Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Bonne, Gisèle"'
Autor:
Hathazi D; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, CB2 0PY, UK., Cox D; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK., D'Amico A; Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, 00146 Rome, Italy., Tasca G; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy., Charlton R; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK., Carlier RY; AP-HP, Service d'Imagerie Médicale, Raymond Poincaré Hospital, 92380 Garches, France.; Inserm U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ), 78180 Versailles, France., Baumann J; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany., Kollipara L; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany., Zahedi RP; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.; Segal Cancer Proteomics Centre, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, QC H3T 1E2, Canada., Feldmann I; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH) (A.B., J.F.D.), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', 80138 Napoli, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy., Cohn R; SickKids Research Institute, Department of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON M5G 0A4, Canada., Robinson E; Department of molecular Physiology and Cell Signalling, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, L69 7BE, UK., Ricci F; Department of molecular Physiology and Cell Signalling, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, L69 7BE, UK., Jungbluth H; Guy's and St Thomas' NHS Trust, King's College London, London, SE1 7EH, UK., Fattori F; Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, 00146 Rome, Italy., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH) (A.B., J.F.D.), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., O'Connor E; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada., Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, CB2 0PY, UK., Barresi R; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, 79095 Freiburg, Germany., Urtizberea A; Hôpital Marin de Hendaye, 64701 Hendaye, France., Jacquemont ML; Unité de Génétique Médicale, Pôle Femme-Mère-Enfant, Groupe Hospitalier Sud Réunion, CHU de La Réunion, 97410 La Réunion, France., Nelson I; Sorbonne Université, Inserm UMRS974, Centre de Recherche en Myologie, Institut de Myologie, 75013 Paris, France., Swan L; Department of molecular Physiology and Cell Signalling, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, L69 7BE, UK., Bonne G; Sorbonne Université, Inserm UMRS974, Centre de Recherche en Myologie, Institut de Myologie, 75013 Paris, France., Roos A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada.; Department of Pediatric Neurology, University Hospital Essen, University of Duisburg-Essen, Faculty of Medicine, 45147 Essen, Germany.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Sep 04; Vol. 144 (8), pp. 2427-2442.
Autor:
Owens DJ; Center for Research in Myology, Sorbonne Université, INSERM UMRS_974, 75013 Paris, France.; Research Institute for Sport and Exercise Science, Liverpool John Moores University, Liverpool L3 3AF, UK., Messéant J; Center for Research in Myology, Sorbonne Université, INSERM UMRS_974, 75013 Paris, France., Moog S; Inovarion, 75005 Paris, France., Viggars M; Research Institute for Sport and Exercise Science, Liverpool John Moores University, Liverpool L3 3AF, UK., Ferry A; Center for Research in Myology, Sorbonne Université, INSERM UMRS_974, 75013 Paris, France.; Université de Paris, 75006 Paris, France., Mamchaoui K; Center for Research in Myology, Sorbonne Université, INSERM UMRS_974, 75013 Paris, France.; Neuromuscular Morphology Unit, Institute of Myology, Pitié-Salpêtrière Hospital, 75013 Paris, France., Lacène E; Neuromuscular Morphology Unit, Institute of Myology, Pitié-Salpêtrière Hospital, 75013 Paris, France., Roméro N; Neuromuscular Morphology Unit, Institute of Myology, Pitié-Salpêtrière Hospital, 75013 Paris, France.; APHP, Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, Institute of Myology, 75013 Paris, France., Brull A; Center for Research in Myology, Sorbonne Université, INSERM UMRS_974, 75013 Paris, France., Bonne G; Center for Research in Myology, Sorbonne Université, INSERM UMRS_974, 75013 Paris, France., Butler-Browne G; Center for Research in Myology, Sorbonne Université, INSERM UMRS_974, 75013 Paris, France., Coirault C; Center for Research in Myology, Sorbonne Université, INSERM UMRS_974, 75013 Paris, France.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2020 Dec 30; Vol. 22 (1). Date of Electronic Publication: 2020 Dec 30.
Autor:
Gómez-Domínguez D; Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Ctra. Majadahonda-Pozuelo km2.2, E-28029 Madrid, Spain., Epifano C; Fundación Andrés Marcio, niños contra la laminopatía, C/Núñez de Balboa, 11, E-28001 Madrid, Spain., Miguel F; Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Ctra. Majadahonda-Pozuelo km2.2, E-28029 Madrid, Spain.; Universidad Europea de Madrid, C/ Tajo, s/n, E-28670 Villaviciosa de Odón, Spain., Castaño AG; Institute for Bioengineering of Catalonia (IBEC), C/Baldiri Reixac, 10-12, E-08028 Barcelona, Spain., Vilaplana-Martí B; Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Ctra. Majadahonda-Pozuelo km2.2, E-28029 Madrid, Spain., Martín A; Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Ctra. Majadahonda-Pozuelo km2.2, E-28029 Madrid, Spain., Amarilla-Quintana S; Fundación de Investigación HM Hospitales, Plaza del Conde Valle Suchil, 2, E-28015 Madrid, Spain., Bertrand AT; Sorbonne Université, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, 75013 Paris, France., Bonne G; Sorbonne Université, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, 75013 Paris, France., Ramón-Azcón J; Institute for Bioengineering of Catalonia (IBEC), C/Baldiri Reixac, 10-12, E-08028 Barcelona, Spain.; ICREA-Institució Catalana de Recerca i Estudis Avançats, 08010 Barcelona, Spain., Rodríguez-Milla MA; Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Ctra. Majadahonda-Pozuelo km2.2, E-28029 Madrid, Spain., Pérez de Castro I; Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Ctra. Majadahonda-Pozuelo km2.2, E-28029 Madrid, Spain.
Publikováno v:
Cells [Cells] 2020 May 21; Vol. 9 (5). Date of Electronic Publication: 2020 May 21.
Autor:
Earle AJ; Meinig School of Biomedical Engineering & Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA., Kirby TJ; Meinig School of Biomedical Engineering & Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA., Fedorchak GR; Meinig School of Biomedical Engineering & Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA., Isermann P; Meinig School of Biomedical Engineering & Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA., Patel J; Meinig School of Biomedical Engineering & Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA., Iruvanti S; Meinig School of Biomedical Engineering & Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA., Moore SA; Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Bonne G; Sorbonne Université, Inserm UMRS 974, Center of Research in Myology, Association Institute of Myology, Paris, France., Wallrath LL; Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Lammerding J; Meinig School of Biomedical Engineering & Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA. jan.lammerding@cornell.edu.
Publikováno v:
Nature materials [Nat Mater] 2020 Apr; Vol. 19 (4), pp. 464-473. Date of Electronic Publication: 2019 Dec 16.
Autor:
Chatzifrangkeskou M; Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Yadin D; Institute for Chemistry and Biochemistry, Freie Universität Berlin, 14195 Berlin, Germany., Marais T; Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Chardonnet S; Sorbonne Université, UPMC Paris 06, INSERM, UMS29 Omique, F-75013 Paris, France., Cohen-Tannoudji M; Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Mougenot N; Sorbonne Université, UPMC Paris 06, INSERM, UMS28 Phénotypage du Petit Animal, Paris F-75013, France., Schmitt A; Institut Cochin, INSERM U1016-CNRS UMR 8104, Université Paris Descartes-Sorbonne Paris Cité, Paris F-75014, France., Crasto S; Istituto Clinico Humanitas IRCCS, Milan, Italy.; Istituto Ricerca Genetica e Biomedica, National Research Council of Italy, Milan 20089, Italy., Di Pasquale E; Istituto Clinico Humanitas IRCCS, Milan, Italy.; Istituto Ricerca Genetica e Biomedica, National Research Council of Italy, Milan 20089, Italy., Macquart C; Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Tanguy Y; Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Jebeniani I; Faculté de Médecine La Timone, Université Aix-Marseille, INSERM UMR910, Marseille 13005, France., Pucéat M; Faculté de Médecine La Timone, Université Aix-Marseille, INSERM UMR910, Marseille 13005, France., Morales Rodriguez B; Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Goldmann WH; Department of Physics, Friedrich-Alexander-University of Erlangen-Nuremberg, 91054 Erlangen, Germany., Dal Ferro M; Cardiovascular Department, Ospedali Riuniti and University of Trieste, Trieste, Italy., Biferi MG; Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Knaus P; Institute for Chemistry and Biochemistry, Freie Universität Berlin, 14195 Berlin, Germany., Bonne G; Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Worman HJ; Department of Medicine.; Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA., Muchir A; Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2018 Sep 01; Vol. 27 (17), pp. 3060-3078.
Autor:
Janin A; University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France. alexandre.janin01@chu-lyon.fr.; Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, F-69677, Bron, France. alexandre.janin01@chu-lyon.fr., Bauer D; University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France., Ratti F; University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France., Valla C; University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France., Bertrand A; Sorbonne Université, INSERM UMRS_974, Center of Research in Myology, 75013, Paris, France., Christin E; University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France., Chopin E; Centre de Biotechnologie Cellulaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, F-69677, Bron, France., Streichenberger N; University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France.; Centre de Neuropathologie Est, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, F-69677, Bron, France., Bonne G; Sorbonne Université, INSERM UMRS_974, Center of Research in Myology, 75013, Paris, France., Gache V; University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France., Cohen T; Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, 20010, USA., Méjat A; University of Lyon, University of Lyon1 Claude Bernard Lyon1, Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France. alexandre.mejat@ens-lyon.fr.
Publikováno v:
Scientific reports [Sci Rep] 2018 Apr 04; Vol. 8 (1), pp. 5618. Date of Electronic Publication: 2018 Apr 04.
Autor:
Bauché S; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France., O'Regan S; Membrane transport group, Neurophotonics Laboratory, CNRS UMR8250, Sorbonne Paris Cité-Paris Descartes University, 75005 Paris, France., Azuma Y; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK., Laffargue F; Service de Génétique Médicale, Centre de référence Auvergne-Limousin, Neuropathies Périphériques Rares et Maladies Neuromusculaires, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France., McMacken G; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK., Sternberg D; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Brochier G; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Unité de pathologies neuromusculaires, Institut de Myologie, Sorbonne Universités, UPMC Université Paris 06 UMRS 974, Inserm U974, CNRS UMR 7215, 75013 Paris, France., Buon C; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France., Bouzidi N; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France., Topf A; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK., Lacène E; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Unité de pathologies neuromusculaires, Institut de Myologie, Sorbonne Universités, UPMC Université Paris 06 UMRS 974, Inserm U974, CNRS UMR 7215, 75013 Paris, France., Remerand G; Service de Néonatologie, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France., Beaufrere AM; Service d'Anatomie et Cytologie pathologiques, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France., Pebrel-Richard C; Service de Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, 63000 Clermont-Ferrand, France., Thevenon J; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France., El Chehadeh-Djebbar S; Service de génétique médicale, Institut de génétique médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 67098 Strasbourg, France., Faivre L; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France., Duffourd Y; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France., Ricci F; Center for Neuromuscular Diseases, Child Neurology and Psychiatry Unit, Regina Margherita Children Hospital, and Department of Neurosciences, University of Torino, 10124 Torino, Italy., Mongini T; Center for Neuromuscular Diseases, Child Neurology and Psychiatry Unit, Regina Margherita Children Hospital, and Department of Neurosciences, University of Torino, 10124 Torino, Italy., Fiorillo C; Molecular Medicine, IRCCS Fondazione Stella Maris, Calambrone, 56018 Pisa, Italy., Astrea G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, 56018 Pisa, Italy., Burloiu CM; Alexandru Obregia Clinical Hospital, sos Berceni 10-12, 041914 Bucharest, Romania., Butoianu N; Alexandru Obregia Clinical Hospital, sos Berceni 10-12, 041914 Bucharest, Romania., Sandu C; Alexandru Obregia Clinical Hospital, sos Berceni 10-12, 041914 Bucharest, Romania., Servais L; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Myology Institute, 75013 Paris, France., Bonne G; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Myology Institute, 75013 Paris, France., Nelson I; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Myology Institute, 75013 Paris, France., Desguerre I; Centre de Référence des Maladies Neuromusculaires de l'Ouest Parisien, Hôpital Necker-Enfants Malades, 75743 Paris, France., Nougues MC; Neuropédiatrie et Unité d'électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l'EST parisien et DHU I2B, Hôpital d'Enfants Armand Trousseau, 75012 Paris, France., Bœuf B; Service de réanimation néonatale et pédiatrique Hôpital Estaing CHU de Clermont Ferrand, 63000 Clermont-Ferrand, France., Romero N; Unité de pathologies neuromusculaires, Institut de Myologie, Sorbonne Universités, UPMC Université Paris 06 UMRS 974, Inserm U974, CNRS UMR 7215, 75013 Paris, France., Laporte J; Departement Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, Inserm U 964, 67404 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France., Boland A; Centre National de Génotypage (CNG), 91057 Evry, France., Lechner D; Centre National de Génotypage (CNG), 91057 Evry, France., Deleuze JF; Centre National de Génotypage (CNG), 91057 Evry, France., Fontaine B; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Strochlic L; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France., Lochmuller H; The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK., Eymard B; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France; AP-HP, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Myology Institute, 75013 Paris, France., Mayer M; Neuropédiatrie et Unité d'électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l'EST parisien et DHU I2B, Hôpital d'Enfants Armand Trousseau, 75012 Paris, France., Nicole S; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France. Electronic address: sophie.nicole@inserm.fr.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2016 Sep 01; Vol. 99 (3), pp. 753-761. Date of Electronic Publication: 2016 Aug 25.
Autor:
Gargaun E; I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France., Seferian AM; I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France., Cardas R; I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France., Le Moing AG; I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France., Delanoe C; Neurological Function Test EMG/EEG Robert Debré Hospital, Paris, France., Nectoux J; Molecular Genetics and Biochemistry Unit, HUPC Cochin Hospital, Paris, France., Nelson I; Sorbonne University, UPMC Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, 75013, Paris, France., Bonne G; Sorbonne University, UPMC Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, 75013, Paris, France., Bihoreau MT; National Center of Genotyping, Institute of Genomics, CEA, Evry, France., Deleuze JF; National Center of Genotyping, Institute of Genomics, CEA, Evry, France., Boland A; National Center of Genotyping, Institute of Genomics, CEA, Evry, France., Masson C; Bioinformatic Platform, Imagine Institute, Sorbonne University, Paris-Descartes, Paris, France., Servais L; I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France., Gidaro T; I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France. t.gidaro@institut-myologie.org.
Publikováno v:
Journal of neurology [J Neurol] 2016 Jul; Vol. 263 (7), pp. 1456-8. Date of Electronic Publication: 2016 May 09.
Autor:
Malfatti E; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France., Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB
Publikováno v:
Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2013 Sep; Vol. 72 (9), pp. 833-45.
Autor:
Arimura T; Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, 1-5-45 Bunkyo-Ku, Tokyo 113-8510, Japan., Onoue K, Takahashi-Tanaka Y, Ishikawa T, Kuwahara M, Setou M, Shigenobu S, Yamaguchi K, Bertrand AT, Machida N, Takayama K, Fukusato M, Tanaka R, Somekawa S, Nakano T, Yamane Y, Kuba K, Imai Y, Saito Y, Bonne G, Kimura A
Publikováno v:
Cardiovascular research [Cardiovasc Res] 2013 Aug 01; Vol. 99 (3), pp. 382-94. Date of Electronic Publication: 2013 Apr 30.