(Q37637049)

21 August 2017

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease (English)

1 reference

21 August 2017

9

Emmanuelle Uro-Coste

0 references

Michael Gotthardt

Michael Gotthardt

21

0 references

Steven A Moore

Steven A Moore

20

0 references

Haluk Topaloglu

19

Haluk Topaloglu

1 reference

21 August 2017

Mathias Gautel

23

0 references

Philippe Maury

Philippe Maury

7

0 references

author name string

Claire Chauveau

1

1 reference

21 August 2017

Carsten G Bonnemann

2

1 reference

21 August 2017

Cedric Julien

3

1 reference

21 August 2017

Ay Lin Kho

4

1 reference

21 August 2017

Harold Marks

5

1 reference

21 August 2017

Beril Talim

6

1 reference

21 August 2017

Marie Christine Arne-Bes

8

1 reference

21 August 2017

Alexander Alexandrovich

10

1 reference

21 August 2017

Anna Vihola

11

1 reference

21 August 2017

Sebastian Schafer

12

1 reference

21 August 2017

Beth Kaufmann

13

1 reference

21 August 2017

Livija Medne

14

1 reference

21 August 2017

Norbert Hübner

15

1 reference

21 August 2017

A Reghan Foley

16

1 reference

21 August 2017

Mariarita Santi

17

1 reference

21 August 2017

Bjarne Udd

18

1 reference

21 August 2017

Mark E Samuels

22

1 reference

21 August 2017

Ana Ferreiro

24

1 reference

21 August 2017

8 October 2013

1 reference

21 August 2017

Human Molecular Genetics

1 reference

21 August 2017

23

1 reference

21 August 2017

4

1 reference

21 August 2017

980-991

1 reference

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Cardiomyopathy in neurological disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Truncations of titin causing dilated cardiomyopathy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Arthrogryposis: a review and update

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Mechanoenzymatics of titin kinase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

M line-deficient titin causes cardiac lethality through impaired maturation of the sarcomere

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Titin mutations as the molecular basis for dilated cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Cardiac involvement in primary myopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Structural basis for activation of the titin kinase domain during myofibrillogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

The structure of the sarcomeric M band: localization of defined domains of myomesin, M-protein, and the 250-kD carboxy-terminal region of titin by immunoelectron microscopy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

A regular pattern of two types of 100-residue motif in the sequence of titin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Nuclear localization of the titin Z1Z2Zr domain and role in regulating cell proliferation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Multicore myopathy with restrictive cardiomyopathy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Multicore myopathy: not always a benign entity.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Dilated cardiomyopathy in multicore myopathy

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Hereditary myopathy with early respiratory failure: occurrence in various populations

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Tibial muscular dystrophy in a Belgian family

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3954110

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT494

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

21 January 2018

1 reference

12 December 2020

Multiple congenital contractures: birth prevalence, etiology, and outcome

1 reference

12 December 2020

Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers

1 reference

12 December 2020

Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy

1 reference

12 December 2020

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDT494

1 reference

21 August 2017

1 reference

21 August 2017

1 reference