(Q34096504)

31 July 2017

1 reference

title

Clinical and genetic heterogeneity in myotonic dystrophies (English)

1 reference

31 July 2017

Meola G

1

1 reference

31 July 2017

language of work or name

1 reference

1 December 2000

1 reference

31 July 2017

1 reference

31 July 2017

volume

23

1 reference

31 July 2017

issue

12

1 reference

31 July 2017

page(s)

1789-1799

1 reference

Brain proton magnetic resonance spectroscopy and brain atrophy in myotonic dystrophy.

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Somatic instability of CTG repeat in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

From mutation to myotonia in sodium channel disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Personality patterns in patients with myotonic dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Expanding complexity in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

A newly-described myotonic disorder (proximal myotonic myopathy--PROMM): personal experience and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Antimyotonic therapy with tocainide under ECG control in the myotonic dystrophy of Curschmann-Steinert.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. 10-12th October 1997, Naarden, The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Cardiac disease in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Genetic mapping of a second myotonic dystrophy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Myotonic dystrophy and proximal myotonic myophathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Linkage of proximal myotonic myopathy to chromosome 3q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Direct detection of novel expanded trinucleotide repeats in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Myotonic dystrophy. The role of large triplet repeat length in the development of mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Cardiac involvement in a large kindred with myotonic dystrophy. Quantitative assessment and relation to size of CTG repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Acetazolamide-responsive myotonia congenita.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Instability of the (CTG)n repeat in congenital myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

AFM/MDA 1st International Myotonic Dystrophy Consortium Conference 30 June-1 July 1997, Paris, France

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Possible role of apamin-sensitive K+ channels in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Cardiac involvement in patients with myotonic dystrophy: characteristic features of magnetic resonance imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Effect of testosterone on muscle protein synthesis in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Lack of relationship of hypogonadism to muscle wasting in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

CTG-repeat length in distal and proximal leg muscles of symptomatic and non-symptomatic patients with myotonic dystrophy: relation to muscle strength and degree of histopathological abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

[A patient with muscle pain after a journey to the tropics. Myocardial involvement in proximal myotonic myopathy]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Congenital myotonic dystrophy pathology and somatic mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Treatment of myotonia with antiarrhythmic drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Proximal weakness as the primary manifestation of myotonic dystrophy in older adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Myotonic dystrophies--how many are there?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

A 10-year study of mortality in a cohort of patients with myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Thornton-Griggs-Moxley disease: myotonic dystrophy type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Heat-sensitive myotonia in proximal myotonic myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

The exercise test distinguishes proximal myotonic myopathy from myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Carbamazepine versus Diphenylhydantoin in the Treatment of Myotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Getting a grip on the myotonic dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Myotonic dystrophy with no trinucleotide repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Cardiac involvement in proximal myotonic myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200012%2923%3A12%3C1789%3A%3AAID-MUS2%3E3.0.CO%3B2-4

10.1002/1097-4598(200012)23:12<1789::AID-MUS2>3.0.CO;2-4

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference