부산대학교 도서관

Rodrigues, Rafael; de la Banda, Marta Gomez-Garcia; Tordjman, Mickael; Gomez-Andres, David; Quijano-Roy, Susana; Carlier, Robert-Yves; Pinheiro, Antonio M. G.

2021 IEEE 18th International Symposium on Biomedical Imaging (ISBI) Biomedical Imaging (ISBI), 2021 IEEE 18th International Symposium on. :1274-1278 Apr, 2021

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

Molinero, M. Alvarez; Pires, N.; Uzquiano, R. Garcia; de la Banda, M. Gómez Garcia; Comellas, L. Costa; Expósito, L. Ventura; Casadesús, F. Munell; Benezit, A.; Andrés, D. Gómez; Roy, S. Quijano

Neuromuscular Disorders. 43

Crawford, Thomas O.; Servais, Laurent; Mercuri, Eugenio; Kölbel, Heike; Kuntz, Nancy; Finkel, Richard S.; Krueger, Jena; Batley, Kaitlin; Dunaway Young, Sally; Marantz, Jing L.; Song, Guochen; Yao, Bert; Zhao, Guolin; Rossello, Jose; Tirucherai, Giridhar S.; Mazzone, Elena Stacy; Butterfield, Russell J.; Gomez Garcia de la Banda, Marta; Seferian, Andreea M.; Sansone, Valeria A.

Expert Review of Neurotherapeutics; Jan2026, Vol. 26 Issue 1, p101-120, 20p

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

Dabaj I; Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHUROUEN, Department of Neonatalogy, Pediatric Intensive Care and Neuropediatrics, Referal Center for Neuromuscular Diseases, Referal Center for Lysosomal Diseases, 76000 Rouen, France; Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHUROUEN, Department of Metabolic Biochemistry, Referal Center for Lysosomal Diseases, Referal Center for Neuromuscular Diseases Nord-Est-Ile-de-France, 76000 Rouen, France. Electronic address: ivana.dabaj@chu-rouen.fr.; Nguyen THY; Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHUROUEN, Department of Metabolic Biochemistry, Referal Center for Lysosomal Diseases, Referal Center for Neuromuscular Diseases Nord-Est-Ile-de-France, 76000 Rouen, France. Electronic address: thi-hai-yen.nguyen@chu-rouen.fr.; Lagrue E; Institut I-MOTION, Hôpital Armand Trousseau, Paris cedex 12, 75571, Paris, France. Electronic address: lagrue@univ-tours.fr.; Ducatez F; Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHUROUEN, Department of Neonatalogy, Pediatric Intensive Care and Neuropediatrics, Referal Center for Neuromuscular Diseases, Referal Center for Lysosomal Diseases, 76000 Rouen, France; Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHUROUEN, Department of Metabolic Biochemistry, Referal Center for Lysosomal Diseases, Referal Center for Neuromuscular Diseases Nord-Est-Ile-de-France, 76000 Rouen, France. Electronic address: franklin.ducatez@chu-rouen.fr.; Allouche S; Department of Biochemistry, University Hospital of Caen, Physiopathology and Imaging of Neurological Disorders, UMRS 1237, University of Caen Normandie, Caen, France. Electronic address: allouche-s@chu-caen.fr.; Ausseil J; Service de Biochimie, Institut Fédératif de Biologie, Centre Hospitalier Universitaire de Toulouse, Toulouse, France. Electronic address: jerome.ausseil@inserm.fr.; Seferian A; Institut I-MOTION, Hôpital Armand Trousseau, Paris cedex 12, 75571, Paris, France. Electronic address: a.seferian@institut-myologie.org.; Gomez-Garcia de la Banda M; APHP Université Paris-Saclay, Pediatric Neuromuscular Unit, Hôpital Universitaire Raymond-Poincaré, Université de Versailles Saint-Quentin-en-Yvelines, Garches, France. Electronic address: marta.gomezgarciadelabanda@aphp.fr.; Benezit A; APHP Université Paris-Saclay, Pediatric Neuromuscular Unit, Hôpital Universitaire Raymond-Poincaré, Université de Versailles Saint-Quentin-en-Yvelines, Garches, France. Electronic address: audrey.benezit@aphp.fr.; Phelep A; Institut I-MOTION, Hôpital Armand Trousseau, Paris cedex 12, 75571, Paris, France. Electronic address: a.phelep@institut-myologie.org.; Chouchane M; Department of Pediatric Neurology, French Competence Center for Neuromuscular Diseases, Dijon University Hospital Center, Hôpital d'Enfants, 14 rue Paul Gaffarel, 21079, Dijon, France. Electronic address: mondher.chouchane@chu-dijon.fr.; Vasseur S; MyoBank AFM-Institut de Myologie, Paris, France. Electronic address: s.vasseur@institut-myologie.org.; Chapart M; MyoBank AFM-Institut de Myologie, Paris, France. Electronic address: m.chapart@institut-myologie.org.; Marret S; Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHUROUEN, Department of Neonatalogy, Pediatric Intensive Care and Neuropediatrics, Referal Center for Neuromuscular Diseases, Referal Center for Lysosomal Diseases, 76000 Rouen, France; Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHUROUEN, Department of Metabolic Biochemistry, Referal Center for Lysosomal Diseases, Referal Center for Neuromuscular Diseases Nord-Est-Ile-de-France, 76000 Rouen, France. Electronic address: stephane.marret@chu-rouen.fr.; Quijano Roy S; APHP Université Paris-Saclay, Pediatric Neuromuscular Unit, Hôpital Universitaire Raymond-Poincaré, Université de Versailles Saint-Quentin-en-Yvelines, Garches, France. Electronic address: susana.quijano-roy@aphp.fr.; Tebani A; Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHUROUEN, Department of Metabolic Biochemistry, Referal Center for Lysosomal Diseases, Referal Center for Neuromuscular Diseases Nord-Est-Ile-de-France, 76000 Rouen, France. Electronic address: abdellah.tebani@chu-rouen.fr.; Bekri S; Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHUROUEN, Department of Metabolic Biochemistry, Referal Center for Lysosomal Diseases, Referal Center for Neuromuscular Diseases Nord-Est-Ile-de-France, 76000 Rouen, France. Electronic address: soumeya.bekri@chu-rouen.fr.

Publisher: Elsevier Inc. on behalf of American Society for Experimental NeuroTherapeutics Country of Publication: United States NLM ID: 101290381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE

Finkel, Richard S.; Mercuri, Eugenio; Darras, Basil T.; Connolly, Anne M.; Kuntz, Nancy L.; Kirschner, Janbernd; Chiriboga, Claudia A.; Saito, Kayoko; Servais, Laurent; Tizzano, Eduardo; Topaloglu, Haluk; Tulinius, Már; Montes, Jacqueline; Glanzman, Allan M.; Bishop, Kathie; Zhong, Z. John; Gheuens, Sarah; Bennett, C. Frank; Schneider, Eugene; Farwell, Wildon; De Vivo, Darryl C.; Bradley, W. G.; Schroth, M. K.; Bodensteriner, J. B.; Davis, C. S.; Shell, R.; Hen, J.; Austin, E. D.; Aziz-Zaman, S.; Cappell, J.; Constantinescu, A.; Cruz, R.; Dastgir, J.; Dunaway, S.; Engelstad, K.; Gormley, M.; Holuba La Marca, N.; Khandji, A.; Kramer, S.; Marra, J.; Ortiz-Miller, C.; Popolizio, M.; Salazar, R.; Sanabria, L.; Weimer, L.; Anand, P.; Gadeken, R.; Golumbek, P. T.; Siener, C.; Zaidman, C. M.; Al-Ghamdi, F.; Berde, C.; Ghosh, P.; Graham, R.; Harrington, T.; Koka, A.; Laine, R.; Liew, W.; Mirek, E.; Ordonez, G.; Pasternak, A.; Quigley, J.; Sethna, N.; Souris, M.; Szelag, H.; Wand, L.; Day, J. W.; D'Souza, G.; Duong, T. T.; Gee, R.; Kitsuwa-Lowe, J.; McFall, D.; Patnaik, S.; Paulose, S.; Perez, J.; Proud, C.; Purse, B.; Ramamurthi, R. J.; Sakamuri, S.; Sampson, J.; Sanjanwala, B.; Tesi Rocha, A. C.; Watson, K.; Welsh, L.; Pena, L. D. M.; Case, L.; Coates, J.; DeArmey, S.; Homi, M. M.; Milleson, C.; Nelson, N.; Ross, A.; Smith, E.; Taicher, B.; Wootton, J.; Finanger, E.; Benjamin, D.; Frank, A.; Roberts, C.; Russman, B.; Zilke, K.; Berry, D.; Civitello, M.; Cook, D.; Endsley, J. D.; Johnson, C.; Kasper, M.; Leon, W.; Lim, A.; O'Reardon, K.; Sigurdardottir, L. Y.; Turner, J.; Weber-Guzman, F.; Zinn, M.; Iannaccone, S. T.; Castro, D.; Cowie, M.; Farrow-Gillespie, A.; Herbert, A.; Kauk, M.; McElroy, D.; Miller, N.; Nelson, L.; Smith, L.; Spain, T.; Trest, S.; Johnson, N.; Butterfield, R.; DiBella, D.; Mayne, K.; Newcomb, T. M.; Rausch, N.; Blomgren, C.; Choi, H. W.; Epstein, L.; Goldman, S.; Krosschell, K.; Krueger, J.; Kurz, J.; Rao, V.; Parsons, J.; Allen, V.; Bielsky, A.; Booker, K.; Camuto, A.; Carry, T.; Fuhr, P.; Gibbons, M.; Janas, J.; Johnson, H.; Kelly, C.; Lord-Halvorson, L. S.; Nicolarsen, S.; Shea, S.; Tran, V.; VanderVeen, G.; Yang, M.; Zimmerman, C.; Shieh, P.; Parziale, N.; Rao, L.; Said, J. W.; Shu, F.; Skura, C.; Staudt, L.; Tennekoon, G.; Adang, L.; Brandsema, J.; Chadehumbe, M.; Flickinger, J.; Kichula, E.; Stanford, D.; Toms, M.; Zigmont, J.; Oskoui, M.; Arpin, S.; Dinunzio, P.; Ingelmo, P. M.; Poulin, C.; Rivera, G.; Sabapathy, C.; Srour, M.; Turgeon-Desilet, S.; Zielinski, D.; Selby, K.; King, C.; Lee, J.; Michoulas, A.; Roland, E.; Vajsar, J.; Chau, V.; Dowling, J.; Haldenby, R.; Miki, M.; So, S.; Pascual Pascual, S. I.; Martinez Bermejo, A.; Epinosa Garcia, S.; Garcia Guixot, S.; Martinez Moreno, M. M.; del Pilar Tirado Requero, M.; del Mar Garcia Romero, M.; Aguilar, C.; Munell Casadesus, F.; Gomez Garcia de la Banda, M. B.; Gallardo, M.; Gili, G.; Alavarez Molinero, M.; de Los Angeles Tormos Munoz, M.; Palacios, N. J.; Planas Pascual, B.; del Mar Melendez Plumed, M.; Rucian, A. F.; Toro Tamargo, E.; Gratacos Vinola, M.; Borell, S.; Eckenweiler, M.; Krüger, M.; Pechmann, A.; Rippberger, B.; Stein, S.; Vogt, S.; Wider, S.; Schara, U.; Andres, B.; Della Marina, A.; Ganfuss, A.; Jachertz, P.; Koelbel, H.; Rupprich, K.; Schroers, E. S.; Sponemann, N.; Bruno, C.; Fiorillo, C.; Garaventa, A.; Lanteri, P.; Lanzillotta, V.; Manzitti, C.; Pedermonte, M.; Tacchetti, P.; Trucco, F.; Zuffi, A.; De Sanctis, R.; Fanelli, L.; Luigetti, M.; Palermo, C.; Pane, M.; Piastra, M.; Sivo, S.; Gargaun, E.; Gidaro, T.; Gilabert, S.; Léger, P. L.; Le Moing, A. G.; Lilien, C.; Mayer, M.; Ollievier, Q.; Rambaud, J.; Taytard, J.; Vialle, R.; Voit, T.; Muntoni, F.; D'Argenzio, L.; Lister, PH.; Manzur, A.; Pisco Domingos, J.; Ramsey, D.; Ricotti, V.; Schottlaender, L.; Scoto, M.; Scuplak, S. M.; Selby, V.; Straub, V.; Baily, S.; Bertoli, M.; Mayhew, A. G.; Lofra, R. M.; Murphy, A.; Wood, C.; Darin, N.; Eldblom, J.; Kimber, E.; Kroksmark, A. K.; Lindstedt, A.; Michael, E.; Sofou, K.; Deconinck, N.; Christiaens, A.; Coppens, S.; DeCock, K.; De Vos voor, E.; Dorban, F.; Gilbert, G.; Rooze, S.; Tahon, V.; Van Coster, R.; Van Der Looven, R.; Vanlander, A.; Vens, D.; Verhelst, H.; Wenderickx, B.; Wittevrongel, S.; Farrar, M.; Berthon-Jones, N.; Doumit, M. A.; Herbert, K. J.; Kandula, T.; Morrison, M.; O'Brien, J.; Richardson, S.; Ferreira Sampaio, H. A.; Teoh, H. L.; Ryan, M.; Carroll, K. M.; De Valle, K. L.; Villano, D.; Woodcock, I.; Yiu, E. M.; Ardicli, D.; Gunbey, C.; Haliloglu, V. G.; Karaduman, A. A.; Konuskan, B.; Yildiz Sarikaya, F. G.; Serdaroglu, E.; Tanyildiz, M.; Temucin, C. M.; Yildirim, M.; Yilmaz, O. T.; Arakawa, R.; Chiba, Y.; Eto, K.; Hirasawa, K.; Ikai, T.; Ito, S.; Ito, Y.; Kaburagi, Y.; Kaneko, H.; Matsumaru, S.; Matsushima, N.; Mizuochi, K.; Nagata, S.; Nakatsukasa, H.; Nishikawa, A.; Otani, Y.; Sato, T.; Shichiji, M.; Sugimoto, K.; Takeshita, A.; Yanagishita, T.; Yamauchi, A.; Takeshima, Y.; Fujino, T.; Fukuda, N.; Lee, T.; Oriyama, K.; Shibano, T.; Shimomura, H.; Tachikawa, T.; Tanaka, Y.; Taniguchi, N.; Chae, J. H.; Choi, S. A.; Chun, S. M.; Jo, H.; Kim, H.; Kim, S. Y.; Lee, J. S.; Lim, B. C.; Shin, H. I.; Son, W. S.; Chan, S.; Chung, A. C.; Yan, C. S.; Stella, C.; Joseph, C. K. W.; Ng, C. S.; Alvin, H. C. C.; Janice, I. J. K.; Wendy, L. W. M.; Chui-San, M. N.; Ki, N. Y.; Shun, T. N.; Connie, W. Y.; Virginia, W. C.; Yvonne, Y.; Jong, Y. J.; Chen, T. H.; Chou, P. C.; Chou, Y. H.; Chung, H. W.; Hsu, J. H.; Ju, Y. H.; Liang, W. C.; Shih, H. H.; Wang, H. Y.; Wu, Y. C.; Zeng, Y. S.

New England Journal of Medicine. 377:1723-1732

Baranello G.; Roy S. Q.; Servais L.; Munell F.; Molinero M. A.; Natera de Benito D.; Nascimento A.; Gomez-Andres D.; Comellas L. C.; Exposito J.; Tizzano E. F.; Cuppen I.; Van der Pol L.; Aleman A.; Lochmuller H.; McMillan H.; Kirschner J.; Muller C.; Oskoui M.; Masson R.; Bruno C.; Gonorazky H. D.; Tesi-Rocha C.; Yaworski A. M.; Zanoteli E.; Mendonca R.; D'Amico A.; Cumbo F.; Tosi M.; Pane M.; Mercuri E.; Nardes F.; Prufer A.; Arci B. K.; Pascual S. I.; Fattal-Valevski A.; De Waele L.; Deconinck N.; Farrar M.; Haberlova J.; Gomez-Garcia de la Banda M.; Childs A. -M.; Martos C.; Wraige E.; Gowda V.; Illingworth M.; Ong M.; Majundar A.; Hughes I.; Torne K.; Willis T.; Ramdas S.; De Goede C.; Erbas Y.; Brusa C.; Scoto M.; Muntoni F.

European Journal of Paediatric Neurology. 48:67-68

Crawford, Thomas O; Servais, Laurent; Mercuri, Eugenio; Kölbel, Heike; Kuntz, Nancy; Finkel, Richard S; Krueger, Jena; Batley, Kaitlin; Young, Sally Dunaway; Marantz, Jing L; Song, Guochen; Yao, Bert; Zhao, Guolin; Rossello, Jose; Tirucherai, Giridhar S; Mazzone, Elena Stacy; Butterfield, Russell J; de la Banda, Marta Gomez Garcia; Seferian, Andreea M; Sansone, Valeria A; et al

Lancet Neurology (LANCET NEUROL), Sep2025; 24(9): 727-739. (13p)

Desguerre I; IHU Imagine, Paris University, 24, Boulevard du Montparnasse, 75015, Paris, France.; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, AP-HP, Hôpital Necker-Enfants Malades, 149 rue de sèvres, 75015, Paris, France.; Barrois R; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, AP-HP, Hôpital Necker-Enfants Malades, 149 rue de sèvres, 75015, Paris, France. remi.barrois@aphp.fr.; Audic F; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Hôpital Timone Enfants, 264 rue Saint-Pierre, 13385, Marseille, France.; Barnerias C; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, AP-HP, Hôpital Necker-Enfants Malades, 149 rue de sèvres, 75015, Paris, France.; Chabrol B; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Hôpital Timone Enfants, 264 rue Saint-Pierre, 13385, Marseille, France.; Davion JB; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Lille University Hospital Center, 2 avenue Oscar Lambret, 59000, Lille, France.; Durigneux J; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Angers University Hospital Center, 4 rue Larrey, 49933, Angers, France.; Espil-Taris C; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Pellegrin University Hospital Center, Hôpital des Enfants, place Amélie-Raba-Léon, 33086, Bordeaux, France.; Gomez-Garcia de la Banda M; Pediatric Neurology and ICU Department, Garches Reference Center for Neuromuscular Diseases (NEIF for FILNEMUS; RPC for Euro-NMD ERN), AP-HP Paris-Saclay Université, Hôpital Raymond Poincaré (UVSQ), 104 boulevard Raymond Poincaré, 92380, Garches, France.; Guichard M; Department of Pediatric Neurology and Handicaps, French Competence Center for Neuromuscular Diseases, Boulevard Tonnellé, Hôpital Clocheville, 2 Boulevard Tonnellé, 37000, Tours, France.; Isapof A; Department of Pediatric Neurology, AP-HP, French Reference Center for Neuromuscular Diseases, Hôpital Armand Trousseau, 26 avenue du Docteur Arnold-Netter, 75012, Paris, France.; Nougues MC; Department of Pediatric Neurology, AP-HP, French Reference Center for Neuromuscular Diseases, Hôpital Armand Trousseau, 26 avenue du Docteur Arnold-Netter, 75012, Paris, France.; Laugel V; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Strasbourg University Hospital Center, Hôpital de Hautepierre, 1 avenue Molière, 67098, Strasbourg, France.; Le Goff L; Department of Neuromuscular Pathology, French Reference Center for Neuromuscular Diseases, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, -Bron, 59 boulevard Pinel, 69677, Lyon-Bron, France.; Mercier S; Department of Medical Genetics, French Reference Center for Neuromuscular Diseases, Nantes University Hospital Center, 1 Place Alexis-Ricordeau, 44093, Nantes, France.; Pervillé A; Department of Pediatrics, French Competence Center for Neuromuscular Diseases, Hôpital d'Enfants ASFA, CS 81010, 97404, Saint Denis Cedex, Réunion, France.; Richelme C; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Nice University Hospital Center, Hôpital Lenval, 57 Avenue de la Californie, 06200, Nice, France.; Thibaud M; Department of Pediatrics, French Reference Center for Neuromuscular Diseases, American Memorial Hospital, Reims University Hospital Center, 49 Rue Cognacq Jay, 51092, Reims, France.; Sarret C; CMR Neuromusculaire, French Reference Center for Neuromuscular Diseases, Clermont-Ferrand University Hospital Center, Clermont-Ferrand, France.; Schweitzer C; Department of Infant Medicine, French Reference Center for Neuromuscular Diseases, Nancy University Hospital Center, Rue du Morvan, 54511, Vandoeuvre lès Nancy, France.; Testard H; Department of Pediatric Neurology, French Competence Center for Neuromuscular Diseases, Grenoble University Hospital Center, Hôpital Couple Enfant, Quai Yermolof, 38700, Grenoble, France.; Trommsdorff V; Department of Pediatrics, French Reference Center for Neuromuscular Diseases, University Hospital Center, Avenue François Mitterrand, BP 350, 97448, Saint Pierre Cedex, Réunion, France.; Vanhulle C; Department of Pediatrics, French Competence Center for Neuromuscular Diseases, Rouen University Hospital Center, Charles Nicolle, 1 Rue de Germont, 76031, Rouen, France.; Walther-Louvier U; Department of Pediatric Neurology, French Greater South‒West Reference Center for Neuromuscular Diseases, Hôpital Gui de Chauliac, University Hospital Center Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier, France.; Altuzarra C; Department of Pediatrics, French Reference Center for Neuromuscular Diseases, Besançon University Hospital Center - Hôpital Jean Minjoz, 3 boulevard A. Fleming, 25030, Besançon, France.; Chouchane M; Department of Pediatric Neurology, French Competence Center for Neuromuscular Diseases, Dijon University Hospital Center, Hôpital d'Enfants, 14 rue Paul Gaffarel, 21079, Dijon, France.; Ropars J; LaTIM INSERM UMR 1101, French Reference Center for Neuromuscular Diseases Brest University Hospital Center, Hôpital Morvan, Boulevard Tanguy Prigent, 29609, Brest, France.; Quijano-Roy S; Pediatric Neurology and ICU Department, Garches Reference Center for Neuromuscular Diseases (NEIF for FILNEMUS; RPC for Euro-NMD ERN), AP-HP Paris-Saclay Université, Hôpital Raymond Poincaré (UVSQ), 104 boulevard Raymond Poincaré, 92380, Garches, France.; Cances C; Department of Pediatric Neurology, French Greater South‒West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, University Hospital Center Toulouse, 330 av de Grande Bretagne-TSA, 31059, Toulouse, France.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

de la Banda, M. Gomez Garcia; Garcia-Uzquiano, R.; Benezit, A.; Davion, J.; Dabaj, I.; Amthor, H.; Bouadi, A.; Spigarelli, M.; Bocassin, C.; Tirolien, S.; Villart, M.; Sonnet, L.; Grimaldi-Bensouda, L.; Quijano-Roy, S.

Neuromuscular Disorders. 32:S62-S62

de la Banda, M. Gomez Garcia; Grimaldi-Bensouda, L.; Urtizberea, J.; Behin, A.; Vuillerot, C.; Saugier-Veber, P.; Audic, F.; Barnerias, C.; Cances, C.; Campana-Salort, E.; Espil, C.; Laforet, P.; Laugel, V.; Pereon, Y.; Sacconi, S.; Stojkovic, T.; Tard, C.; Chabrol, B.; Desguerre, I.; Quijano-Roy, S.

Neuromuscular Disorders. 31:S130-S131

Quijano-Roy, S.; Gaume, M.; Saudeau, E.; de la Banda, M. Gomez-Garcia; Azzi-Salameh, V.; Mbieleu, B.; Verollet, D.; Barnerias, C.; Benezit, A.; Dabaj, I.; Essid, A.; Doehring, I.; Amthor, H.; Oulhissane, A.; Carlier, R.; Desguerre, I.; Bergounioux, J.; Glorion, C.; Miladi, L.

Neuromuscular Disorders. 31:S126-S126

Gaume, M.; Saudeau, E.; de la Banda, M. Gomez Garcia; Azzi-Salameh, V.; Barnerias, C.; Benezit, A.; Dabaj, I.; Essid, A.; Gitiaux, C.; Haegy, I.; Mbieleu, B.; Sauvagnac, R.; Verollet, D.; Carlier, R.; Bergounioux, J.; Desguerre, I.; Topouchian, V.; Quijano-Roy, S.; Miladi, L.; Glorion, C.

Neuromuscular Disorders. 30:S124-S125

de la Banda, M. Gomez Garcia; Fahmi, N.; Sternberg, D.; Blondy, P.; Quijano-Roy, S.; Malfatti, E.

Neuromuscular Disorders. 30:S57-S58

Gomez Garcia de la Banda, M.; Natera-de Benito, D.; Dabaj, I.; Ben Yaou, R.; Ortez, C.; Wahbi, K.; Maldonado, S.; Clarke, N.; Carlier, R.; Colomer, J.; Bonne, Gisèle; Nascimento, A.; Monges, M.; Quijano-Roy, S.

Giorgia Q; APHP, Service de Neuromyologie, Hôpital Pitié-Salpêtrière, Centre Référent pour les Maladies Neuromusculaires Nord/Est/Ile de France, Paris, France.; Institut de Myologie, I-Motion Clinical Trials Platform, Paris, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; Gomez Garcia de la Banda M; Institut de Myologie, I-Motion Clinical Trials Platform, Paris, France.; APHP, Pediatric Neurology Department, Hôpital Armand Trousseau, Centre Référent pour les Maladies Neuromusculaires Nord/Est/Ile de France, Paris, France.; APHP, Pediatric Neurology and ICU Department, Université Paris Saclay, DMU Santé de l'Enfant et de l'Adolescent, Hôpital Raymond Poincaré, Garches, France.; Smeriglio P; Centre of Research in Myology, Institute of Myology, Sorbonne Université, INSERM, Paris, France.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Gomez-Garcia de la Banda, M; Dabaj, I; Ben Yaou, R; Clarke, N; Nascimento, A; Benezit, A; Desguerre, I; Wahbi, K; Carlier, RY; Bonne, Gisèle; Quijano-Roy, S; Filière Nationale Des Maladies Rares Neuromusculaires, Filnemus

Gomez-Garcia de la Banda, M.; Grimaldi, L.; Urtizberea, J.; Behin, A.; Vuillerot, C.; Saugier-Veber, P.; Audic, F.; Barnerias, C.; Cances, C.; Campana-Salort, E.; Spil, C.; Laforet, P.; Laugel, V.; Pereon, Y.; Sacconi, S.; Stojkovic, T.; Tard, C.; Chabrol, B.; Desguerre, I.; Quijano-Roy, S.

Neuromuscular Disorders. 30:S101-S101

Thomas O Crawford; Laurent Servais; Eugenio Mercuri; Heike Kölbel; Nancy Kuntz; Richard S Finkel; Jena Krueger; Kaitlin Batley; Sally Dunaway Young; Jing L Marantz; Guochen Song; Bert Yao; Guolin Zhao; Jose Rossello; Giridhar S Tirucherai; Elena Stacy Mazzone; Russell J Butterfield; Marta Gomez Garcia de la Banda; Andreea M Seferian; Valeria A Sansone; Liesbeth De Waele; W Ludo van der Pol; Claude Cances; Astrid Pechmann; Basil T Darras; Adelie Navas Nazario; Anne M. Connolly; Carolina Tesi-Rocha; Chamindra Laverty Rady; Craig Zaidman; Crystal Proud; Han Phan; Jeffrey M. Statland; Jennifer Kwon; Jessica Nance; Julie Parsons; Katherine Mathews; Leigh Marie Ramos-Platt; Michael Cartwright; Randal Richardson; Robert Fryer; Sabrina Yum; Saunder Bernes; Seth Javier Perlman; Claudio Bruno; Riccardo Masson; Sonia Messina; Astrid Blaschek; Dorothea Holzwarth; Barbara Steinborn; Katarzyna Kotulska-Jozwiak; Maria Mazurkiewicz-Beldzinska; Aurore Daron; Nicolas Deconinck; Jean-Baptiste B. Davion; Anne-Marie Childs; Giovanni Baranello; Andres Nascimento Osorio; Inmaculada Pitarch Castellano

The Lancet Neurology. 24:727-739