Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments. - Wikidata - awgldk - TriplyDB

Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments.

Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments.

http://www.wikidata.org/entity/Q36879671

about

Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction.Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1.Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1 Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle.CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients.Circulating Irisin Is Reduced in Male Patients with Type 1 and Type 2 Myotonic Dystrophies.Gonadal failure is associated with visceral adiposity in myotonic dystrophies.High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2.

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Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments.

http://www.wikidata.org/entity/Q36879671

description

2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年论文

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Identification and characteriz ...... cular and cardiac assessments.

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Identification and characteriz ...... cular and cardiac assessments.

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BioMed Research International

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Identification and characteriz ...... cular and cardiac assessments.

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Alessio Colombo

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Chiara Verdelli

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Elisa Brigonzi

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Fortunata Lombardi

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Massimiliano Valisi

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Rea Valaperta

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Valeria Sansone

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P2860

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

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

Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.

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

Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and preimplantation embryos.

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

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

New classification and treatment for myotonic disorders.

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

RNA-mediated neuromuscular disorders.

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10.1155/2013/958510

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2013

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