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Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Oláhová, Monika; Ceccatelli Berti, Camilla; Collier, Jack J; Alston, Charlotte L; Jameson, Elisabeth; Jones, Simon A; Edwards, Noel; He, Langping; Chinnery, Patrick F; Horvath, Rita; Goffrini, Paola; Taylor, Robert W; Sayer, John A.
Afiliação
  • Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Ceccatelli Berti C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Collier JJ; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Jameson E; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Jones SA; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Edwards N; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • He L; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Chinnery PF; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.
  • Horvath R; Department of Clinical Neurosciences, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  • Goffrini P; Department of Clinical Neurosciences, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  • Taylor RW; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Sayer JA; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Hum Mol Genet ; 28(22): 3766-3776, 2019 11 15.
Article em En | MEDLINE | ID: mdl-31435670
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complexo III da Cadeia de Transporte de Elétrons / Doenças Mitocondriais / ATPases Associadas a Diversas Atividades Celulares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Infant / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complexo III da Cadeia de Transporte de Elétrons / Doenças Mitocondriais / ATPases Associadas a Diversas Atividades Celulares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Infant / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido