학술논문
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'학술논문'
에서 검색결과 248건 | 목록
1~20
Academic Journal
Scherer, MarianaHorn; Rosa de Stefani, Rodrigo; Miglorini, Elaine; de Castro Pereira, Paula; Dorr, Bruno Rutkoski; Nehm, Johanna Henriques; Dubiela, Ana Luísa; Hyland, Martin; Pauni, Micaela; Montoya, Silvina Gomez; Corbaz, Sofia; Pires, Cristian; Matsui, Ciro, Jr.; Caires de Oliveira Achili Ferreira, Juliana; Santos Monteiro, Ana Cristina; Saute, Jonas Alex ; Muntadas, Javier ; Gurgel-Giannetti, Juliana ; Monges, Soledad ; Aliberti, Paula ; Mendonça, Rodrigo Holanda ; Alecu, Iulian ; Ritter, Shannon ; Martins de Lana, Janaina ; Mumneh, Nayla ; Zanoteli, Edmar
In The Lancet Regional Health - Americas September 2025 49
Academic Journal
Beckerq, Michele Michelin ; Gurgel-Giannetti, Juliana ; Prufer de Queiroz Campos Araujo, Alexandra ; Machado Costa, Marcela Câmara ; Félix, Têmis Maria ; Lorea, Cláudia Fernandes ; Ortega, Adriana Banzzatto ; Zeny, Michelle Silva ; Kowalski, Thayne Woycinck ; Winckler, Pablo Brea ; Medeiros, Leonardo Simão ; Pinhati, Clara Catharino ; Monteiro Lessa de Moura, Ana Carolina ; Morales Saute, Jonas Alex ; Nardes, Flávia
In European Journal of Paediatric Neurology July 2025 57:35-40
Academic Journal
Moreno, C.; Tácio Quadros Santos Monteiro Fonseca, A.; Cunha Artilheiro, M.; Macedo Serafim da Silva, A.; de Paula Estephan, E.; Abdo Paiva, M.; Gontijo Camelo, C.; Santos Pessoa, A.; Paranhos Miranda Covalesk, A.; Tomaselli, P.; Scarpellini, G.; Gurgel-Giannetti, J.; Holanda Mendonça, R.; Maroco Cruzeiro, M.; Marques, W., Júnior; Ferreira da Rosa Sobreira, C.; Hirano, M.; Andres Nascimento, A.; Schlesinger, D.; Zanoteli, E.
Neuromuscular Disorders. 43
Academic Journal
Ashish R Deshwar; Cheryl Cytrynbaum; Harsha Murthy; Jessica Zon; David Chitayat; Jonathan Volpatti; Ruth Newbury-Ecob; Sian Ellard; Hana Lango Allen; Emily P Yu; Ramil Noche; Suzi Walker; Stephen W Scherer; Sonal Mahida; Christopher M Elitt; Gaël Nicolas; Alice Goldenberg; Pascale Saugier-Veber; Francois Lecoquierre; Ivana Dabaj; Hannah Meddaugh; Michael Marble; Kim M Keppler-Noreuil; Lucy Drayson; Kristin W Barañano; Anna Chassevent; Katie Agre; Pascaline Létard; Frederic Bilan; Gwenaël Le Guyader; Annie Laquerrière; Keri Ramsey; Lindsay Henderson; Lauren Brady; Mark Tarnopolsky; Matthew Bainbridge; Jennifer Friedman; Yline Capri; Larissa Athayde; Fernando Kok; Juliana Gurgel-Giannetti; Luiza L P Ramos; Susan Blaser; James J Dowling; Rosanna Weksberg
Brain. 146:2285-2297
Academic Journal
Grossklauss, LF; Sobrinho, JCLB; Fernandes, AR; Ferreira, PK; Barbosa, RDCGDA; Zanotelli, E; Costa, M; Gurgel-Giannetti, J.; Ung, B; Iff, J; Evans, J
Value in Health. 27(12):S177-S177
Academic Journal
Vlodavets D; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric & Pediatric Surgery Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia.; Wu S; The Third Medical Center of PLA General Hospital, Beijing, China.; Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Poland.; Chae JH; Seoul National University Hospital, Seoul, South Korea.; Gulati S; All India Institute of Medical Sciences, New Delhi, India.; Shin JH; Department of Neurology, Pusan National University School of Medicine, Yangsan, South Korea.; Lorentzos M; The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Cairns A; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; Jong YJ; Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, & Departments of Pediatrics & Laboratory Medicine, & Translational Research Center of Neuromuscular Diseases, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.; Komaki H; Translational Medical Center, National Center of Neurology & Psychiatry, Tokyo, Japan.; Statland J; University of Kansas Medical Center, Kansas City, KS, USA.; de Queiroz Campos Araujo AP; Department of Pediatrics, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.; Gurgel-Giannetti J; Department of Pediatrics, Faculty of Medicine, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.; Takeshima Y; Department of Pediatrics, Hyogo Medical University, Nishinomiya, Japan.; Escobar Cedillo RE; Instituto Nacional de Rehabilitacion, Mexico City, Mexico.; Karachunski P; University of Minnesota, Minneapolis, MN, USA.; Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan.; Penematsa V; PTC Therapeutics Inc., Warren, NJ, USA.; Chou C; PTC Therapeutics Inc., Warren, NJ, USA.; Williams P; PTC Therapeutics Inc., Warren, NJ, USA.; Werner C; PTC Therapeutics Germany GmbH, Frankfurt, Germany.; McDonald CM; University of California Davis School of Medicine, Sacramento, CA, USA.
Publisher: Becaris Publishing Country of Publication: England NLM ID: 101577308 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2042-6313 (Electronic) Linking ISSN: 20426305 NLM ISO Abbreviation: J Comp Eff Res Subsets: MEDLINE
Academic Journal
Foley, A.; Maio, N.; Todd, J.; Huryn, L.; Saade, D.; Neuhaus, S.; Donkervoort, S.; Hufnagel, R.; Stasheff, S.; Orbach, R.; Gurgel-Giannetti, J.; Gropman, A.; Rouault, T.; Bönnemann, C.
Neuromuscular Disorders. 33:S133-S133
Academic Journal
Camelo CG; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil. claragc@gmail.com.; Mendonça RH; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Hospital Samaritano Higienópolis, São Paulo, Brazil.; Moreno CAM; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Ferreira JCOA; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Ortega AB; Hospital Pequeno Príncipe, Curitiba, Brazil.; van der Linden V; Rarus/Hospital Maria Lucinda, Recife, Brazil.; Campos RSM; Hospital Israelita Albert Einstein, São Paulo, Brazil.; van der Linden H; Hospital de Goiânia, Goiânia, Brazil.; da Cunha NSC; Department of Pediatrics, Faculdade de Medicina, Universidade de Minas Gerais (UFMG), Belo Horizonte, Brazil.; Gurgel-Giannetti J; Department of Pediatrics, Faculdade de Medicina, Universidade de Minas Gerais (UFMG), Belo Horizonte, Brazil.; Chaves JM; Department of Pediatrics, Faculdade de Medicina, Universidade de Minas Gerais (UFMG), Belo Horizonte, Brazil.; Miranda SMC; Santa Casa de Belo Horizonte, Belo Horizonte, Brazil.; Ziegler A; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Zanoteli E; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5462 (Electronic) Linking ISSN: 09697128 NLM ISO Abbreviation: Gene Ther Subsets: MEDLINE
Academic Journal
Moreno, C.A.M.; Artilheiro, M.C.; Fonseca, A.T.Q.S.M.; da Silva, A.M.S.; Fernandes, T.R.; Paiva, M.A.; di Pace, F.T.; de Paula Estephan, E.; Mendonça, R.H.; Kok, F.; Zanoteli, E.; Schlesinger, D.; Oliveira, A.S.B.; Pessoa, A.L.S.; Braga, V.L.L.; Mariano, T.C.; da Penha Morita, M.; Covaleski, A.P.P.M.; Van der Linden, V.; Tomaselli, P.J.; Scarpellini, G.R.; Júnior, W.M.; Sobreira, C.F.D.R.; Gurgel-Giannetti, J.; Sobrinho, L.M.F.; Junior, C.W.P.; de Oliveira, T.M.; Lucas, E.L.S.; Camelo, C.G.; Cruzeiro, M.M.; Hirano, M.; Nascimento-Osorio, A.
In: Scientific Reports . (Scientific Reports, December 2025, 15(1))
Academic Journal
Day, J.; Finkel, R.; Pascual, S.; Ryan, M.; Mercuri, E.; De Vivo, D.; Montes, J.; Gurgel-Giannetti, J.; Gambino, G.; Makepeace, C.; Foster, R.; Irzhevsky, V.; Berger, Z.
Neuromuscular Disorders. 32:S85-S85
Academic Journal
Gurgel-Giannetti, J.; Lynch, D. S.; de Paiva, A. R. B.; Lucato, L. T.; Yamamoto, G.; Thomsen, Christer; Basu, S.; Freua, F.; Giannetti, A. V.; de Assis, B. D.; Ribeiro, M. D.; Barcelos, I.; Souza, K. S.; Monti, F.; Melo, U. S.; Amorim, S.; Silva, L. G. L.; Macedo-Souza, L. I.; Vianna-Morgante, A. M.; Hirano, M.; Van der Knaap, M. S.; Lill, R.; Vainzof, M.; Oldfors, Anders, 1951; Houlden, H.; Kok, F.
Brain. 141:2289-2298
Academic Journal
Mercuri, E.; Finkel, R.; Day, J.; Pascual, S. Pascual; Ryan, M.; De Vivo, D.; Montes, J.; Gurgel-Giannetti, J.; Gambino, G.; Nuzzo, R.; Makepeace, C.; Garafalo, S.; Berger, Z.
Neuromuscular Disorders. 31:S132-S132
Academic Journal
Ryan, M.; Finkel, R.; Pascual, S. Pascual; Day, J.; Mercuri, E.; De Vivo, D.; Montes, J.; Gurgel-Giannetti, J.; MacCannell, D.; Berger, Z.
Neuromuscular Disorders. 31:S131-S131
Academic Journal
Fernanda S. Jehee; Valdirene T. de Oliveira; Juliana Gurgel‐Giannetti; Rafaella X. Pietra; Fernando V. M. Rubatino; Natália V. Carobin; Gabrielle S. Vianna; Mariana L. de Freitas; Karla S. Fernandes; Beatriz S. V. Ribeiro; Hennie T. Brüggenwirth; Roza Ali‐Amin; Janson J. White; Zeynep C. Akdemir; Shalini N. Jhangiani; Richard A. Gibbs; James R. Lupski; Monica C. Varela; Célia Koiffmann; Carla Rosenberg; Cláudia M. B. Carvalho
American Journal of Medical Genetics Part A. 173:2451-2455
LIMB GIRDLE MUSCULAR DYSTROPHIES: P.155 Clinical variability in LGMD2B: searching for modifier genes
Academic Journal
Neuromuscular Disorders. 30:S91-S92
Academic Journal
Journal of Child Neurology. 32:246-250
Academic Journal
Finkel, R.; Day, J.; Ryan, M.; Mercuri, E.; De Vivo, D.; Pascual, S. Pascual; Montes, J.; Gurgel-Giannetti, J.; Mitchell-Sweeney, N.; Foster, R.; Sun, P.; Ramirez-Schrempp, D.; Kandinov, B.; Farwell, W.
Neuromuscular Disorders. 30:S124-S124
Academic Journal
Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA.; Day JW; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.; Pascual Pascual SI; UAM, Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, Spain.; Ryan MM; Department of Neurology, Royal Children's Hospital, Parkville, VIC, Australia.; Mercuri E; Department of Paediatric Neurology, Catholic University, Rome, Italy.; De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Montes J; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Gurgel-Giannetti J; Department of Paediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Monine M; Biogen, Cambridge, MA, USA.; Gambino G; Biogen, Maidenhead, Berkshire, UK.; Makepeace C; Biogen, Maidenhead, Berkshire, UK.; Foster R; Biogen, Maidenhead, Berkshire, UK.; Berger Z; Biogen, Cambridge, MA, USA.
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Academic Journal
Thomsen, C.; Gurgel-Giannetti, J.; Sunnerhagen, Y.; Giannetti, A.; Kok, F.; Vainzof, M.; Oldfors, A.
Neuromuscular Disorders. 29:S56-S57
Academic Journal
Gurgel-Giannetti, J; Nogales-Gadea, G; van der Linden, H; Bellard, TMR; Brasileiro, G; Giannetti, AV; Concentino, ELD; Vainzof, M
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Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
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