Your browser doesn't support javascript.
loading
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Bacalhau, Mafalda; Simões, Marta; Rocha, Mariana C; Hardy, Steven A; Vincent, Amy E; Durães, João; Macário, Maria C; Santos, Maria João; Rebelo, Olinda; Lopes, Carla; Pratas, João; Mendes, Cândida; Zuzarte, Mónica; Rego, A Cristina; Girão, Henrique; Wong, Lee-Jun C; Taylor, Robert W; Grazina, Manuela.
Afiliación
  • Bacalhau M; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Simões M; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Rocha MC; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, UK.
  • Hardy SA; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, UK.
  • Vincent AE; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, UK.
  • Durães J; CHUC - Neurology Department of Coimbra University Hospitals, Coimbra, Portugal.
  • Macário MC; CHUC - Neurology Department of Coimbra University Hospitals, Coimbra, Portugal.
  • Santos MJ; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Rebelo O; CHUC - Neurology Department of Coimbra University Hospitals, Coimbra, Portugal.
  • Lopes C; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
  • Pratas J; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Mendes C; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Zuzarte M; IBILI - Institute for Biomedical Imaging and Life Sciences, University of Coimbra, Coimbra, Portugal.
  • Rego AC; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
  • Girão H; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; IBILI - Institute for Biomedical Imaging and Life Sciences, University of Coimbra, Coimbra, Portugal.
  • Wong LC; Mitochondrial Diagnostic Laboratory, Baylor College of Medicine, Houston, USA.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, UK.
  • Grazina M; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal. Electronic address: mgrazina.fmuc@gmail.com.
Neuromuscul Disord ; 28(4): 350-360, 2018 04.
Article en En | MEDLINE | ID: mdl-29398297
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Succinato Deshidrogenasa / ADN Mitocondrial / Eliminación de Secuencia / Mutación Límite: Female / Humans / Middle aged Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Succinato Deshidrogenasa / ADN Mitocondrial / Eliminación de Secuencia / Mutación Límite: Female / Humans / Middle aged Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Reino Unido