Myotonic dystrophy type 2 and related myotonic disorders (Q35926958)

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scientific article published in October 2004

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English	Myotonic dystrophy type 2 and related myotonic disorders	scientific article published in October 2004

Statements

instance of

scholarly article

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stated in

Europe PubMed Central

PubMed publication ID

15503094

retrieved

11 August 2017

review article

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Europe PubMed Central

title

Myotonic dystrophy type 2 and related myotonic disorders (English)

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Europe PubMed Central

PubMed publication ID

15503094

retrieved

11 August 2017

main subject

myotonic dystrophy

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based on heuristic

inferred from title

author

Giovanni Meola

series ordinal

1

object named as

Giovanni Meola

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Europe PubMed Central

PubMed publication ID

15503094

retrieved

11 August 2017

author name string

Richard T Moxley

series ordinal

2

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stated in

Europe PubMed Central

PubMed publication ID

15503094

retrieved

11 August 2017

publication date

1 October 2004

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stated in

Europe PubMed Central

PubMed publication ID

15503094

retrieved

11 August 2017

published in

Journal of Neurology

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Europe PubMed Central

PubMed publication ID

15503094

retrieved

11 August 2017

volume

251

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Europe PubMed Central

PubMed publication ID

15503094

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11 August 2017

issue

10

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Europe PubMed Central

PubMed publication ID

15503094

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11 August 2017

page(s)

1173-1182

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Europe PubMed Central

PubMed publication ID

15503094

retrieved

11 August 2017

cites work

Linkage of proximal myotonic myopathy to chromosome 3q.

1 reference

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Crossref

reference URL

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

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21 January 2018

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

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Crossref

reference URL

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

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21 January 2018

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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inferred from PubMed ID database lookup

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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RNA leaching of transcription factors disrupts transcription in myotonic dystrophy

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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inferred from PubMed ID database lookup

Clinical and genetic heterogeneity in myotonic dystrophies

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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Proximal myotonic myopathy: a syndrome with a favourable prognosis?

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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Myotonic syndromes

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping of a second myotonic dystrophy locus

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypothyroidism unmasking proximal myotonic myopathy

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heat-sensitive myotonia in proximal myotonic myopathy

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A muscleblind knockout model for myotonic dystrophy

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insulin receptor splicing alteration in myotonic dystrophy type 2.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM)

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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[Camptocornia presenting with a proximal myotonic myopathy]

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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[An unrecognized cause of camptocormia: proximal myotonic myopathy]

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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A patient with proximal myotonic myopathy and parkinsonism

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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Cardiac involvement in proximal myotonic myopathy

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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Proximal myotonic myopathy with MRI white matter abnormalities of the brain

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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Muscle pathology in 57 patients with myotonic dystrophy type 2

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

based on heuristic

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

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15503094

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12 December 2020

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Identifiers

DOI

10.1007/S00415-004-0590-1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15503094

retrieved

11 August 2017

PubMed publication ID

15503094

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15503094

retrieved

11 August 2017

ResearchGate publication ID

8214240

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