(Q74342526)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

1 reference

proximal myotonic myopathy

1 reference

W Kress

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

B Mueller-Myhsok

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

K Ricker

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

C Schneider

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M C Koch

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

K V Toyka

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

C R Mueller

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

T Grimm

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 October 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

478-480

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

Expanding complexity in myotonic dystrophy

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900129-2

7 January 2021

Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900129-2

7 January 2021

Genetic mapping of a second myotonic dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900129-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900129-2

7 January 2021

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%2900129-2

7 January 2021

Linkage of proximal myotonic myopathy to chromosome 3q.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900129-2

7 January 2021

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%2900129-2

7 January 2021

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%2800%2900129-2

7 January 2021

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%2900129-2

7 January 2021

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900129-2

7 January 2021

A bootstrap approach to estimating power for linkage heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900129-2

7 January 2021

10.1016/S0960-8966(00)00129-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10996776%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference