(Q35986692)

11 August 2017

Titin mutation segregates with hereditary myopathy with early respiratory failure (English)

1 reference

11 August 2017

Gerald Pfeffer

1

0 references

Helen Griffin

Helen Griffin

3

0 references

Rita Horvath

Rita Horvath

12

0 references

Volker Straub

10

Volker Straub

1 reference

11 August 2017

Mauro Santibanez-Korev

13

Mauro Santibanez-Koref

1 reference

11 August 2017

15

Patrick F Chinnery

1 reference

11 August 2017

2

Hannah R Elliott

1 reference

11 August 2017

4

Rita Barresi

1 reference

11 August 2017

14

Bjarne Udd

1 reference

11 August 2017

James Miller

5

1 reference

11 August 2017

Julie Marsh

6

1 reference

11 August 2017

Anni Evilä

7

1 reference

11 August 2017

Anna Vihola

8

1 reference

11 August 2017

Peter Hackman

9

1 reference

11 August 2017

David J Dick

11

1 reference

11 August 2017

language of work or name

English

0 references

publication date

9 May 2012

1 reference

11 August 2017

1 reference

11 August 2017

135

1 reference

11 August 2017

Pt 6

1 reference

11 August 2017

1695-1713

1 reference

Truncations of titin causing dilated cardiomyopathy.

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

2 October 2017

Myofibrillar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Dindel: accurate indel calls from short-read data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

MutationTaster evaluates disease-causing potential of sequence alterations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Neuromuscular imaging in inherited muscle diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Fast and accurate long-read alignment with Burrows-Wheeler transform

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

ALS with respiratory onset: clinical features and effects of non-invasive ventilation on the prognosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Titin-based mechanical signalling in normal and failing myocardium

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

The Sequence Alignment/Map format and SAMtools

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Pompe disease: a neuromuscular disease with respiratory muscle involvement

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Molecular pathology of myofibrillar myopathies.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Neuromuscular disease and respiratory failure

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Respiratory failure as a first presentation of myasthenia gravis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

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 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Allegro, a new computer program for multipoint linkage analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Muscle assembly: a titanic achievement?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Atypical Myopathy With Myofibrillar Aggregates

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Single molecule force spectroscopy of the cardiac titin N2B element: effects of the molecular chaperone alphaB-crystallin with disease-causing mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

p62/SQSTM1 is overexpressed and prominently accumulated in inclusions of sporadic inclusion-body myositis muscle fibers, and can help differentiating it from polymyositis and dermatomyositis.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

A case of asymptomatic cytoplasmic body myopathy revealed by sinvastatin

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Alpha B-crystallin mutation in dilated cardiomyopathy

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS102

Involvement of respiratory muscles in cytoplasmic body myopathy — A pathological study—

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS102

Myopathy with respiratory failure and typical myofibrillar lesions

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359754

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

14 November 2018

1 reference

12 December 2020

A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci

1 reference

12 December 2020

Life-threatening respiratory failure due to a previously undescribed myopathy

1 reference

12 December 2020

[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency]

1 reference

12 December 2020

Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity

1 reference

12 December 2020

Dominantly inherited cytoplasmic body myopathy in a Japanese kindred

1 reference

12 December 2020

Familial desmin myopathies and cytoplasmic body myopathies

1 reference

12 December 2020

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWS102

1 reference

11 August 2017

1 reference

11 August 2017

1 reference