(Q74014571)

English

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

scientific article published on 01 July 2001

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

myotonic dystrophy

1 reference

based on heuristic

inferred from title

proximal myotonic myopathy

1 reference

based on heuristic

inferred from title

author name string

C Schneider

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

C Wessig

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

C R Müller

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

D Brechtelsbauer

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

T Grimm

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

publication date

1 July 2001

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Neuromuscular Disorders

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

485-488

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900218-2

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%2800%2900218-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900218-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of proximal myotonic myopathy to chromosome 3q.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900218-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic mapping of a second myotonic dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900218-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900218-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900218-2

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900218-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(00)00218-2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11404122%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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