Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

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Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy.

P2860

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P2860

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

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http://www.wikidata.org/entity/Q39333700

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

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Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

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label

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

@en

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

@nl

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Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

@en

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

@nl

P1476

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach

@en

P2093

Giovanni Meola

http://www.w3.org/2001/XMLSchema#string

Rea Valaperta

http://www.w3.org/2001/XMLSchema#string

Rosanna Cardani

http://www.w3.org/2001/XMLSchema#string

P2860

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

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

Deregulated microRNAs in myotonic dystrophy type 2

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

Splicing biomarkers of disease severity in myotonic dystrophy

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract

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

P2888

s00415-017-8504-1

P304

1705-1714

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scholarly article

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10.1007/S00415-017-8504-1

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264

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Elena Costa

F Biasini

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2017-05-26T00:00:00Z

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28550479

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Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

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P2860

P2860

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

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type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698