Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia - Wikidata - awgldk - TriplyDB

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

http://www.wikidata.org/entity/Q24616239

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DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency The origin and evolution of genomic imprinting and viviparity in mammals Distribution 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.Myoclonic disorders: a practical approach for diagnosis and treatment.Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.A genome scan for positive selection in thoroughbred horses.SGCE mutations cause psychiatric disorders: clinical and genetic characterization Diagnosis of dystonic syndromes--a new eight-question approach.Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.Movement disorders and alcohol misuse.Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.Metabolic changes in DYT11 myoclonus-dystonia.Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Loss of RNA expression and allele-specific expression associated with congenital heart disease.Primary dystonia: molecules and mechanisms.Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.Milestones in dystonia.Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Non-coding RNAs in muscle differentiation and musculoskeletal disease.Sporadic and familial myoclonic dystonia: Report of three cases and review of literature Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?Update on the Genetics of Dystonia.Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation.[Genetics of movement disorders].Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.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.Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

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P2860

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

http://www.wikidata.org/entity/Q24616239

description

2002 nî lūn-bûn

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2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

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name

Evidence that paternal express ...... netrance in myoclonus-dystonia

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Evidence that paternal express ...... netrance in myoclonus-dystonia

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Evidence that paternal express ...... netrance in myoclonus-dystonia

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type

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Evidence that paternal express ...... netrance in myoclonus-dystonia

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Evidence that paternal express ...... netrance in myoclonus-dystonia

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Evidence that paternal express ...... netrance in myoclonus-dystonia

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Evidence that paternal express ...... netrance in myoclonus-dystonia

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Evidence that paternal express ...... netrance in myoclonus-dystonia

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Evidence that paternal express ...... netrance in myoclonus-dystonia

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Evidence that paternal express ...... netrance in myoclonus-dystonia

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Birgitt Müller

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Eberhard Schwinger

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Jennifer Garrels

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Jürgen Sperner

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Katja Hedrich

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Laurie Ozelius

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Marina Svetel

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Matthias Nitschke

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Natasa Dragasevic

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Norman Kock

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P2860

A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.

Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families.

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.

A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.

Imprinting-mutation mechanisms in Prader-Willi syndrome

DNA methylation and genomic imprinting.

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10.1086/344531

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Christine Klein

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