Zobrazeno 1 - 10
of 1 090
pro vyhledávání: '"Urtizberea JA"'
Autor:
Urtizberea JA; Institut de Myologie, Paris, France., Severa G; Institut de Myologie, Paris, France., Ropars J; Institut de Myologie, Paris, France., Malfatti E; Institut de Myologie, Paris, France.
Publikováno v:
Medecine sciences : M/S [Med Sci (Paris)] 2023 Nov; Vol. 39 Hors série n° 1, pp. 37-46. Date of Electronic Publication: 2023 Nov 17.
Autor:
Schuermans N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.; Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d'Alsace (IGMA), Université de Strasbourg et INSERM, Strasbourg, France., Hemelsoet D; Department of Neurology, Ghent University Hospital, Ghent, Belgium., Gautheron J; Sorbonne Université, INSERM UMRS_938, Centre de Recherche Saint-Antoine (CRSA), Paris, France., Vantyghem MC; Endocrinology, Diabetology, Metabolism Department, National Competence Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Lille University Hospital, Lille, France.; University of Lille, INSERM U1190, European Genomic Institute for Diabetes, Lille, France., Nouioua S; Department of Neurology of the EHS of Cherchell, University Centre of Blida, Tipaza, Algeria.; NeuroSciences Research Laboratory, University of Algiers Benyoucef Benkhedda, Algiers, Algeria., Tazir M; NeuroSciences Research Laboratory, University of Algiers Benyoucef Benkhedda, Algiers, Algeria.; Department of Neurology, CHU Algiers (Mustapha Pacha Hospital), Algiers, Algeria., Vigouroux C; Sorbonne Université, INSERM UMRS_938, Centre de Recherche Saint-Antoine (CRSA), Paris, France.; Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Diabetology and Reproductive Endocrinology, and Department of Molecular Biology and Genetics, Paris, France., Auclair M; Sorbonne Université, INSERM UMRS_938, Centre de Recherche Saint-Antoine (CRSA), Paris, France.; Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Diabetology and Reproductive Endocrinology, and Department of Molecular Biology and Genetics, Paris, France., Bogaert E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Dufour S; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; VIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.; VIB Proteomics Core, VIB, Ghent, Belgium., Okawa F; Department of Biochemistry and Molecular Biology, Graduate School and Faculty of Medicine, The University of Tokyo, Bunkyo, Japan., Hilbert P; Department of Molecular and Cellular Biology, Institute of Pathology and Genetics, Charleroi, Belgium., Van Doninck N; Department of Endocrinology and Diabetology, General Hospital VITAZ, Sint-Niklaas, Belgium., Taquet MC; Department of Internal Medicine and Nutrition, Hopitaux Universitaires Strasbourg, Strasbourg, France., Rosseel T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., De Clercq G; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Debackere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Van Haverbeke C; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Cherif FR; Department of Neurology of the EHS of Cherchell, University Centre of Blida, Tipaza, Algeria.; NeuroSciences Research Laboratory, University of Algiers Benyoucef Benkhedda, Algiers, Algeria., Urtizberea JA; Institut de Myologie, Paris, France., Chanson JB; Service de Neurologie et Centre de Référence Neuromusculaire Nord/Est/Ile de France, Hôpital de Hautepierre, Strasbourg, France., Funalot B; Department of Medical Genetics, Hôpital Henri Mondor, Université Paris-Est-Créteil, Créteil, France.; INSERM UMR955, Team Relaix, Faculty of Medicine, Créteil, France., Authier FJ; INSERM UMR955, Team Relaix, Faculty of Medicine, Créteil, France.; Centre Expert de Pathologie Neuromusculaire/Histologie, Département de Pathologie, Hôpital Henri Mondor, Université Paris-Est-Créteil, Créteil, France., Kaya S; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany., Terryn W; Department of Nephrology, Jan Yperman Hospital, Ieper, Belgium., Callens S; Department of General Internal Medicine, Ghent University Hospital, Ghent, Belgium., Depypere B; Department of Plastic and Reconstructive Surgery, Ghent University Hospital, Ghent, Belgium., Van Dorpe J; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Poppe B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Impens F; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; VIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.; VIB Proteomics Core, VIB, Ghent, Belgium., Mizushima N; Department of Biochemistry and Molecular Biology, Graduate School and Faculty of Medicine, The University of Tokyo, Bunkyo, Japan., Depienne C; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany., Jéru I; Sorbonne Université, INSERM UMRS_938, Centre de Recherche Saint-Antoine (CRSA), Paris, France.; Department of Medical Genetics, DMU BioGeM, Sorbonne Université, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Dermaut B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bart.dermaut@ugent.be.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium. bart.dermaut@ugent.be.
Publikováno v:
Nature genetics [Nat Genet] 2023 Nov; Vol. 55 (11), pp. 1929-1940. Date of Electronic Publication: 2023 Nov 02.
Autor:
Babaee M; Physical medicine and rehabilitation research center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Urtizberea JA; Institut de Myologie, Hopital de la Salpetriere, Paris, France., Fatehi F; Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran., Rayegani SM; Physical medicine and rehabilitation research center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Publikováno v:
Iranian journal of child neurology [Iran J Child Neurol] 2023 Fall; Vol. 17 (4), pp. 9-22. Date of Electronic Publication: 2023 Oct 26.
Autor:
Urtizberea JA; Institut de Myologie, la Pitié-Salpétrière Hospital, 75013 Paris, France., Severa G; Department of Medical, Surgical and Neurological Sciences, Neurology-Neurophysiology Unit, University of Siena, Policlinico Le Scotte, Viale Bracci 1, 5310 Siena, Italy.; Université Paris Est, U955, IMRB, INSERM, APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, 94000 Créteil, France., Malfatti E; Université Paris Est, U955, IMRB, INSERM, APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, 94000 Créteil, France.
Publikováno v:
Genes [Genes (Basel)] 2023 Apr 22; Vol. 14 (5). Date of Electronic Publication: 2023 Apr 22.
Autor:
Díaz-Manera J; John Walton Muscular Dystrophy Research Centre, Newcastle University International Centre for Life, Newcastle upon Tyne, United Kingdom. Electronic address: jordi.diaz-manera@newcastle.ac.uk., Urtizberea JA; Institute of Myology, Pitié Salpêtrière University Hospital, Paris, France., Schey C; Department of Epidemiology, University of Groningen, Groningen, the Netherlands., Kole A; admedicum® Business for Patients GmbH & Co KG, Cologne, Germany., von Gallwitz P; admedicum® Business for Patients GmbH & Co KG, Cologne, Germany., Whiting A; admedicum® Business for Patients GmbH & Co KG, Cologne, Germany., Foerster D; Lupin Neurosciences, Zug, Switzerland., Zozulya-Weidenfeller A; Lupin Neurosciences, Zug, Switzerland.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Feb; Vol. 33 (2), pp. 208-217. Date of Electronic Publication: 2022 Dec 15.
Autor:
Vezain M; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France., Thauvin-Robinet C; INSERM UMR1231 GAD-Génétique des Anomalies du Développement, Bourgogne Franche-Comté University, F-21000 , Dijon, France.; Genetics Center, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, F-21000, Dijon, France., Vial Y; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.; Genetics Department, AP-HP, Robert-Debré University Hospital, 48 boulevard Sérurier, 75019 , Paris, France., Coutant S; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France., Drunat S; INSERM UMR 1141, PROTECT, Paris University, F-75019, Paris, France.; Genetics Department, AP-HP, Robert-Debré University Hospital, F-75019, Paris, France., Urtizberea JA; Myology Institute, AP-HP Pitié-Salpêtrière University Hospital, F-75013, Paris, France., Rolland A; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Pediatrics Department, Valence Hospital, 179 boulevard du Maréchal Juin, 26000, Valence, France., Jacquin-Piques A; Department of Neurology, Clinical Neurophysiology, Competence Center of Neuromuscular Diseases, Dijon-Burgundy University Hospital, F-21000, Dijon, France., Fehrenbach S; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France., Nicolas G; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France., Lecoquierre F; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France., Saugier-Veber P; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France. Pascale.Saugier-Veber@chu-rouen.fr.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France. Pascale.Saugier-Veber@chu-rouen.fr.; Laboratoire de Génétique Moléculaire, UFR-Santé, 22 boulevard Gambetta, 76183, Rouen, France. Pascale.Saugier-Veber@chu-rouen.fr.
Publikováno v:
Human genetics [Hum Genet] 2023 Jan; Vol. 142 (1), pp. 125-138. Date of Electronic Publication: 2022 Sep 23.
Autor:
Gromand M; Department of Pediatrics, University Hospital Félix Guyon, La Réunion, France., Gueguen P; Department of Medical Genetics, University Hospital Félix Guyon, La Réunion, France., Pervillé A; Children Hospital, St Denis, La Réunion, France., Ferroul F; Department of Medical Genetics, University Hospital Félix Guyon, La Réunion, France., Morel G; Department of Medical Genetics, University Hospital Félix Guyon, La Réunion, France., Harouna A; Department of Gynecology, Mamoudzou Hospital, Mayotte, France., Doray B; Department of Medical Genetics, University Hospital Félix Guyon, La Réunion, France., Urtizberea JA; Centre de Compétence Neuromusculaire, FILNEMUS, Hôpital Marin, Hendaye, France., Alessandri JL; Department of Medical Genetics, University Hospital Félix Guyon, La Réunion, France. Electronic address: jean-luc.alessandri@chu-reunion.fr., Robin S; Department of Pediatrics, University Hospital Félix Guyon, La Réunion, France.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2022 Oct; Vol. 65 (10), pp. 104598. Date of Electronic Publication: 2022 Aug 25.
Autor:
Cerino M; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, 13005 Marseille, France., González-Hormazábal P; Programa de Genética Humana, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago 8380492, Chile., Abaji M; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, 13005 Marseille, France., Courrier S; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, 13005 Marseille, France., Puppo F; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, 13005 Marseille, France., Mathieu Y; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, 13005 Marseille, France., Trangulao A; Programa de Genética Humana, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago 8380492, Chile.; Unidad Neuromuscular, Departamento Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago 8380492, Chile.; Unidad de Patología Neuromuscular, Departamento de Neurología y Neurocirugía, Clínica Dávila, Santiago 8431657, Chile.; Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile, Santiago 8380456, Chile., Earle N; Unidad de Patología Neuromuscular, Departamento de Neurología y Neurocirugía, Clínica Dávila, Santiago 8431657, Chile., Castiglioni C; Unidad de Neurología, Departamento de Pediatría, Clínica Las Condes, Santiago 7591047, Chile., Díaz J; Centro de Imagenología, Hospital Clínico Universidad de Chile, Santiago 8380492, Chile., Campero M; Unidad Neuromuscular, Departamento Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago 8380492, Chile., Hughes R; Unidad Neuromuscular, Departamento Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago 8380492, Chile., Vargas C; Neurología Pediátrica Hospital Roberto del Río, Universidad de Chile, Santiago 8380492, Chile., Cortés R; Unidad de Neurología, Departamento de Pediatría, Clínica Las Condes, Santiago 7591047, Chile.; Neurología Pediátrica Hospital Roberto del Río, Universidad de Chile, Santiago 8380492, Chile., Kleinsteuber K; Unidad de Neurología, Departamento de Pediatría, Clínica Las Condes, Santiago 7591047, Chile.; Neurología Pediátrica Hospital Roberto del Río, Universidad de Chile, Santiago 8380492, Chile., Acosta I; Unidad de Patología Neuromuscular, Departamento de Neurología y Neurocirugía, Clínica Dávila, Santiago 8431657, Chile., Urtizberea JA; Institut de Myologie, Hôpital de la Pitié-Salpêtrière, 75013 Paris, France., Lévy N; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, 13005 Marseille, France.; Department of Medical Genetics, Hôpital Timone Enfants, APHM, 13385 Marseille, France., Bartoli M; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, 13005 Marseille, France., Krahn M; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, 13005 Marseille, France.; Department of Medical Genetics, Hôpital Timone Enfants, APHM, 13385 Marseille, France., Jara L; Programa de Genética Humana, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago 8380492, Chile., Caviedes P; Programa de Farmacología Molecular y Clínica, ICBM, Facultad de Medicina, Universidad de Chile, Santiago 8380492, Chile.; Centro de Biotecnología y Bioingeniería (CeBiB), Departamento de Ingeniería Química, Biotecnología y Biomateriales, Facultad de Ciencias Físicas y Matemáticas, Universidad de Chile, Santiago 8380492, Chile., Gorokhova S; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, 13005 Marseille, France.; Department of Medical Genetics, Hôpital Timone Enfants, APHM, 13385 Marseille, France., Bevilacqua JA; Unidad Neuromuscular, Departamento Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago 8380492, Chile.; Unidad de Patología Neuromuscular, Departamento de Neurología y Neurocirugía, Clínica Dávila, Santiago 8431657, Chile.; Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile, Santiago 8380456, Chile.
Publikováno v:
Genes [Genes (Basel)] 2022 Jun 16; Vol. 13 (6). Date of Electronic Publication: 2022 Jun 16.
Autor:
Lostal, W, Urtizberea, Ja, Richard, I, Alonso-Jiménez, A, Carlier, Ry, Carson, V, Diaz-Manera, J, Eymard, BRUNO, MICHEL, ANTOINE, JOSEPH, MARIE, Fardeau, M, Gourlay, Ml, Guglieri, M, Hogrel, Jy, Kullmann, B, Levy, J1, Ono, Y, Prigent, H, Saenz, A, Semplicini, C, Vainzof, M, Vissing, J, Walter, M.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b5735b0b0bb1f6b148d9f66f04d67e2f
http://hdl.handle.net/11577/3280811
http://hdl.handle.net/11577/3280811
Autor:
Urtizberea JA; Enseignant, Institut de Myologie, Paris, France., Kaplan JC; Ancien professeur émérite, Faculté de Médecine de Cochin, Paris, France.
Publikováno v:
Medecine sciences : M/S [Med Sci (Paris)] 2020 Dec; Vol. 36 Hors série n° 2, pp. 38-50. Date of Electronic Publication: 2021 Jan 11.