Genetics and molecular pathogenesis of the myotonic dystrophies (Q36022223)

11 August 2017

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title

Genetics and molecular pathogenesis of the myotonic dystrophies (English)

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11 August 2017

John W Day

1

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11 August 2017

Laura P W Ranum

series ordinal

2

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11 August 2017

publication date

1 February 2005

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Current Neurology and Neuroscience Reports

11 August 2017

published in

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11 August 2017

volume

5

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11 August 2017

issue

1

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11 August 2017

page(s)

55-59

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Proximal myotonic myopathy with MRI white matter abnormalities of the brain

11 August 2017

cites work

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https://api.crossref.org/works/10.1007%2FS11910-005-0024-1

Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0024-1

Screening for intracranial aneurysms after subarachnoid hemorrhage: do our patients benefit?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0024-1

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0024-1

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0024-1

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

21 January 2018

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12 December 2020

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

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12 December 2020

Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model

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12 December 2020

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

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12 December 2020

CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus

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12 December 2020

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

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12 December 2020

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

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12 December 2020

RNA leaching of transcription factors disrupts transcription in myotonic dystrophy

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12 December 2020

Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein

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12 December 2020

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

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12 December 2020

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

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12 December 2020

Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy

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12 December 2020

Cellular nucleic acid binding protein binds a conserved region of the 5' UTR of Xenopus laevis ribosomal protein mRNAs

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12 December 2020

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

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12 December 2020

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

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12 December 2020

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

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12 December 2020

Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy

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12 December 2020

Genetic mapping of a second myotonic dystrophy locus

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12 December 2020

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

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12 December 2020

Muscleblind proteins regulate alternative splicing

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12 December 2020

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

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12 December 2020

A muscleblind knockout model for myotonic dystrophy

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12 December 2020

Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder

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12 December 2020

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities

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12 December 2020

Insulin receptor splicing alteration in myotonic dystrophy type 2.

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12 December 2020

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy

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12 December 2020

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

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12 December 2020

Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

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12 December 2020

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

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12 December 2020

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

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12 December 2020

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

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12 December 2020

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

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12 December 2020

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

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12 December 2020

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

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12 December 2020

Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.

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12 December 2020

Cardiac disease in myotonic dystrophy

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12 December 2020

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)

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12 December 2020

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

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12 December 2020

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

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12 December 2020

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

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12 December 2020

Distribution and evolution of CTG repeats at the myotonin protein kinase gene in human populations

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12 December 2020

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

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12 December 2020

Myotonic dystrophy with no trinucleotide repeat expansion

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12 December 2020

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

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12 December 2020

Origin of the expansion mutation in myotonic dystrophy

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12 December 2020

Sudden cardiac death in myotonic dystrophy type 2.

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12 December 2020

Involvement of the Xenopus laevis Ro60 autoantigen in the alternative interaction of La and CNBP proteins with the 5'UTR of L4 ribosomal protein mRNA

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12 December 2020

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

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12 December 2020

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

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12 December 2020

Muscle pathology in 57 patients with myotonic dystrophy type 2

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12 December 2020

Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts

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12 December 2020

10.1007/S11910-005-0024-1

Identifiers

DOI

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11 August 2017

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