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A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaDiagnosis and treatment of dystoniaTreatment of myoclonusDistribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.An Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus.Treatment of dystonia.Genetics of dystonia: what's known? What's new? What's next?Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse modelsDiagnosis of dystonic syndromes--a new eight-question approach.A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously.Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse modelsSGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.Psychiatric disorders, myoclonus dystonia and SGCE: an international studyMetabolic changes in DYT11 myoclonus-dystonia.A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese familyPhenotypic insights into ADCY5-associated disease.Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.Milestones in dystonia.Milestones in myoclonus.Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.Diagnostic issues in childhood and adult dystonia.The genetics of dystonia: new twists in an old tale.The genetics of the dystonias--a review based on the new classification of the dystonias.Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Understanding dystonia: diagnostic issues and how to overcome them.Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.Clinical Management of Dystonia in Childhood.Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.Surgical treatment of myoclonus dystonia syndrome.Emerging Monogenic Complex Hyperkinetic Disorders.Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children.Pallidal stimulation for myoclonus-dystonia: Ten years' outcome in two patients.Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up.Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability.Epigenome: the program for human health and disease.Transient symptomatic worsening by atropine in opsoclonus-myoclonus syndrome.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 syndrome: case report.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Myoclonus-dystonia: an update.
@en
Myoclonus-dystonia: an update.
@nl
type
label
Myoclonus-dystonia: an update.
@en
Myoclonus-dystonia: an update.
@nl
prefLabel
Myoclonus-dystonia: an update.
@en
Myoclonus-dystonia: an update.
@nl
P2093
P2860
P356
P1433
P1476
Myoclonus-dystonia: an update.
@en
P2093
David Grabli
Emmanuel Roze
Emmanuelle Apartis
Fabienne Clot
Kiyoka Kinugawa
P2860
P304
P356
10.1002/MDS.22425
P407
P577
2009-03-01T00:00:00Z