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ORPHANET JOURNAL OF RARE DISEASES. 21(1)

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Eduardo F. Tizzano; Susana Quijano-Roy; Laurent Servais; Julie A. Parsons; Sharon Aharoni; Arpita Lakhotia; Richard S. Finkel; Eugenio Mercuri; Janbernd Kirschner; Darryl C. De Vivo; Kayoko Saito; Dheeraj Raju; Kamal Benguerba; Omar Dabbous; Nayla Mumneh; Sandra P. Reyna; Eric Faulkner

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Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Stephan Wenninger; Susana Quijano Roy; Maxwell S. Damian

Clinical Neurorespiratory Medicine ISBN: 9781009394628

D'Amico, A. ; Baets, J. ; Baumann, M. ; van der Beek, N. ; De Bleecker, J. ; Bruijnes, A. ; Claeys, K. ; Bruno, C. ; Dambrauskiene, M. ; D'Errico, E. ; Filosto, M. ; Gosk-Tomek, M. ; Herdewyn, S. ; Kornblum, C. ; Kostera-Pruszczyk, A. ; Maggi, L. ; Manganelli, F. ; Mueller-Felber, W. ; Munell, F. ; Nadaj-Pakleza, A. ; Nascimento, A. ; Olive, M. ; Ørstavik, K. ; Palmio, J. ; Pegoraro, E. ; Peterlin, B. ; van der Ploeg, A.T. ; Quijano-Roy, S. ; Remiche, G. ; Ricci, G. ; Rohlenová, M. ; Rosenbohm, A. ; Sacconi, S. ; Sansone, V. ; Santos, M. ; Schara-Schmidt, U. ; Servidei, S. ; Siciliano, G. ; Soler, D. ; Stojkovic, T. ; Vali, L. ; Verschuuren, J. ; Viktorija, K. ; Wadman, R.I. ; Walter, M.C. ; Weiss, C. ; Zamba-Papanicolaou, E. ; Zambon, A. ; Kruse, M.T.A. ; Olde Dubbelink, B.A.S. ; Kroneman, M. ; de Groot, I. ; Schlüter, S. ; de Visser, M. ; Evangelista, T. ; Moretti, A. ; Weber, D. ; Ward, L.M. ; Voermans, N.C.

In Journal of the Neurological Sciences 15 May 2025 472

Ropars J; Reference Center for Neuromuscular Disorders, Pediatric Department, CHU Brest, Brest, France.; Laboratoire de Traitement de l'Information Médicale (LaTIM) INSERM UMR 1101, Brest, France.; Unité de Recherche Clinique Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Direction de la Recherche Clinique Assistance Publique Hôpitaux de Paris, Paris, France.; Cances C; Reference Center for Neuromuscular Disorders, Pediatric Clinical Research Unit/Pediatric Multi-Thematic Module CIC 1436, Neuropediatric Department, Toulouse University Hospital, Toulouse, France.; Garcia-Uzquiano R; Unité de Recherche Clinique Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Direction de la Recherche Clinique Assistance Publique Hôpitaux de Paris, Paris, France.; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Hôpital Raymond Poincaré, Garches, France.; Gomez-Garcia de la Banda M; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Hôpital Raymond Poincaré, Garches, France.; Barnerias C; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Hôpital Necker Enfants Malades, Paris, France.; Audic F; Reference Center for Neuromuscular Disorders, Pediatric Department, CHU Brest, Brest, France.; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Hôpital de la Timone, Assistance Publique-Hôpitaux de Marseille, Marseille, France.; Durigneux J; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Angers University Hospital, Angers, France.; Halbert C; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Hôpital de la Timone, Assistance Publique-Hôpitaux de Marseille, Marseille, France.; Nkam L; Unité de Recherche Clinique Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Direction de la Recherche Clinique Assistance Publique Hôpitaux de Paris, Paris, France.; Laugel V; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Strasbourg University Hospital, Strasbourg, France.; Espil C; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Bordeaux University Hospital, Bordeaux, France.; Walther-Louvier U; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Montpellier University Hospital, Montpellier, France.; Davion JB; Reference Center for Neuromuscular Disorders, Department of Neurology, Lille University Hospital, Lille, France.; Isapof A; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.; Le Goff L; Reference Center for Neuromuscular Disorders, Department of Pediatric Physical Medicine and Rehabilitation, Hôpital Mère Enfant, Lyon University Hospital, Bron, France.; Neuromyogen Institute, Université de Lyon, Lyon, France.; Desguerre I; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Hôpital Necker Enfants Malades, Paris, France.; Quijano-Roy S; Reference Center for Neuromuscular Disorders, Neuropediatric Department, Hôpital Raymond Poincaré, Garches, France.; Laboratoire END-ICAP-UMR 1179 (INSERM/UVSQ), Handicap Neuromusculaire: Physiopathologie, Biothérapie et Pharmacologie Appliquées, Montigny-le-Bretonneau, France.; Grimaldi L; Unité de Recherche Clinique Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Direction de la Recherche Clinique Assistance Publique Hôpitaux de Paris, Paris, France.; Team Anti-Infective Evasion and Pharmacoepidemiology, INSERM UMR1018, Faculty of Medicine Simone Veil, University Versailles Saint-Quentin-en-Yvelines-Paris Saclay U, Montigny-Le-Bretonneux, France.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Grimaldi, L.; Garcia-Uzquiano, R.; de la Banda, M. G.; Oulhissane-Omar, A.; Tard, Celine; Saugier-Veber, P.; Laugel, V.; Desguerre, I.; Cintas, P.; Vuillerot, C.; Audic, F.; Cances, C.; Stojkovic, T.; Urtizberea, J. A.; Attarian, S.; Ropars, J.; Quijano-Roy, S.

R. Barrois; B. Tervil; M. Cacioppo; C. Barnerias; E. Deladrière; V. Leloup-Germa; A. Hervé; L. Oudre; D. Ricard; P. P. Vidal; N. Vayatis; S. Quijano Roy; S. Brochard; C. Gitiaux; I. Desguerre

Journal of NeuroEngineering and Rehabilitation, Vol 21, Iss 1, Pp 1-16 (2024)

Servais, Laurent; Day, John W.; De Vivo, Darryl C.; Kirschner, Janbernd; Mercuri, Eugenio; Muntoni, Francesco; Proud, Crystal M.; Shieh, Perry B.; Tizzano, Eduardo F.; Quijano‐Roy, Susana; Desguerre, Isabelle; Saito, Kayoko; Faulkner, Eric; Benguerba, Kamal; Raju, Dheeraj; LaMarca, Nicole; Sun, Rui; Anderson, Frederick A.; Finkel, Richard S.

J Neuromuscul Dis
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Barrière, Sarah ; Manel, Véronique ; Barnerias, Christine ; Wahbi, Karim ; Audic, Frédérique ; Cances, Claude ; Chouchane, Mondher ; Dabaj, Ivana ; Davion, Jean-Baptiste ; Desguerre, Isabelle ; Durigneux, Julien ; Espil-Taris, Caroline ; Gousse, Gaelle ; Gitiaux, Cyril ; Lambert, Clémentine ; Laroche, Cécile ; Laugel, Vincent ; Moing, Anne-Gaelle Le ; Pereon, Yann ; Quijano-Roy, Susana ; Ropars, Juliette ; Sarrazin, Elisabeth ; Serrand, Benjamin ; Thibaud, Marie ; Trommsdorff, Valérie ; Urtizberea, Jon Andoni ; Vanhulle, Catherine ; Walther-Louvier, Ulrike ; Isapof, Arnaud ; Sarret, Catherine

In Archives de pédiatrie February 2025 32(2):107-113

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Ann Clin Transl Neurol
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Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2155-2160 (2023)

R. Villar Quiles; A. Behin; H. Prigent; M. Gassama; N. Ait Younes; S. Quijano Roy; S. Amthor; L. Grimaldi; J. Pincemail; O. David; B. Estournet; A. Ferreiro

Neuromuscular Disorders. 53:105567

C. Tard; L. Grimaldi; A. Urtizberea; P. Laforêt; P. Cintas; E. Salort-Campana; S. Attarian; L. Nkam; E. Malfatti; E De La Cruz; S. Quijano-Roy; T. Stojkovic

Neuromuscular Disorders. 53:105995

Banda, M. Gomez Garcia De La; Gerin, L.; Ropars, J.; Garcia-Uzquiano, R.; Saugier-Veber, P.; Desguerre, I.; Salort-Campana, E.; Espil, C.; Barnerias, C.; Laugel, V.; Cances, C.; Audic, F.; Cintas, P.; Tard, C.; Goff, L. Le; Dieterich, K.; Drunat, S.; Grimaldi, L.; Quijano-Roy, S.

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In European Journal of Paediatric Neurology July 2024 51:73-78

Altin N; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.; Mamchaoui K; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.; Ohana J; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.; Bigot A; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.; Corradi B; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy, iit.it.; Department of Experimental Medicine, University of Genova, Genoa, Italy, unige.it.; Maragliano L; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy, iit.it.; Department of Life and Environmental Sciences, Polytechnic University of Marche, Ancona, Italy, univpm.it.; Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Ognibene M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Nosrati MSS; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy, unige.it.; Paladini D; Fetal Medicine and Surgery Unit, Department Mother and Child, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Rashid A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.; Bodamer O; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.; Quijano-Roy S; Garches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches, France.; Punetha J; GeneDx, Gaithersburg, Maryland, USA, genedx.com.; Capra V; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy, unige.it.; Trollet C; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.; Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy, unige.it.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

J. Davion; I. Desguerre; F. Audic; C. Cancès; C. Barnerias; C. Espil-Taris; B. Fauroux; Y. de Feraudy; M. Guichard; A. Isapof; S. Quijano Roy; C. Vuillerot; E. Bodiguel

Neuromuscular Disorders. 53:106143

A. Ho; S. Quijano-Roy; A. Ferreiro

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Gerin L; Centre de Référence Neuromusculaire NEIDF (FILNEMUS), Service de Neuropédiatrie et Réanimation, Hôpital Raymond Poincaré (UVSQ) APHP Université Paris-Saclay, Garches, France.; Ropars J; Centre de Référence Neuromusculaire AOC (FILNEMUS), CHU Brest, LaTIM INSERM UMR 1101, Brest, France.; Garcia-Uzquiano R; Centre de Référence Neuromusculaire NEIDF (FILNEMUS), Service de Neuropédiatrie et Réanimation, Hôpital Raymond Poincaré (UVSQ) APHP Université Paris-Saclay, Garches, France.; Gómez-García De la Banda M; Centre de Référence Neuromusculaire NEIDF (FILNEMUS), Service de Neuropédiatrie et Réanimation, Hôpital Raymond Poincaré (UVSQ) APHP Université Paris-Saclay, Garches, France.; Saugier-Veber P; Service de Génétique, Centre Neuromusculaire NEIDF (FILNEMUS), CHU Rouen, et Inserm U1245 Univ Rouen Normandie, Rouen, France.; Desguerre I; Centre de Référence Neuromusculaire NEIDF (FILNEMUS), Univ. Paris-Descartes, Service de Neuropédiatrie, Necker Enfants Malades, Paris, France.; Salort-Campana E; Centre de Référence Neuromusculaire PACARARE (FILNEMUS), Service de Neurologie, La Timone, Marseille, France.; Espil C; Centre de Référence Neuromusculaire AOC (FILNEMUS), Service de Neuropédiatrie, CHU Bordeaux, France.; Barnerias C; Centre de Référence Neuromusculaire NEIDF (FILNEMUS), Univ. Paris-Descartes, Service de Neuropédiatrie, Necker Enfants Malades, Paris, France.; Laugel V; Centre de Référence Neuromusculaire NEIDF (FILNEMUS), Service de Neuropédiatrie, CHU Strasbourg, France.; Cances C; Centre de Référence Neuromusculaire AOC (FILNEMUS), Unité de Neurologie Pédiatrique, Service de Pédiatrie, CHU Toulouse, France.; Audic F; Centre de Référence Neuromusculaire PACARARE (FILNEMUS), Service de Neuropédiatrie, La Timone, Marseille, France.; Cintas P; Centre de Référence Neuromusculaire AOC (FILNEMUS), Service de Neurologie, CHU Toulouse, France.; Le Goff L; Centre de Référence Neuromusculaire PACARARE (FILNEMUS), Service central de reéducation pédiatrique L'Escale, Hospices Civils de Lyon, Bron, France.; Mallaret M; Centre de Référence des Maladies Neuro Musculaires, Service de Neurologie, CHU Grenoble Alpes, Grenoble, France et Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, France.; Nouguès MC; Centre de Référence Neuromusculaire NEIDF (FILNEMUS), Service de Neurologie Pédiatrique, Hôpital Universitaire Armand- Trousseau (AP-HP), Paris, France.; Drunat S; Service de Génétique Moléculaire, Hôpital Universitaire Robert Debré (AP-HP), Paris, France.; Tard C; Centre de Référence Neuromusculaire NEIDF (FILNEMUS), Service de Neurologie, CHU Lille (U1172 Inserm Univ Lille - LilNCog - Lille Neuroscience & Cognition), France.; Grimaldi L; Unité de Recherche Clinique, APHP Université Paris-Saclay, Paris, France; and.; Quijano-Roy S; Centre de Référence Neuromusculaire NEIDF (FILNEMUS), Service de Neuropédiatrie et Réanimation, Hôpital Raymond Poincaré (UVSQ) APHP Université Paris-Saclay, Garches, France.; Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ). Handicap Neuromusculaire: Physiopathologie, Biothérapie Et Pharmacologie Montigny-le-Bretonneau, France.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE