carriers of the TAF1 Mutation Causing X-linked Dystonia-Parkinsonism
Objective: To determine whether structural brain changes are present in female carriers (MC) of the TAF1 pathogenic change causing X-linked dystonia-parkinsonism (XDP). Background: XDP is an X-linked…Exome-wide and Mitogenome Sequencing of Indian Dystonia Patients
Objective: To identify whole exome and mitochondrial genome mutation spectrum of dystonia in India and to establish clinical significance of mutations by phenotype-genotype correlation. Background:…
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