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Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.
Vanlander, Arnaud V; Muiño Mosquera, Laura; Panzer, Joseph; Deconinck, Tine; Smet, Joél; Seneca, Sara; Van Dorpe, Jo; Ferdinande, Liesbeth; Ceuterick-de Groote, Chantal; De Jonghe, Peter; Van Coster, Rudy; Baets, Jonathan.
Afiliação
  • Vanlander AV; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, University Hospital Ghent, De Pintelaan 185, B-9000 Ghent, Belgium.
  • Muiño Mosquera L; Department of Pediatrics, Division of Pediatric Cardiology, University Hospital Ghent, De Pintelaan 185, B-9000 Ghent, Belgium.
  • Panzer J; Department of Pediatrics, Division of Pediatric Cardiology, University Hospital Ghent, De Pintelaan 185, B-9000 Ghent, Belgium.
  • Deconinck T; Laboratories of Neurogenetics and Ultrastructural Neuropathology and Biobank, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium; Neurogenetics Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerpen, Belgium.
  • Smet J; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, University Hospital Ghent, De Pintelaan 185, B-9000 Ghent, Belgium.
  • Seneca S; Research Group Reproduction and Genetics (REGE), Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, B-1090 Brussels, Belgium; Center for Medical Genetics, UZ Brussel, Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, B-1090 Brussels, Belgium.
  • Van Dorpe J; Department of Pathology, University Hospital Ghent, De Pintelaan 185, B-9000 Ghent, Belgium.
  • Ferdinande L; Department of Pathology, University Hospital Ghent, De Pintelaan 185, B-9000 Ghent, Belgium.
  • Ceuterick-de Groote C; Laboratories of Neurogenetics and Ultrastructural Neuropathology and Biobank, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium.
  • De Jonghe P; Laboratories of Neurogenetics and Ultrastructural Neuropathology and Biobank, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium; Neurogenetics Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerpen, Belgium; Department of Neuro
  • Van Coster R; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, University Hospital Ghent, De Pintelaan 185, B-9000 Ghent, Belgium. Electronic address: rudy.vancoster@ugent.be.
  • Baets J; Laboratories of Neurogenetics and Ultrastructural Neuropathology and Biobank, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium; Neurogenetics Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerpen, Belgium; Department of Neuro
Mitochondrion ; 27: 32-8, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26855408

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Colina Quinase / Miopatias Mitocondriais / Códon sem Sentido / Membranas Mitocondriais / Distrofias Musculares / Miocárdio Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Mitochondrion Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Bélgica

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Colina Quinase / Miopatias Mitocondriais / Códon sem Sentido / Membranas Mitocondriais / Distrofias Musculares / Miocárdio Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Mitochondrion Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Bélgica