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Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
Bannwarth, Sylvie; Ait-El-Mkadem, Samira; Chaussenot, Annabelle; Genin, Emmanuelle C; Lacas-Gervais, Sandra; Fragaki, Konstantina; Berg-Alonso, Laetitia; Kageyama, Yusuke; Serre, Valérie; Moore, David; Verschueren, Annie; Rouzier, Cécile; Le Ber, Isabelle; Augé, Gaëlle; Cochaud, Charlotte; Lespinasse, Françoise; N'Guyen, Karine; de Septenville, Anne; Brice, Alexis; Yu-Wai-Man, Patrick; Sesaki, Hiromi; Pouget, Jean; Paquis-Flucklinger, Véronique.
Afiliación
  • Bannwarth S; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France.
  • Ait-El-Mkadem S; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France.
  • Chaussenot A; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France.
  • Genin EC; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France.
  • Lacas-Gervais S; 3 Joint Centre for Applied Electron Microscopy, Nice Sophia-Antipolis University, France.
  • Fragaki K; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France.
  • Berg-Alonso L; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France.
  • Kageyama Y; 4 Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
  • Serre V; 5 UMR7592 CNRS, Jacques Monod Institute, Paris Diderot University, France.
  • Moore D; 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Verschueren A; 7 Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France.
  • Rouzier C; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France.
  • Le Ber I; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France 9 National Reference Centre on Rare Dementias, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Augé G; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France.
  • Cochaud C; 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France.
  • Lespinasse F; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France.
  • N'Guyen K; 10 Department of Medical Genetics, Timone Hospital, Marseille Teaching Hospital, France.
  • de Septenville A; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France.
  • Brice A; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France.
  • Yu-Wai-Man P; 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK 11 Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.
  • Sesaki H; 4 Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
  • Pouget J; 7 Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France.
  • Paquis-Flucklinger V; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France paquis@hermes.unice.fr.
Brain ; 138(Pt 9): e377, 2015 Sep.
Article en En | MEDLINE | ID: mdl-25681413
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ADN Mitocondrial / Enfermedades Mitocondriales / Proteínas Mitocondriales / Demencia Frontotemporal / Esclerosis Amiotrófica Lateral / Mitocondrias Límite: Female / Humans / Male Idioma: En Revista: Brain Año: 2015 Tipo del documento: Article País de afiliación: Francia
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ADN Mitocondrial / Enfermedades Mitocondriales / Proteínas Mitocondriales / Demencia Frontotemporal / Esclerosis Amiotrófica Lateral / Mitocondrias Límite: Female / Humans / Male Idioma: En Revista: Brain Año: 2015 Tipo del documento: Article País de afiliación: Francia