Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Fauret-Amsellem AL"'
Autor:
Sapaly D; University Paris Cité & Inserm UMR_S1124, 75270, Paris Cedex 06, France., Cheguillaume F; University Paris Cité & Inserm UMR_S1124, 75270, Paris Cedex 06, France., Weill L; University Paris Cité & Inserm UMR_S1124, 75270, Paris Cedex 06, France., Clerc Z; University Paris Cité & Inserm UMR_S1124, 75270, Paris Cedex 06, France., Biondi O; University Paris Cité & Inserm UMR_S1124, 75270, Paris Cedex 06, France.; Laboratoire de Biologie de l'Exercice pour la Performance et la Santé (LBEPS), UMR, Université d'Evry, IRBA, Université de Paris Saclay, 91025 Evry-Courcouronnes, France., Bendris S; University Paris Cité & Inserm UMR_S1124, 75270, Paris Cedex 06, France., Buon C; Myology Center For Research, UMRS974, Sorbonne University, INSERM, 75013 Paris, France., Slika R; University Paris Cité & Inserm UMR_S1124, 75270, Paris Cedex 06, France., Piller E; University Paris Cité & Inserm UMR_S1124, 75270, Paris Cedex 06, France., Sundaram VK; Paul Flechsig Institute - Centre of Neuropathology and Brain Research, Faculty of Medicine, University of Leipzig, 04103, Leipzig, Germany., da Silva Ramos A; Paul Flechsig Institute - Centre of Neuropathology and Brain Research, Faculty of Medicine, University of Leipzig, 04103, Leipzig, Germany., Amador MDM; Sorbonne Université, APHP, Inserm, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, Pitié-Salpêtrière Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences, 75013 Paris, France.; APHP, Genetic department, Pitié-Salpêtrière University Hospital, 75013 Paris, France., Lenglet T; Sorbonne Université, APHP, Inserm, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, Pitié-Salpêtrière Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences, 75013 Paris, France.; Neurophysiology Department, APHP, Pitié-Salpêtrière Hospital, 75013 Paris, France., Debs R; Neurophysiology Department, APHP, Pitié-Salpêtrière Hospital, 75013 Paris, France., Le Forestier N; Sorbonne Université, APHP, Inserm, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, Pitié-Salpêtrière Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences, 75013 Paris, France.; Espaces Régional IdF et National de Réflexion Éthique-Maladies Neuro Évolutives, Université Paris Sud/Paris Saclay, 75010 Paris, France., Pradat PF; Sorbonne Université, APHP, Inserm, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, Pitié-Salpêtrière Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences, 75013 Paris, France., Salachas F; Sorbonne Université, APHP, Inserm, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, Pitié-Salpêtrière Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences, 75013 Paris, France., Lacomblez L; Sorbonne Université, APHP, Inserm, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, Pitié-Salpêtrière Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences, 75013 Paris, France., Hesters A; Sorbonne Université, APHP, Inserm, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, Pitié-Salpêtrière Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences, 75013 Paris, France., Borderie D; Department of Biochemistry, APHP, Cochin Hospital, 75014 Paris, France.; Faculty of Pharmacy, University Paris Cité & Inserm UMR_S1124, 75006 Paris, France., Devos D; Pharmacology Department, University Hospital of Lille, Lille University, INSERM UMRS_1172, LICEND, 59000 Lille, France.; Alliance on Clinical Trials for ALS-MND (ACT4ALS-MND), Neuroscience Clinical Investigation Center, Paris Brain Institute, 75013 Paris, France., Desnuelle C; Alliance on Clinical Trials for ALS-MND (ACT4ALS-MND), Neuroscience Clinical Investigation Center, Paris Brain Institute, 75013 Paris, France.; Pasteur 2 Hospital - CHU de Nice, 06000 Nice, France., Rolland AS; Pharmacology Department, University Hospital of Lille, Lille University, INSERM UMRS_1172, LICEND, 59000 Lille, France., Periou B; Créteil Paris Est University, INSERM, IMRB U955, and Reference centre for rare neuromuscular diseases, AP-HP, Henri Mondor Hospital 94010, 94010 Créteil, France., Vasseur S; MyoBank AFM-Institut de Myologie, 75013 Paris, France., Chapart M; MyoBank AFM-Institut de Myologie, 75013 Paris, France., Le Ber I; Reference centre for rare dementias, AP-HP, Pitié-Salpêtrière Hospital, 75013 Paris, France., Fauret-Amsellem AL; Functional Unit of Cellular and Molecular Neurogenetics, Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, 75013 Paris, France., Millecamps S; Sorbonne University, Paris Brain Institute, ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière Hospital, DMU Neuroscience 6, 75013 Paris, France., Maisonobe T; Department of Neuropathology, Sorbonne University, APHP, Pitié-Salpêtrière Hospital, 75013 Paris, France., Leonard-Louis S; Department of Neuropathology, Sorbonne University, APHP, Pitié-Salpêtrière Hospital, 75013 Paris, France., Behin A; Reference Center for Muscle Diseases Paris-Est, Myology Institute, AP-HP, Pitié-Salpêtrière Hospital, 75013 Paris, France., Authier FJ; Créteil Paris Est University, INSERM, IMRB U955, and Reference centre for rare neuromuscular diseases, AP-HP, Henri Mondor Hospital 94010, 94010 Créteil, France., Evangelista T; Department of Neuropathology, Sorbonne University, APHP, Pitié-Salpêtrière Hospital, 75013 Paris, France.; Reference Center for Muscle Diseases Paris-Est, Myology Institute, AP-HP, Pitié-Salpêtrière Hospital, 75013 Paris, France., Charbonnier F; University Paris Cité & Inserm UMR_S1124, 75270, Paris Cedex 06, France., Bruneteau G; Myology Center For Research, UMRS974, Sorbonne University, INSERM, 75013 Paris, France.; Sorbonne Université, APHP, Inserm, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, Pitié-Salpêtrière Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences, 75013 Paris, France.; Alliance on Clinical Trials for ALS-MND (ACT4ALS-MND), Neuroscience Clinical Investigation Center, Paris Brain Institute, 75013 Paris, France.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Aug 28. Date of Electronic Publication: 2024 Aug 28.
Autor:
Méreaux JL; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Davoine CS; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom., Coarelli G; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Coutelier M; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Ewenczyk C; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Monin ML; Centre de Reference Maladies Rares « Neurogénétique », Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), 33000, Bordeaux, France., Anheim M; Department of Neurology, Strasbourg University Hospital, 67098, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, 67400, Illkirch-Graffenstaden, France., Le Ber I; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Thobois S; Department of Neurology C, Expert Parkinson Centre NS-Park/F-CRIN, Hospices Civils de Lyon, Pierre Wertheimer Neurological Hospital, 69677, Bron, France; Marc Jeannerod Cognitive Neuroscience Institute, CNRS, UMR 5229, Bron, France; Faculté de Médecine Et de Maïeutique Lyon Sud Charles Mérieux, Université Claude Bernard Lyon 1, Université de Lyon, Lyon, France., Gobert F; Neuro-Intensive Care Unit, Hospices Civils de Lyon, Neurological Hospital Pierre-Wertheimer, Lyon, France; University Lyon I, Villeurbanne, France., Guillot-Noël L; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Forlani S; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Jornea L; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Heinzmann A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Sangare A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Department of Neurophysiology, University Hospital Group APHP-Sorbonne University, Pitié-Salpêtrière Site, Paris, France., Gaymard B; Department of Neurophysiology, University Hospital Group APHP-Sorbonne University, Pitié-Salpêtrière Site, Paris, France., Guyant-Maréchal L; Neurophysiology Department, Rouen University Hospital, Rouen, France; Medical Genetics Department, Rouen University Hospital, Rouen, France., Charles P; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Marelli C; MMDN, University Montpellier, EPHE, INSERM and Expert Center for Neurogenetic Diseases, CHU, 34095, Montpellier, France., Honnorat J; Reference Center for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, MeLiS Institute UMR CNRS 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France., Degos B; Neurology Department, Avicenne Hospital, APHP, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Sorbonne Paris Nord, Réseau NS-PARK/FCRIN, Bobigny, France., Tison F; Institut des Maladies Neurodégénératives-Clinique (IMNc), University Hospital Bordeaux, Bordeaux, France; Institut des Maladies Neurodégénératives, CNRS, UMR 5293, Bordeaux University, Bordeaux, France., Sangla S; Neurology Department, Hôpital Fondation Adolphe de Rothschild, Paris, France., Simonetta-Moreau M; Department of Neurology, University Hospital of Toulouse, 31300, Toulouse, France; Toulouse NeuroImaging Center (ToNIC), Inserm, UPS, Université de Toulouse, 31024, Toulouse, France; Clinical Investigation Center (CIC 1436), Toulouse University Hospital, INSERM, 31059, Toulouse, France., Salachas F; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Département de Neurologie, Assistance Publique Hôpitaux de Paris (APHP), Centre de Référence SLA Ile de France, Hôpital de la Pitié-Salpêtrière, Paris, France., Tchikviladzé M; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Castelnovo G; Department of Neurology, Nîmes University Hospital, Hopital Caremeau, Nîmes, France., Mochel F; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany., Castrioto A; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Neurology Department, 38000, Grenoble, France., Fenu S; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Méneret A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Département de Neurologie, Hôpital de la Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris (APHP), Paris, France., Bourdain F; Service de Neurologie, Centre Hospitalier de la Côte Basque, Bayonne, France., Wandzel M; Laboratoire de Génétique Médicale, CHRU Nancy, Université de Lorraine, INSERM UMR_S1256, NGERE, Nancy, France., Roth V; Laboratoire de Génétique Médicale, CHRU Nancy, Université de Lorraine, INSERM UMR_S1256, NGERE, Nancy, France., Bonnet C; Laboratoire de Génétique Médicale, CHRU Nancy, Université de Lorraine, INSERM UMR_S1256, NGERE, Nancy, France., Riant F; Service de Génétique Moléculaire Neurovasculaire, AP-HP, Saint Louis Hospital, Paris, France., Stevanin G; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Bordeaux University (Université de Bordeaux), Equipe « Neurogénétique Translationnelle - NRGEN », INCIA CNRS UMR5287, EPHE, 33000, Bordeaux, France., Noël S; Unité de Neurogénétique Moléculaire et Cellulaire, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Fauret-Amsellem AL; Unité de Neurogénétique Moléculaire et Cellulaire, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Bahlo M; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Department of Medical Biology, University of Melbourne, Parkville, VIC, 3052, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia., Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada., Renaud M; Service de Génétique Clinique et de Neurologie, Hôpital Brabois, Nancy, France; INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine, Nancy, France., Brice A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France. Electronic address: alexandra.durr@icm-institute.org.
Publikováno v:
EBioMedicine [EBioMedicine] 2024 Jan; Vol. 99, pp. 104931. Date of Electronic Publication: 2023 Dec 27.
Autor:
Méreaux JL; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Davoine CS; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Coutelier M; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Guillot-Noël L; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Castrioto A; Department of Neurology, University Hospital Centre Grenoble Alpes, Grenoble, France., Charles P; Genetics Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Coarelli G; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Ewenczyk C; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany., Heinzmann A; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Méneret A; Neurology Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Fauret-Amsellem AL; Molecular and Cellular Neurogenetics Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., de Sainte Agathe JM; Molecular and Cellular Neurogenetics Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Brice A; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Durr A; Sorbonne University, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France alexandra.durr@icm-institute.org.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 717-721. Date of Electronic Publication: 2023 Jan 04.
Autor:
Tezenas du Montcel S; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis. sophie.tezenas@aphp.fr., Petit E; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Olubajo T; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Faber J; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Lallemant-Dudek P; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Bushara K; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Perlman S; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Subramony SH; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Morgan D; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Jackman B; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Figueroa; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Pulst SM; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Fauret-Amsellem AL; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Dufke C; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Paulson HL; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Öz G; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Klockgether T; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Durr A; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis., Ashizawa T; From the Sorbonne Universite (S.T.d.M., E.P., P.L.-D., A.D.), Paris Brain Institute, Inserm, INRIA, CNRS, APHP, France; The Houston Methodist Research Institute (T.O., T.A.), TX; Department of Neurology (J.F., T.K.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., T.K.), Bonn, Germany; Department of Neurology (K.B.), University of Minnesota, Minneapolis; University of California, Los Angeles (S.P.); Norman Fixel Center for Neurological Disorders (S.H.S.), College of Medicine, University of Florida, Gainesville; Department of Translational Neuroscience (D.M., B.J.), Michigan State University, Grand Rapids; Department of Neurology (K.P.F., S.M.P.), University of Utah, Salt Lake City; Functional Unit of Cellular and Molecular Neurogenetics (A.-L.F.-A.), Genetic Department, AP-HP Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France; Institute of Medical Genetics and Applied Genomics (C.D.), University of Tubingen, Tübingen, Germany; Department of Neurology (H.L.P.), University of Michigan, Ann Arbor; and Center for Magnetic Resonance Research (G.O.), Department of Radiology, University of Minnesota, Minneapolis.
Publikováno v:
Neurology [Neurology] 2023 Apr 25; Vol. 100 (17), pp. e1836-e1848. Date of Electronic Publication: 2023 Feb 16.
Autor:
Casse F; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France., Courtin T; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France.; AP-HP, Hôpital de la Pitié Salpêtrière, U.F. de Neurogénétique Moléculaire et Cellulaire Paris France., Tesson C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France., Ferrien M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France., Noël S; AP-HP, Hôpital de la Pitié Salpêtrière, U.F. de Neurogénétique Moléculaire et Cellulaire Paris France., Fauret-Amsellem AL; AP-HP, Hôpital de la Pitié Salpêtrière, U.F. de Neurogénétique Moléculaire et Cellulaire Paris France., Gareau T; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France., Guegan J; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France., Anheim M; Service de Neurologie Hôpitaux Universitaires de Strasbourg Strasbourg France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé Et de la Recherche Médicale-U964/Centre National de la Recherche Scientifique-UMR7104/Université de Strasbourg Illkirch-Graffenstaden France.; Université de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg Strasbourg France., Mariani LL; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France.; Département de Neurologie AP-HP, Hôpital de la Pitié Salpêtrière Paris France., Le Forestier N; Département de Neurologie AP-HP, Hôpital de la Pitié Salpêtrière Paris France., Tranchant C; Service de Neurologie Hôpitaux Universitaires de Strasbourg Strasbourg France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé Et de la Recherche Médicale-U964/Centre National de la Recherche Scientifique-UMR7104/Université de Strasbourg Illkirch-Graffenstaden France.; Université de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg Strasbourg France., Corvol JC; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France.; Département de Neurologie AP-HP, Hôpital de la Pitié Salpêtrière Paris France., Lesage S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France., Brice A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225 Paris France.
Publikováno v:
Movement disorders clinical practice [Mov Disord Clin Pract] 2023 Mar 07; Vol. 10 (4), pp. 664-669. Date of Electronic Publication: 2023 Mar 07 (Print Publication: 2023).
Autor:
Passone CGB; Department of Endocrinology, Metabolism and Diabetes, Inserm U1016, Cochin Institute, Paris, France.; Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Pathologies Gynécologiques Rares et des Maladies Endocriniennes Rares de la Croissance et du Développement, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France., Vermillac G; Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Pathologies Gynécologiques Rares et des Maladies Endocriniennes Rares de la Croissance et du Développement, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France., Staels W; Department of Endocrinology, Metabolism and Diabetes, Inserm U1016, Cochin Institute, Paris, France.; Beta Cell Neogenesis (BENE) Research Group, Vrije Universiteit Brussel (VUB), Brussels, Belgium.; Division of Pediatric Endocrinology, Department of Pediatrics, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel (VUB), Brussels, Belgium., Besancon A; Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Pathologies Gynécologiques Rares et des Maladies Endocriniennes Rares de la Croissance et du Développement, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France., Kariyawasam D; Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Pathologies Gynécologiques Rares et des Maladies Endocriniennes Rares de la Croissance et du Développement, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France.; Imagine Institute, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France., Godot C; Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Pathologies Gynécologiques Rares et des Maladies Endocriniennes Rares de la Croissance et du Développement, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France., Lambe C; Pediatric Gastroentherology Hepatology and Nutrition Unit, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France., Talbotec C; Pediatric Gastroentherology Hepatology and Nutrition Unit, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France.; INSERM UMR S 1139, Faculté de Pharmacie de Paris, Université de Paris, Paris, France., Girard M; Hepatology Unit, Hôpital Universitaire Necker Enfants Malades, Université de Paris, Inserm U1151, Centre de Référence Maladie rares Atresie des voies biliaires et cholestases génétiques et Filière de soin Filfoie, Paris, France., Chardot C; Pediatric Surgery Department, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France., Berteloot L; Pediatric Radiology Department, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France/INSERM U1163, Institut Imagine, Paris, France., Hachem T; Neonatal Intensive Care Unit, Hôpital Universitaire Necker Enfants Malades, EHU 7328 Université Paris Descartes, Paris, France., Lapillonne A; Neonatal Intensive Care Unit, Hôpital Universitaire Necker Enfants Malades, EHU 7328 Université Paris Descartes, Paris, France., Poidvin A; Université Paris Cité, Hôpital Universitaire Robert-Debré, Service d'Endocrinologie Diabétologie Pédiatrique et CRMR Prisis, Paris, France., Storey C; Université Paris Cité, Hôpital Universitaire Robert-Debré, Service d'Endocrinologie Diabétologie Pédiatrique et CRMR Prisis, Paris, France., Neve M; Pediatric Department Hôpital d'Enfants de Margency Croix-Rouge française, Margency, France., Stan C; Pediatric Department Hôpital d'Enfants de Margency Croix-Rouge française, Margency, France., Dugelay E; Department of Pediatric Gastroenterology and Nutrition, Hôpital Universitaire Robert-Debré, Paris, France., Fauret-Amsellem AL; Genetic Department, Hopital Universitaire Robert Debré, Paris, France., Capri Y; Genetic Department, Hopital Universitaire Robert Debré, Paris, France., Cavé H; Genetic Department, Hopital Universitaire Robert Debré, Paris, France., Ybarra M; Research Center of Sainte Justine University Hospital, Université de Montréal, Montreal, QC, Canada., Chandra V; Department of Endocrinology, Metabolism and Diabetes, Inserm U1016, Cochin Institute, Paris, France.; Biomedicum Stem Cell Center, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Scharfmann R; Department of Endocrinology, Metabolism and Diabetes, Inserm U1016, Cochin Institute, Paris, France., Bismuth E; Université Paris Cité, Hôpital Universitaire Robert-Debré, Service d'Endocrinologie Diabétologie Pédiatrique et CRMR Prisis, Paris, France., Polak M; Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Pathologies Gynécologiques Rares et des Maladies Endocriniennes Rares de la Croissance et du Développement, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France., Carel JC; Université Paris Cité, Hôpital Universitaire Robert-Debré, Service d'Endocrinologie Diabétologie Pédiatrique et CRMR Prisis, Paris, France., Pigneur B; Pediatric Gastroentherology Hepatology and Nutrition Unit, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France., Beltrand J; Department of Endocrinology, Metabolism and Diabetes, Inserm U1016, Cochin Institute, Paris, France.; Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Pathologies Gynécologiques Rares et des Maladies Endocriniennes Rares de la Croissance et du Développement, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France.; Imagine Institute, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Jun 22; Vol. 13, pp. 802351. Date of Electronic Publication: 2022 Jun 22 (Print Publication: 2022).
Autor:
Mouler M; The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Lebenthal Y; The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., de Vries L; The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Yackobovitch-Gavan M; The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Averbuch NS; The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Fauret-Amsellem AL; Department of Genetics, Hôpital Universitaire Robert Debré, Assistance Publique-Hôpitaux de Paris, Université Paris-Diderot, Paris, France., Cavé H; Department of Genetics, Hôpital Universitaire Robert Debré, Assistance Publique-Hôpitaux de Paris, Université Paris-Diderot, Paris, France., Beltrand J; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, IMAGINE Institute, INSERM U1016, Paris, France., Polak M; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, IMAGINE Institute, INSERM U1016, Paris, France., Phillip M; The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Nimri R; The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Publikováno v:
Pediatric diabetes [Pediatr Diabetes] 2022 Feb; Vol. 23 (1), pp. 45-54. Date of Electronic Publication: 2021 Dec 06.
Autor:
Muratet F; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France., Teyssou E; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France., Chiot A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France., Boillée S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France., Lobsiger CS; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France., Bohl D; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France., Gyorgy B; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France., Guegan J; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France., Marie Y; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France., Amador MDM; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France.; AP-HP, Département de Neurologie, Centre de référence SLA Ile de France, Hôpital de la Pitié-Salpêtrière, Paris, Île de France, France., Salachas F; AP-HP, Département de Neurologie, Centre de référence SLA Ile de France, Hôpital de la Pitié-Salpêtrière, Paris, Île de France, France., Meininger V; Hôpital des Peupliers, Ramsay General Health Group, Paris, Île-de-France, France., Bernard E; Centre de référence SLA, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Université de Lyon, Bron, Auvergne-Rhône-Alpes, France.; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon I, Lyon, Auvergne-Rhône-Alpes, France., Antoine JC; Service de Neurologie, Centre de Ressource et de Compétence SLA, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, Rhône-Alpes, France., Camdessanché JP; Service de Neurologie, Centre de Ressource et de Compétence SLA, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, Rhône-Alpes, France., Camu W; Centre de référence SLA, Hôpital Gui de Chauliac, CHU de Montpellier, Université de Montpellier, Montpellier, Languedoc-Roussillon, France., Cazeneuve C; Département de Génétique et Cytogénétique, Unité Fonctionnelle de neurogénétique moléculaire et cellulaire, APHP, Hôpital Pitié-Salpêtrière, Paris, Île-de-France, France., Fauret-Amsellem AL; Département de Génétique et Cytogénétique, Unité Fonctionnelle de neurogénétique moléculaire et cellulaire, APHP, Hôpital Pitié-Salpêtrière, Paris, Île-de-France, France., Leguern E; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France.; Département de Génétique et Cytogénétique, Unité Fonctionnelle de neurogénétique moléculaire et cellulaire, APHP, Hôpital Pitié-Salpêtrière, Paris, Île-de-France, France., Mouzat K; Laboratoire de Biochimie et Biologie Moleculaire, CHU Nimes, Nîmes, Languedoc-Roussillon, France.; Motoneuron Disease: Pathophysiology and Therapy, INM, INSERM, Université de Montpellier, Montpellier, Languedoc-Roussillon, France., Guissart C; Laboratoire de Biochimie et Biologie Moleculaire, CHU Nimes, Nîmes, Languedoc-Roussillon, France.; Motoneuron Disease: Pathophysiology and Therapy, INM, INSERM, Université de Montpellier, Montpellier, Languedoc-Roussillon, France., Lumbroso S; Laboratoire de Biochimie et Biologie Moleculaire, CHU Nimes, Nîmes, Languedoc-Roussillon, France.; Motoneuron Disease: Pathophysiology and Therapy, INM, INSERM, Université de Montpellier, Montpellier, Languedoc-Roussillon, France., Corcia P; Centre de référence SLA, Département de Neurologie, CHRU Tours, Tours, Centre-Val de Loire, France.; UMR 1253, Université de Tours, Inserm, Tours, Centre-Val de Loire, France., Vourc'h P; UMR 1253, Université de Tours, Inserm, Tours, Centre-Val de Loire, France.; Service de Biochimie et Biologie Moléculaire, CHU Tours, Tours, Centre-Val de Loire, France., Grapperon AM; Centre de Référence pour les Maladies Neuromusculaire et la SLA, Hôpital de la Timone, Assistance Publique Hôpitaux de Marseille, CHU de Marseille, Marseille, Provence-Alpes-Côte d'Azur, France., Attarian S; Centre de Référence pour les Maladies Neuromusculaire et la SLA, Hôpital de la Timone, Assistance Publique Hôpitaux de Marseille, CHU de Marseille, Marseille, Provence-Alpes-Côte d'Azur, France., Verschueren A; Centre de Référence pour les Maladies Neuromusculaire et la SLA, Hôpital de la Timone, Assistance Publique Hôpitaux de Marseille, CHU de Marseille, Marseille, Provence-Alpes-Côte d'Azur, France., Seilhean D; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France.; Département de Neuropathologie, APHP, Hôpital Pitié-Salpêtrière, Paris, Île-de-France, France., Millecamps S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM,Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, Île de France, France stephanie.millecamps@upmc.fr.
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2021 Sep; Vol. 92 (9), pp. 942-949. Date of Electronic Publication: 2021 Mar 30.
Autor:
Garcin L; Pediatric Gynecology Diabetes and Endocrinology, APHP Centre - Hôpital Universitaire Necker Enfants Malades, Paris, France., Mericq V; Faculty of Medicine, Institute of Maternal and Child Research (IDIMI), University of Chile, Santiago, Chile., Fauret-Amsellem AL; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Robert Debré, Paris, France.; Centre de référence national des maladies rares de la sécrétion d'insuline et de la sensibilité à l'insuline, PRISIS, Paris, France., Cave H; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Robert Debré, Paris, France.; Centre de référence national des maladies rares de la sécrétion d'insuline et de la sensibilité à l'insuline, PRISIS, Paris, France.; Université de Paris, Paris, France., Polak M; Pediatric Gynecology Diabetes and Endocrinology, APHP Centre - Hôpital Universitaire Necker Enfants Malades, Paris, France.; Centre de référence national des maladies rares de la sécrétion d'insuline et de la sensibilité à l'insuline, PRISIS, Paris, France.; Université de Paris, Paris, France.; Institut IMAGINE, Paris, France.; Inserm U1016, Institut Cochin, Paris, France.; ENDO European Reference Network, Main Thematic Group 3, Genetic Disorders of Glucose and Insulin Homeostasis, European Reference Networks, Paris, France., Beltrand J; Pediatric Gynecology Diabetes and Endocrinology, APHP Centre - Hôpital Universitaire Necker Enfants Malades, Paris, France.; Centre de référence national des maladies rares de la sécrétion d'insuline et de la sensibilité à l'insuline, PRISIS, Paris, France.; Université de Paris, Paris, France.; Institut IMAGINE, Paris, France.; Inserm U1016, Institut Cochin, Paris, France.; ENDO European Reference Network, Main Thematic Group 3, Genetic Disorders of Glucose and Insulin Homeostasis, European Reference Networks, Paris, France.
Publikováno v:
Pediatric diabetes [Pediatr Diabetes] 2020 Sep; Vol. 21 (6), pp. 932-941. Date of Electronic Publication: 2020 Jul 20.
Autor:
Le Bourgeois F; Department of Pediatric Critical Care and Intensive Care, Robert Debré Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Beltrand J; Department of Pediatric Endocrinology, Gynecology, and Diabetology, Necker-Enfants Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, IMAGINE Institute Affiliate, Paris, France.; INSERM Unité Médicale de Recherche UMR 1016, Université de Paris, Sorbonne Paris Cité, Paris, France., Baz B; Department of Diabetes and Endocrinology, Lariboisière Hospital, Assistance Publique-Hôpitaux de Paris and Université de Paris, Paris, France., Julla JB; INSERM UMRS 1138, Centre de Recherches des Cordeliers, Université de Paris, Sorbonne Paris Cité, Paris, France., Riveline JP; Department of Diabetes and Endocrinology, Lariboisière Hospital, Assistance Publique-Hôpitaux de Paris and Université de Paris, Paris, France.; INSERM UMRS 1138, Centre de Recherches des Cordeliers, Université de Paris, Sorbonne Paris Cité, Paris, France., Simon A; Department of Pediatrics, André Mignot Hospital, Le Chesnay, France., Flechtner I; Department of Pediatric Endocrinology, Gynecology, and Diabetology, Necker-Enfants Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, IMAGINE Institute Affiliate, Paris, France., Ait Djoudi M; Centre Universitaire du Diabète et ses Complications, Hôpital Lariboisière, Clinical Investigation Center, INSERM-CIC 9504, Paris, France., Fauret-Amsellem AL; Department of Genetics, Robert Debré Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Vial Y; Department of Genetics, Robert Debré Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Université de Paris, Sorbonne Paris Cité, Paris, France., Scharfmann R; INSERM Unité Médicale de Recherche UMR 1016, Université de Paris, Sorbonne Paris Cité, Paris, France., Sommet J; Department of Pediatric Critical Care and Intensive Care, Robert Debré Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Boudou P; Unit of Hormonal Biology, Department of Biochemistry, Saint-Louis University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Cavé H; Department of Genetics, Robert Debré Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Université de Paris, Sorbonne Paris Cité, Paris, France., Polak M; Department of Pediatric Endocrinology, Gynecology, and Diabetology, Necker-Enfants Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, IMAGINE Institute Affiliate, Paris, France.; INSERM Unité Médicale de Recherche UMR 1016, Université de Paris, Sorbonne Paris Cité, Paris, France., Gautier JF; Department of Diabetes and Endocrinology, Lariboisière Hospital, Assistance Publique-Hôpitaux de Paris and Université de Paris, Paris, France jean-francois.gautier@aphp.fr.; INSERM UMRS 1138, Centre de Recherches des Cordeliers, Université de Paris, Sorbonne Paris Cité, Paris, France., Busiah K; Department of Pediatric Endocrinology, Gynecology, and Diabetology, Necker-Enfants Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, IMAGINE Institute Affiliate, Paris, France.; Pediatric Endocrinology, Diabetology and Obesity Unit, Lausanne University Hospital, Lausanne University, Lausanne, Switzerland.
Publikováno v:
Diabetes care [Diabetes Care] 2020 Jun; Vol. 43 (6), pp. 1191-1199. Date of Electronic Publication: 2020 Apr 09.