The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. - Wikidata - wikimedia - TriplyDB

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

http://www.wikidata.org/entity/Q33594634

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Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice Myotonic disorders: A review article Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype Functional and histopathological identification of the respiratory failure in a DMSXL transgenic mouse model of myotonic dystrophy.Instability versus predictability: the molecular diagnosis of myotonic dystrophy.Dynamic mutations on the move.Huntington's disease in Grampian region: correlation of the CAG repeat number and the age of onset of the disease.Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification.Paternal transmission of congenital myotonic dystrophy Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy.Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I.Triplet repeat expansion in neuromuscular disease.Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)Learning the secrets of human chromosomes: Canada's role in an international project.Negative expansion of the myotonic dystrophy unstable sequence.Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress.De novo myotonic dystrophy mutation in a Nigerian kindred.The fragile X premutation in carriers and its effect on mutation size in offspring Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study Apathy and hypersomnia are common features of myotonic dystrophy.Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments.Chronic pain in neuromuscular disease: pain site and intensity differentially impacts function.Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.Large CTG repeats trigger p16-dependent premature senescence in myotonic dystrophy type 1 muscle precursor cells Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling.Epigenetic changes and non-coding expanded repeats.Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.Correlation between the incidence of myotonic dystrophy in different groups in Israel and the number of CTG trinucleotide repeats in the myotonin gene.

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P2860

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

http://www.wikidata.org/entity/Q33594634

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1992 nî lūn-bûn

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1992 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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1992 թվականի նոյեմբերին հրատարակված գիտական հոդված

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1992年の論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年论文

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The correlation of age of onse ...... ication in myotonic dystrophy.

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The correlation of age of onse ...... ication in myotonic dystrophy.

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The correlation of age of onse ...... ication in myotonic dystrophy.

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The correlation of age of onse ...... ication in myotonic dystrophy.

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The correlation of age of onse ...... ication in myotonic dystrophy.

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The correlation of age of onse ...... ication in myotonic dystrophy.

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The correlation of age of onse ...... ication in myotonic dystrophy.

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Hunter A

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Jacob P

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Korneluk R

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Mahadevan M

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Mettler G

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P2860

A simple salting out procedure for extracting DNA from human nucleated cells

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

Cloning of the essential myotonic dystrophy region and mapping of the putative defect.

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.

An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

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