(Q54386825)

29 May 2018

title

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). (English)

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29 May 2018

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9

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29 May 2018

Hanns Lochmüller

10

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29 May 2018

author name string

Peter Reilich

1

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29 May 2018

Sabine Krause

2

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29 May 2018

Nicolai Schramm

3

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29 May 2018

Ursula Klutzny

4

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29 May 2018

Stefanie Bulst

5

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29 May 2018

Barbara Zehetmayer

6

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29 May 2018

Peter Schneiderat

7

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29 May 2018

Maggie C Walter

8

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29 May 2018

publication date

20 February 2011

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29 May 2018

published in

Journal of Neurology

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29 May 2018

volume

258

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29 May 2018

issue

8

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29 May 2018

page(s)

1437-1444

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29 May 2018

https://scigraph.springernature.com/pub.10.1007/s00415-011-5953-9

exact match

0 references

cites work

Myotilin is mutated in limb girdle muscular dystrophy 1A

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

myotilin Mutation found in second pedigree with LGMD1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Mutations in myotilin cause myofibrillar myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Myotilinopathy: refining the clinical and myopathological phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Myofibrillar myopathies: a clinical and myopathological guide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Distinct muscle imaging patterns in myofibrillar myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Lower limb radiology of distal myopathy due to the S60F myotilin mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Accounting for human polymorphisms predicted to affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5953-9

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

21 January 2018

1 reference

12 December 2020

Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q

1 reference

12 December 2020

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly

1 reference

12 December 2020

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

12 December 2020

[Immunocytochemical study of the inflammatory forms of facioscapulohumeral myopathies and correlation with other types of myositis]

1 reference

12 December 2020

A method and server for predicting damaging missense mutations

1 reference

12 December 2020

Inflammatory changes in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy

1 reference

12 December 2020

10.1007/S00415-011-5953-9

Identifiers

DOI

1 reference

29 May 2018

release_7dqb26de6jd65dkbiklxutr6ku

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7dqb26de6jd65dkbiklxutr6ku

24 November 2022

mapped directly with Wikidata item

1 reference

29 May 2018