Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
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A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaEvidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystoniaSam68 regulates a set of alternatively spliced exons during neurogenesisHomozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystoniaDistribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.Myoclonus-dystonia syndrome associated with Russell Silver syndrome.The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprintedSevere myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutationMyoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotypeEpsilon-sarcoglycan mutations found in combination with other dystonia gene mutationsCACNA1B mutation is linked to unique myoclonus-dystonia syndromeSex Differences in Clinical Features of Early, Treated Parkinson's Disease.The Dystrophin Complex: Structure, Function, and Implications for TherapyAn Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus.Myoclonic disorders: a practical approach for diagnosis and treatment.Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome.Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.Genetics of dystonia: what's known? What's new? What's next?Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data.A genome scan for positive selection in thoroughbred horses.Proteomic profiling of human intraschisis cavity fluidClinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation.Identification of a large novel imprinted gene cluster on mouse proximal chromosome 6.SGCE mutations cause psychiatric disorders: clinical and genetic characterizationDifferentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Convergent evidence for abnormal striatal synaptic plasticity in dystonia.Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma.Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse modelsThe early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.The phenotypic spectrum of DYT24 due to ANO3 mutations.Inherited and de novo mutations in sporadic cases of DYT1-dystonia.Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia.Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.New perspectives on dystonia.Obsessive-compulsive disorder and its related disorders: a reappraisal of obsessive-compulsive spectrum concepts.Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models
P2860
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P2860
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@ast
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@en
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@nl
type
label
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@ast
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@en
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@nl
prefLabel
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@ast
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@en
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@nl
P2093
P50
P3181
P356
P1433
P1476
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
@en
P2093
B Müller-Myhsok
K Scheidtmann
M Grabowski
P2888
P3181
P356
10.1038/NG709
P407
P577
2001-09-01T00:00:00Z