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Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

http://www.wikidata.org/entity/Q58183211

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CACNA1B mutation is linked to unique myoclonus-dystonia syndrome Myoclonic disorders: a practical approach for diagnosis and treatment.SGCE mutations cause psychiatric disorders: clinical and genetic characterization Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout mice Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?Decreased dopamine receptor 1 activity and impaired motor-skill transfer in Dyt1 ΔGAG heterozygous knock-in mice.Pre-synaptic release deficits in a DYT1 dystonia mouse model.Behavioral and electrophysiological characterization of Dyt1 heterozygous knockout mice.SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.Psychiatric disorders, myoclonus dystonia and SGCE: an international study Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation.Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.EFNS guidelines on diagnosis and treatment of primary dystonias.Milestones in dystonia.Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children.Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.Myoclonic Disorders.Exploring the pathogenesis of canine epilepsy using a systems genetics method and implications for anti-epilepsy drug discovery.A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.Myoclonus-dystonia syndrome: case report.

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Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

http://www.wikidata.org/entity/Q58183211

description

im Dezember 2008 veröffentlichter wissenschaftlicher Artikel

@de

wetenschappelijk artikel

@nl

наукова стаття, опублікована в грудні 2008

@uk

name

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

@en

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

@nl

type

label

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

@en

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

@nl

prefLabel

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

@en

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

@nl

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JNNP.2008.162099

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Journal of Neurology, Neurosurgery and Psychiatry

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Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

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B R Bloem

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C van der Linden

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E M J Foncke

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F van Ruissen

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J D Speelman

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M A J Tijssen

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M D I Vergouwen

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R Crols

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scholarly article

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10.1136/JNNP.2008.162099

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