(Q38325462)

2 September 2017

title

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin (English)

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2 September 2017

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9

Tommy Martinsson

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2 September 2017

Monica Ohlsson

1

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2 September 2017

Carola Hedberg

2

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2 September 2017

Björn Brådvik

3

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2 September 2017

Christopher Lindberg

4

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2 September 2017

Homa Tajsharghi

5

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2 September 2017

Olof Danielsson

6

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2 September 2017

Atle Melberg

7

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2 September 2017

Bjarne Udd

8

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2 September 2017

Anders Oldfors

10

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2 September 2017

language of work or name

English

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publication date

9 May 2012

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2 September 2017

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2 September 2017

volume

135

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2 September 2017

issue

Pt 6

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2 September 2017

page(s)

1682-1694

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The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

The structure of the FnIII Tandem A77-A78 points to a periodically conserved architecture in the myosin-binding region of titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

The giant protein titin: a regulatory node that integrates myocyte signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

Titins: giant proteins in charge of muscle ultrastructure and elasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

The kinase domain of titin controls muscle gene expression and protein turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

Cytoplasmic body myopathy. Report on a family and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

21 January 2018

Myofibrillar myopathies

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS103

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWS103

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2 September 2017

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