Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Yaou RB"'
Autor:
Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E
Publikováno v:
Neurology; 2006 Jun 13, Vol. 66 Issue 11, p1721-1726, 6p
Autor:
Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Yaou RB, de Visser M, van der Kooi AJ, Bönnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu M, Pepe G
Publikováno v:
Neurology; 2005 Jun 14, Vol. 64 Issue 11, p1931-1937, 7p
Autor:
Hogrel J, Laforêt P, Yaou RB, Chevrot M, Eymard B, Lombès A, Hogrel, J Y, Laforêt, P, Ben Yaou, R, Chevrot, M, Eymard, B, Lombès, A
Publikováno v:
Neurology; 2001 Jun 26, Vol. 56 Issue 12, p1733-1738, 6p
Autor:
Fayssoil A; Cardiology Department Assistance Publique des Hôpitaux de Paris (AP-HP), Raymond Poincaré Hospital Garches France.; INSERM U1179, END-ICAP Montigny-le-Bretonneux France.; Cardiology Department, Centre de référence des cardiomyopathies et des troubles du rythme cardiaque héréditaires ou rares AP-HP, Ambroise Paré Hospital, Université de Versailles-Saint Quentin (UVSQ) Boulogne-Billancourt France.; Service de Réanimation médicale et unité de ventilation à domicile CHU Raymond Poincaré, APHP, UVSQ Garches France., Mansencal N; Cardiology Department, Centre de référence des cardiomyopathies et des troubles du rythme cardiaque héréditaires ou rares AP-HP, Ambroise Paré Hospital, Université de Versailles-Saint Quentin (UVSQ) Boulogne-Billancourt France.; INSERM U-1018, Centre de recherche en Epidémiologie et Santé des Populations (CESP) Equipe Epidémiologie Clinique, UVSQ Villejuif France., Nguyen LS; Department of Pharmacology Sorbonne University, INSERM CIC Paris-Est, AP-HP, ICAN, Regional Pharmacovigilance Centre, Pitié-Salpêtrière Hospital Paris France.; CMC Ambroise Paré, Research & Innovation (RICAP) Neuilly-sur-Seine France., Nardi O; Service de Réanimation médicale et unité de ventilation à domicile CHU Raymond Poincaré, APHP, UVSQ Garches France., Yaou RB; Institut de Myologie, CHU Pitié Salpetrière Paris France.; Centre de Recherche en Myologie Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, Institut de Myologie, G.H. Pitié Salpêtrière Paris France.; Laboratoire de biochimie et génétique moléculaire hôpital Cochin, AP-HP, université Paris Descartes-Sorbonne Paris Cité Paris France., Leturcq F; Institut de Myologie, CHU Pitié Salpetrière Paris France.; Centre de Recherche en Myologie Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, Institut de Myologie, G.H. Pitié Salpêtrière Paris France.; Laboratoire de biochimie et génétique moléculaire hôpital Cochin, AP-HP, université Paris Descartes-Sorbonne Paris Cité Paris France., Amthor H; Service de Pédiatrie, CHU Raymond Poincaré, APHP Université de Versailles saint Quentin en Yvelines Garches France., Wahbi K; Cardiology Department AP-HP, Cochin Hospital Paris France.; Université Paris Descartes-Sorbonne Paris Cité Paris France., Becane HM; Service de Neurologie CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines Garches France., Lofaso F; Service de Physiologie, Explorations fonctionnelles, CHU Raymond Poincaré, APHP Université de Versailles saint Quentin en Yvelines Garches France., Prigent H; Service de Physiologie, Explorations fonctionnelles, CHU Raymond Poincaré, APHP Université de Versailles saint Quentin en Yvelines Garches France., Bassez G; APHP, Sorbonne Université, Centre de référence neuro musculaire Paris Est Paris France.; Institut de Myologie Hôpital Universitaire Pitié Salpetrière Paris France., Behin A; APHP, Sorbonne Université, Centre de référence neuro musculaire Paris Est Paris France.; Institut de Myologie Hôpital Universitaire Pitié Salpetrière Paris France., Stojkovic T; APHP, Sorbonne Université, Centre de référence neuro musculaire Paris Est Paris France.; Institut de Myologie Hôpital Universitaire Pitié Salpetrière Paris France., Fontaine B; APHP, Sorbonne Université, Centre de référence neuro musculaire Paris Est Paris France.; Institut de Myologie Hôpital Universitaire Pitié Salpetrière Paris France., Duboc D; Cardiology Department AP-HP, Cochin Hospital Paris France.; Université Paris Descartes-Sorbonne Paris Cité Paris France., Dubourg O; Cardiology Department, Centre de référence des cardiomyopathies et des troubles du rythme cardiaque héréditaires ou rares AP-HP, Ambroise Paré Hospital, Université de Versailles-Saint Quentin (UVSQ) Boulogne-Billancourt France., Clair B; Service de Réanimation médicale et unité de ventilation à domicile CHU Raymond Poincaré, APHP, UVSQ Garches France., Laforet P; Service de Neurologie CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines Garches France., Annane D; Service de Réanimation médicale et unité de ventilation à domicile CHU Raymond Poincaré, APHP, UVSQ Garches France., Orlikowski D; Service de Réanimation médicale et unité de ventilation à domicile CHU Raymond Poincaré, APHP, UVSQ Garches France.; Centre d'Investigation clinique et Innovation technologique CIC 14.29, INSERM Garches France.
Publikováno v:
Journal of the American Heart Association [J Am Heart Assoc] 2023 Aug 15; Vol. 12 (16), pp. e027231. Date of Electronic Publication: 2023 Aug 10.
Autor:
Torelli S; From the Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Scaglioni D; From the Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Sardone V; From the Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ellis MJ; From the Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Domingos J; From the Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Jones A; From the Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Feng L; Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Chambers D; From the Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK., Eastwood DM; Department of Orthopaedics, Great Ormond Street Hospital, London, UK.; The Royal National Orthopaedic Hospital, Stanmore and University College London, London, UK., Leturcq F; APHP, Laboratoire de Génétique et Biologie Moléculaire, HUPC Hôpital Cochin, Paris, France., Yaou RB; APHP, Laboratoire de Génétique et Biologie Moléculaire, HUPC Hôpital Cochin, Paris, France.; APHP-Sorbonne Université, Centre de Référence Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.; Sorbonne Université, Inserm, Institut de Myologie, Center de Recherche en Myologie, Paris, France., Urtizberea A; APHP-Hôpital Marin de Hendaye, Hendaye, France., Sabouraud P; CHU de Reims-American Memorial Hospital, Reims, France., Barnerias C; Department of Pediatric Neurology, Necker Enfants Maladies Hospital, Paris, France., Stojkovic T; Sorbonne Université, Inserm, Institut de Myologie, Center de Recherche en Myologie, Paris, France., Ricci E; Institute of Neurology, Catholic University, Rome, Italy., Beuvin M; APHP-Sorbonne Université, Centre de Référence Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France., Bonne G; APHP-Sorbonne Université, Centre de Référence Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France., Sewry CA; Wolfson Centre for Inherited Neuromuscular Diseases and Department of Musculoskeletal Histopathology, RJAH Orthopaedic Hospital, Oswestry, UK., Willis T; Wolfson Centre for Inherited Neuromuscular Diseases and Department of Musculoskeletal Histopathology, RJAH Orthopaedic Hospital, Oswestry, UK., Kulshrestha R; Wolfson Centre for Inherited Neuromuscular Diseases and Department of Musculoskeletal Histopathology, RJAH Orthopaedic Hospital, Oswestry, UK., Tasca G; UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Phadke R; Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Morgan JE; Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology, London, UK.; School of Cancer Sciences, University of Southampton, Southampton, UK., Muntoni F; From the Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publikováno v:
Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2021 Oct 26; Vol. 80 (10), pp. 955-965.
Autor:
Meertens L; Cell Biology of Virus Infection Team, Inserm U944, CNRS UMR 7212, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, 75010 Paris, France., Hafirassou ML; Cell Biology of Virus Infection Team, Inserm U944, CNRS UMR 7212, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, 75010 Paris, France., Couderc T; Biology of Infection Unit, Institut Pasteur, Inserm U1117, Paris, France., Bonnet-Madin L; Cell Biology of Virus Infection Team, Inserm U944, CNRS UMR 7212, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, 75010 Paris, France., Kril V; Cell Biology of Virus Infection Team, Inserm U944, CNRS UMR 7212, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, 75010 Paris, France., Kümmerer BM; Institute of Virology, University of Bonn Medical Centre, Bonn, Germany., Labeau A; Cell Biology of Virus Infection Team, Inserm U944, CNRS UMR 7212, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, 75010 Paris, France., Brugier A; Cell Biology of Virus Infection Team, Inserm U944, CNRS UMR 7212, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, 75010 Paris, France., Simon-Loriere E; G5 Evolutionary Genomics of RNA Viruses, Institut Pasteur, 28 rue du Dr Roux, 75724 Paris, France., Burlaud-Gaillard J; Inserm U1259 MAVIVH et Plateforme IBiSA de Microscopie Electronique, Université de Tours, France., Doyen C; Institut de Génétique Humaine, Laboratoire de Virologie Moléculaire, CNRS-Université de Montpellier, 34000 Montpellier, France., Pezzi L; Unité des Virus Émergents, Aix-Marseille Univ-IRD190-Inserm 1207, EFS-IRBA, 13005 Marseille cedex 05, France., Goupil T; Biology of Infection Unit, Institut Pasteur, Inserm U1117, Paris, France., Rafasse S; Biology of Infection Unit, Institut Pasteur, Inserm U1117, Paris, France., Vidalain PO; Equipe Chimie & Biologie, Modélisation et Immunologie pour la Thérapie, Université Paris Descartes, CNRS UMR 8601, Paris, France., Legout AB; Sorbonne Université, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Gueneau L; Sorbonne Université, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Juntas-Morales R; Département de Neurologie, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Yaou RB; Sorbonne Université, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., Bonne G; Sorbonne Université, INSERM UMRS974, Center of Research in Myology, F-75013 Paris, France., de Lamballerie X; Unité des Virus Émergents, Aix-Marseille Univ-IRD190-Inserm 1207, EFS-IRBA, 13005 Marseille cedex 05, France., Benkirane M; Institut de Génétique Humaine, Laboratoire de Virologie Moléculaire, CNRS-Université de Montpellier, 34000 Montpellier, France., Roingeard P; Inserm U1259 MAVIVH et Plateforme IBiSA de Microscopie Electronique, Université de Tours, France., Delaugerre C; Cell Biology of Virus Infection Team, Inserm U944, CNRS UMR 7212, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, 75010 Paris, France.; Laboratoire de Virologie et Département des Maladies Infectieuses, Hôpital Saint-Louis, APHP, 75010 Paris, France., Lecuit M; Biology of Infection Unit, Institut Pasteur, Inserm U1117, Paris, France.; Université de Paris, Department of Infectious Diseases and Tropical Medicine, Necker-Enfants Malades University Hospital, APHP, Institut Imagine, Paris, France., Amara A; Cell Biology of Virus Infection Team, Inserm U944, CNRS UMR 7212, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, 75010 Paris, France.
Publikováno v:
Comptes rendus biologies [C R Biol] 2021 Apr 21; Vol. 343 (4), pp. 79-89. Date of Electronic Publication: 2021 Apr 21.
Autor:
Atalaia A; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, 75 651, Paris Cedex 13, France. antonio.marques-atalaia@inserm.fr., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Corvo A; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Carmody L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Macaya A; Paediatric Neurology, Vall D'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain., Lochmuller A; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK., Fontaine B; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, 75 651, Paris Cedex 13, France., Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Hernandez-Ferrer C; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Reinhard C; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Gómez-Andrés D; Paediatric Neurology, Vall D'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain., Desaphy JF; Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Schon K; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK., Lohmann K; Institute of Neurogenetics, University of Lübeck, 23538, Lübeck, Germany., Jennings MJ; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK., Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Yaou RB; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, 75 651, Paris Cedex 13, France., Evangelista T; Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.; Sorbonne Université, AP-HP, INSERM, Centre de Référence Des Maladies Neuromusculaires Nord/Est, Ile de France, Paris, France., Ratnaike T; Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, England.; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Bros-Facer V; EURORDIS - Rare Diseases Europe, Paris, France., Gumus G; EURORDIS - Rare Diseases Europe, Paris, France., Horvath R; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK., Chinnery P; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge and MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK., Laurie S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Robinson P; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada., Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Bonne G; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, 75 651, Paris Cedex 13, France.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 22; Vol. 16 (1), pp. 145. Date of Electronic Publication: 2021 Mar 22.
Autor:
Atalaia A; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France. antonio.marques-atalaia@inserm.fr., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Corvo A; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Carmody L; The Jackson Laboratory For Genomic Medicine, Farmington, CT, 06032, USA., Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Macaya A; Paediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain., Lochmuller A; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK., Fontaine B; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France., Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Hernandez-Ferrer C; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Reinhard C; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Gómez-Andrés D; Paediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain., Desaphy JF; Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Schon K; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK., Lohmann K; Institute of Neurogenetics, University of Lübeck, 23538, Lübeck, Germany., Jennings MJ; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK., Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Yaou RB; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France., Evangelista T; Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.; Sorbonne Université, AP-HP, INSERM, Centre de référence Des Maladies Neuromusculaires Nord/Est, Ile de France, Paris, France., Ratnaike T; Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, England.; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Bros-Facer V; EURORDIS - Rare Diseases Europe, Paris, France., Gumus G; EURORDIS - Rare Diseases Europe, Paris, France., Horvath R; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK., Chinnery P; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge and MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK., Laurie S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Robinson P; The Jackson Laboratory For Genomic Medicine, Farmington, CT, 06032, USA., Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada., Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Bonne G; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 12; Vol. 15 (1), pp. 206. Date of Electronic Publication: 2020 Aug 12.
Autor:
Waldrop MA; The Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA.; Departments of Neurology and Pediatrics, The Ohio State University, Columbus, OH, USA., Yaou RB; Center of Research in Myology, Sorbonne Université - Inserm UMRS 974; Databases unit; APHP, Nord/Est/Ile-de-France Neuromuscular reference center, Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France., Lucas KK; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Martin AS; Parent Project Muscular Dystrophy, Hackensack, NJ, USA., O'Rourke E; Sarepta Therapeutics, Inc., Cambridge, MA, USA., Ferlini A; U.O. Genetica Medica, Azienda Ospedaliero-Universitaria di Ferrara., Muntoni F; Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom., Leturcq F; APHP, Laboratoire de Génétique et Biologie Moléculaires, HUPC Hôpital Cochin, Paris, France; Center of Research in Myology, Sorbonne Université - Inserm UMRS 974., Tuffery-Giraud S; Université de Montpellier, Laboratoire de Génétique de Maladies Rares, Montpellier, France., Weiss RB; Department of Human Genetics, The University of Utah, Salt Lake City, UT, USA., Flanigan KM; The Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA.; Departments of Neurology and Pediatrics, The Ohio State University, Columbus, OH, USA.
Publikováno v:
Journal of neuromuscular diseases [J Neuromuscul Dis] 2020; Vol. 7 (3), pp. 217-229.