Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2377
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
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
- Urheber
-
Toro, Camilo
- Beteiligte Personen und Organisationen
-
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
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:30 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- 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)
Ähnliche Objekte (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
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
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
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
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
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
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