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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2377

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins ; volume:13 ; number:1 ; day:20 ; month:3 ; year:2013 ; pages:1-14 ; date:12.2013
BMC neurology ; 13, Heft 1 (20.3.2013), 1-14, 12.2013

Creator: Toro, Camilo

Contributor: Olivé, Montse
Dalakas, Marinos C.
Sivakumar, Kumaraswami
Bilbao, Juan M.
Tyndel, Felix
Vidal, Noemí
Farrero, Eva
Sambuughin, Nyamkhishig
Goldfarb, Lev G.
SpringerLink (Online service)

DOI: 10.1186/1471-2377-13-29

URN: urn:nbn:de:1111-2016030331936

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:30 AM CEST

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Associated

Toro, Camilo
Olivé, Montse
Dalakas, Marinos C.
Sivakumar, Kumaraswami
Bilbao, Juan M.
Tyndel, Felix
Vidal, Noemí
Farrero, Eva
Sambuughin, Nyamkhishig
Goldfarb, Lev G.
SpringerLink (Online service)

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Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

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New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

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Hereditary myopathy with early respiratory failure: case report

Hereditary myopathy with early respiratory failure: occurrence in various populations

Urine TITIN N-fragment as a novel biomarker for critical illness myopathy: a pilot study

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

Exome sequencing in hereditary nephropathies

Hereditary myopathy with early respiratory failure: case report

Hereditary myopathy with early respiratory failure: occurrence in various populations

Urine TITIN N-fragment as a novel biomarker for critical illness myopathy: a pilot study

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

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

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Other Objects (12)

Exome sequencing in hereditary nephropathies

Hereditary myopathy with early respiratory failure: case report

Hereditary myopathy with early respiratory failure: occurrence in various populations

Urine TITIN N-fragment as a novel biomarker for critical illness myopathy: a pilot study

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

Exome sequencing in hereditary nephropathies

Hereditary myopathy with early respiratory failure: case report

Hereditary myopathy with early respiratory failure: occurrence in various populations

Urine TITIN N-fragment as a novel biomarker for critical illness myopathy: a pilot study

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

Exome sequencing in hereditary nephropathies

Hereditary myopathy with early respiratory failure: case report

Hereditary myopathy with early respiratory failure: occurrence in various populations

Urine TITIN N-fragment as a novel biomarker for critical illness myopathy: a pilot study

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

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