(Q35926958)

11 August 2017

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title

Myotonic dystrophy type 2 and related myotonic disorders (English)

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11 August 2017

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1

Giovanni Meola

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11 August 2017

Richard T Moxley

2

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11 August 2017

publication date

1 October 2004

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11 August 2017

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11 August 2017

volume

251

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11 August 2017

issue

10

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11 August 2017

page(s)

1173-1182

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Linkage of proximal myotonic myopathy to chromosome 3q.

11 August 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-004-0590-1

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-004-0590-1

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy

1 reference

12 December 2020

Proximal myotonic myopathy (PROMM). Clinical variability within a family

1 reference

12 December 2020

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

1 reference

12 December 2020

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

12 December 2020

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.

1 reference

12 December 2020

RNA leaching of transcription factors disrupts transcription in myotonic dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study

1 reference

12 December 2020

Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)

1 reference

12 December 2020

Clinical and genetic heterogeneity in myotonic dystrophies

1 reference

12 December 2020

Proximal myotonic myopathy: a syndrome with a favourable prognosis?

1 reference

12 December 2020

Proximal myotonic myopathy and proximal myotonic dystrophy: two different entities? The phenotypic variability of proximal myotonic syndromes

1 reference

12 December 2020

Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)

1 reference

12 December 2020

Intolerance to neuroleptics and susceptibility for malignant hyperthermia in a patient with proximal myotonic myopathy (PROMM) and schizophrenia

1 reference

12 December 2020

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

1 reference

12 December 2020

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2

1 reference

12 December 2020

Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2).

1 reference

12 December 2020

[Proximal myotonial myopathy (PROMM): clinical and histology study]

1 reference

12 December 2020

Genetic mapping of a second myotonic dystrophy locus

1 reference

12 December 2020

Assessment of cardiovascular autonomic function in myotonic dystrophy type 2 (DM2/PROMM).

1 reference

12 December 2020

Hypothyroidism unmasking proximal myotonic myopathy

1 reference

12 December 2020

PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness

1 reference

12 December 2020

Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands

1 reference

12 December 2020

Heat-sensitive myotonia in proximal myotonic myopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

A muscleblind knockout model for myotonic dystrophy

1 reference

12 December 2020

Insulin receptor splicing alteration in myotonic dystrophy type 2.

1 reference

12 December 2020

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

1 reference

12 December 2020

RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1

1 reference

12 December 2020

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

1 reference

12 December 2020

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

1 reference

12 December 2020

Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM)

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

[Camptocornia presenting with a proximal myotonic myopathy]

1 reference

12 December 2020

[An unrecognized cause of camptocormia: proximal myotonic myopathy]

1 reference

12 December 2020

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

1 reference

12 December 2020

An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy

1 reference

12 December 2020

A family with PROMM not linked to the recently mapped PROMM locus DM2

1 reference

12 December 2020

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

12 December 2020

Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM

1 reference

12 December 2020

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

1 reference

12 December 2020

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

1 reference

12 December 2020

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2

1 reference

12 December 2020

A patient with proximal myotonic myopathy and parkinsonism

1 reference

12 December 2020

Cardiac involvement in proximal myotonic myopathy

1 reference

12 December 2020

Proximal myotonic myopathy with MRI white matter abnormalities of the brain.

1 reference

12 December 2020

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

1 reference

12 December 2020

Muscle pathology in 57 patients with myotonic dystrophy type 2

1 reference

12 December 2020

Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop. 13–15th October, 2000, Loosdrecht, The Netherlands

1 reference

12 December 2020

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.

1 reference

12 December 2020

10.1007/S00415-004-0590-1

Identifiers

DOI

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11 August 2017

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