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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
Ng, Yi Shiau; Lax, Nichola Z; Maddison, Paul; Alston, Charlotte L; Blakely, Emma L; Hepplewhite, Philippa D; Riordan, Gillian; Meldau, Surita; Chinnery, Patrick F; Pierre, Germaine; Chronopoulou, Efstathia; Du, Ailian; Hughes, Imelda; Morris, Andrew A; Kamakari, Smaragda; Chrousos, Georgia; Rodenburg, Richard J; Saris, Christiaan G J; Feeney, Catherine; Hardy, Steven A; Sakakibara, Takafumi; Sudo, Akira; Okazaki, Yasushi; Murayama, Kei; Mundy, Helen; Hanna, Michael G; Ohtake, Akira; Schaefer, Andrew M; Champion, Mike P; Turnbull, Doug M; Taylor, Robert W; Pitceathly, Robert D S; McFarland, Robert; Gorman, Gráinne S.
Afiliación
  • Ng YS; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Lax NZ; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Maddison P; Department of Neurology, Queen's Medical Centre, Nottingham, UK.
  • Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Blakely EL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Hepplewhite PD; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Riordan G; Paediatric Neurology Department, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
  • Meldau S; Division of Chemical Pathology, Faculty of Health Sciences, University of Cape Town, South Africa; National Health Laboratory Service, Cape Town, South Africa.
  • Chinnery PF; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK; Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.
  • Pierre G; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
  • Chronopoulou E; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
  • Du A; Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
  • Hughes I; Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK.
  • Morris AA; Institute of Human Development, University of Manchester, Manchester M13 9WL, UK; Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Kamakari S; Ophthalmic Genetics Unit, OMMA, Institute of Ophthalmology, Athens, Greece.
  • Chrousos G; Pediatric Ophthalmology Department, MITERA Children's Hospital, Athens, Greece.
  • Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Saris CGJ; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Feeney C; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Hardy SA; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Sakakibara T; Department of Pediatrics, Nara Medical University Hospital, Nara 634-8522, Japan.
  • Sudo A; Department of Pediatrics, Sapporo City General Hospital, Sapporo 060-8604, Japan.
  • Okazaki Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba 266-0007, Japan.
  • Mundy H; Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
  • Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
  • Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Schaefer AM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Champion MP; Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
  • Turnbull DM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Pitceathly RDS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
  • McFarland R; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Gorman GS; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK. Electronic address: grainne.gorman@ncl.ac.uk.
EBioMedicine ; 30: 86-93, 2018 Apr.
Article en En | MEDLINE | ID: mdl-29506874
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encéfalo / Proteínas Mitocondriales / Complejo I de Transporte de Electrón / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: EBioMedicine Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encéfalo / Proteínas Mitocondriales / Complejo I de Transporte de Electrón / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: EBioMedicine Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido