(Q83327642)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21279644%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21279644%20AND%20SRC:MED&resulttype=core&format=json

distal muscular dystrophy

21 January 2020

main subject

1 reference

3

1 reference

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21 January 2020

author name string

Odile Dubourg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21279644%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Thierry Maisonobe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21279644%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Tiina Suominen

4

1 reference

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21 January 2020

Olayinka Raheem

5

1 reference

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21 January 2020

Sini Penttilä

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21279644%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Matt Parton

7

1 reference

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21 January 2020

Bruno Eymard

8

1 reference

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21 January 2020

Arve Dahl

9

1 reference

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21 January 2020

Bjarne Udd

10

1 reference

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21 January 2020

publication date

30 January 2011

1 reference

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21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21279644%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

258

1 reference

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21 January 2020

issue

6

1 reference

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21 January 2020

page(s)

1157-1163

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00415-011-5900-9

21 January 2020

exact match

0 references

cites work

An autosomal dominant early adult-onset distal muscular dystrophy

1 reference

12 December 2020

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]

1 reference

12 December 2020

Autosomal dominant distal myopathy: linkage to chromosome 14.

1 reference

12 December 2020

The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis

1 reference

12 December 2020

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

1 reference

12 December 2020

Follow-up study and response to treatment in 23 patients with Lewis-Sumner syndrome

1 reference

12 December 2020

Early onset chromosome 14-linked distal myopathy (Laing)

1 reference

12 December 2020

Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers

1 reference

12 December 2020

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

1 reference

12 December 2020

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

1 reference

12 December 2020

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

1 reference

12 December 2020

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy

1 reference

12 December 2020

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

1 reference

12 December 2020

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

1 reference

12 December 2020

Investigation of muscle disease

1 reference

12 December 2020

Distal myopathy caused by homozygous missense mutations in the nebulin gene

1 reference

12 December 2020

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

1 reference

12 December 2020

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

1 reference

12 December 2020