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Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Chaouch, Amina; Porcelli, Vito; Cox, Daniel; Edvardson, Shimon; Scarcia, Pasquale; De Grassi, Anna; Pierri, Ciro L; Cossins, Judith; Laval, Steven H; Griffin, Helen; Müller, Juliane S; Evangelista, Teresinha; Töpf, Ana; Abicht, Angela; Huebner, Angela; von der Hagen, Maja; Bushby, Kate; Straub, Volker; Horvath, Rita; Elpeleg, Orly; Palace, Jacqueline; Senderek, Jan; Beeson, David; Palmieri, Luigi; Lochmüller, Hanns.
Afiliación
  • Chaouch A; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Porcelli V; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, Bari, Italy.
  • Cox D; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Scarcia P; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, Bari, Italy.
  • De Grassi A; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, Bari, Italy.
  • Pierri CL; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, Bari, Italy.
  • Cossins J; Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Headley Way, Oxford, UK.
  • Laval SH; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Griffin H; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Müller JS; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Evangelista T; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Töpf A; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Abicht A; Medizinisch Genetisches Zentrum, Munich, Germany ; Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany.
  • Huebner A; Children's Hospital, Technical University Dresden, Dresden, Germany.
  • von der Hagen M; Children's Hospital, Technical University Dresden, Dresden, Germany.
  • Bushby K; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Straub V; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Horvath R; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Palace J; Department of Clinical Neurology, The John Radcliffe, Oxford, UK.
  • Senderek J; Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany.
  • Beeson D; Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Headley Way, Oxford, UK.
  • Palmieri L; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, Bari, Italy ; CNR Institute of Biomembranes and Bioenergetics, Bari, Italy.
  • Lochmüller H; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
J Neuromuscul Dis ; 1(1): 75-90, 2014.
Article en En | MEDLINE | ID: mdl-26870663
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Neuromuscul Dis Año: 2014 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Neuromuscul Dis Año: 2014 Tipo del documento: Article País de afiliación: Reino Unido