(Q50509134)

English

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

scientific article published in June 1997

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

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

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

muscular dystrophy

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author name string

Udd B

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

Krahe R

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

Wallgren-Pettersson C

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

Falck B

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

Kalimo H

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

publication date

1 June 1997

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

Neuromuscular Disorders

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

217-228

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Thornton-Griggs-Moxley disease: myotonic dystrophy type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

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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.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Computer-simulation methods in human linkage analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics and physiology of the myotonic muscle disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

The heart in myotonia atrophica

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Increased activity of serum gamma-glutamyltransferase in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Computed tomographic findings of brain and skull in myotonic dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

[Inner ear deafness in dystrophia myotonica and progressive muscular dystrophy]

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Oculomotor, auditory, and vestibular responses in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Auditory abnormalities, including 'precocious presbyacusis', in myotonic dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Myotonia Dystrophica: Studies on Gonadal Function Using Luteinizing Hormone-Releasing Hormone (LRH)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Cardiopulmonary insufficiency associated with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Heat-sensitive myotonia in proximal myotonic myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Report on the 12th ENMC sponsored international workshop--the "limb-girdle" muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900041-2

7 January 2021

based on heuristic

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Identifiers

10.1016/S0960-8966(97)00041-2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/9196902

ResearchGate publication ID

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