학술논문
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'학술논문'
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1~20
Academic Journal
J. Alonso-Pérez; O. Barrachina-Esteve; L. González-Quereda; M.L. Viguera-Martinez; M. Luján-Torné; M. Guitart-Feliubadaló; J. Miguel Martínez; Á. Carbayo; P. Gallano; J. Díaz-Manera; M. Olivé; R. Rojas-Garcia
Neurología, Vol 40, Iss 5, Pp 433-441 (2025)
Academic Journal
Hani Kushlaf; Jordi Díaz‐Manera; Drago Bratkovic; Barry J. Byrne; Kristl G. Claeys; Paula R. Clemens; Mazen M. Dimachkie; Priya S. Kishnani; Pascal Laforêt; Mark Roberts; Benedikt Schoser; Antonio Toscano; Jeff Castelli; Fred Holdbrook; Sheela Sitaraman Das; Mitchell Goldman; Tahseen Mozaffar
Muscle & Nerve. 72:230-239
Academic Journal
Alonso-Pérez, J.; Barrachina-Esteve, O.; González-Quereda, L.; Viguera-Martinez, M.L.; Luján-Torné, M.; Guitart-Feliubadaló, M.; Miguel Martínez, J.; Carbayo, Á.; Gallano, P.; Díaz-Manera, J.; Olivé, M.; Rojas-Garcia, R.
Neurología (English Edition). 40(5):433-441
Academic Journal
C. Domínguez-González; M.Á. Barba Romero; C. Caballero Eraso; J. de las Heras; E. Farrero Muñoz; Ó. García-Campos; M. González; J.M. Grau; A. Hernández-Voth; R. Juntas Morales; J.C. León Hernández; M. Ley Martos; D. López-Padilla; N. Muelas; A. Nascimento; M. Olivé; C. Paradas; J. Pardo Fernández; S.I. Pascual; I. Pitarch; J. Sancho; J. Díaz-Manera
Neurología, Vol 41, Iss 2, Pp 501933- (2026)
Academic Journal
Iammarino, M.A.; Alonso-Pérez, J.; Stojkovic, T.; Pegoraro, E.; Lowes, L.; Díaz-Manera, J.; Alonso-Pérez, Jorge; Borland, Hollie; Bruno, Claudio; Cárdenas, Laura; Claeys, Kristl; Ferrer, Marta de Antonio; Pace, Felipe Di; Ianmarino, Megan; James, Meredith; Johnson, Nicholas; Leonardis, Leo; Luce, Leonella; Miladi, Najoua; Mueller-York, Andre; Richard, Isabelle; Sanchez, Carles; Sandona, Dorianna; Talim, Beril; Tasca, Giorgio; Vasu, Suji; Weihl, Chris; Wenniger, Stephan; Belle, Aleksandra Leijenhorst Le; Stojkovic, Tanya; Pegoraro, Elena; Lowes, Linda; Diaz-Manera, Jordi; Hinloopen, Wilma
Neuromuscular Disorders. 54
Academic Journal
Torchia E; Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Lucchini M; Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Verdu-Diaz J; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Bortolani S; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Ravera B; Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Carlomagno V; Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Cicia A; Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Bernardo D; NeMO Clinical Center-Rome, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Monforte M; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Rehmann R; Department of Neurology, University Hospital Bergmannsheil, Ruhr University, Bochum, Germany.; Kley RA; Department of Neurology, St. Marien-Hospital Borken, Borken, Germany.; Sabatelli M; NeMO Clinical Center-Rome, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Díaz-Manera J; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Neuromuscular Diseases Laboratory, Insitut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.; Ricci E; Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Mirabella M; Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.; Tasca G; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Publisher: John Wiley & Sons Ltd on behalf of Society on Sarcopenia, Cachexia and Wasting Disorders Country of Publication: Germany NLM ID: 101552883 Publication Model: Print Cited Medium: Internet ISSN: 2190-6009 (Electronic) Linking ISSN: 21905991 NLM ISO Abbreviation: J Cachexia Sarcopenia Muscle Subsets: MEDLINE
Academic Journal
Peck, A. ; Dadi, A. ; Yavarow, Z. ; Alfano, L.N. ; Anderson, D. ; Arkin, M.R. ; Chou, T.F. ; D'Ambrosio, E.S. ; Diaz-Manera, J. ; Dudley, J.P. ; Elder, A.G. ; Ghoshal, N. ; Hart, C.E. ; Hart, M.M. ; Huryn, D.M. ; Johnson, A.E. ; Jones, K.B. ; Kimonis, V. ; Kiskinis, E. ; Lee, E.B. ; Lloyd, T.E. ; Mapstone, M. ; Martin, A. ; Meyer, H. ; Mozaffar, T. ; Onyike, C.U. ; Pfeffer, G. ; Pindon, A. ; Raman, M. ; Richard, I. ; Rubinsztein, D.C. ; Schiava, M. ; Schütz, A.K. ; Shen, P.S. ; Southworth, D.R. ; Staffaroni, A.M. ; Taralio-Gravovac, M. ; Weihl, C.C. ; Yao, Q. ; Ye, Y. ; Peck, N.
In Neurobiology of Disease April 2025 207
Academic Journal
Domínguez-González, C. ; Barba Romero, M.Á. ; Caballero Eraso, C. ; de las Heras, J. ; Farrero Muñoz, E. ; García-Campos, Ó. ; González, M. ; Grau, J.M. ; Hernández-Voth, A. ; Juntas Morales, R. ; León Hernández, J.C. ; Ley Martos, M. ; López-Padilla, D. ; Muelas, N. ; Nascimento, A. ; Olivé, M. ; Paradas, C. ; Pardo Fernández, J. ; Pascual, S.I. ; Pitarch, I. ; Sancho, J. ; Díaz-Manera, J.
In Neurología (English Edition) November 2024
Academic Journal
Vulto-van Silfhout, A.T.; Jazet, I.M.; Yzer, S.; Pas, J.A.A.H.; Demirdas, S.; van Rossum, E.F.C.; Thiadens, A.A.H.J.; van Beek, R.; Haer-Wigman, L.; Barge-Schaapveld, D.Q.C.M.; Brasch-Andersen, C.; Frost, S.; Bauwens, M.; De Baere, E.; Balikova, I.; Van den Broeck, F.; Weisz-Hubshman, M.; Joset, P.; Miny, P.; Filges, I.; Kohl, S.; De Angeli, P.; Kühlewein, L.; Bodenbender, J.P.; Haack, T.; Poths, K.; Fernandez-Caballero, L.; Corton, M.; Blanco Kelly, F.; Ayuso, C.; Martínez-Esteban, P.; Vissing, J.; Díaz-Manera, J.; Straub, V.; Töpf, A.; Lin, S.; Arno, G.; Macken, W.L.; Spillane, J.; Ramachandran, R.; de Vrieze, E.; van Ham, T.; Roosing, S.; Oud, M.M.
Silfhout, A V, Jazet, I M, Yzer, S, Pas, J , Demirdas, S, van Rossum, E F C, Thiadens, A A H J , van Beek, R, Haer-Wigman, L, Barge-Schaapveld, D Q C M, Brasch-Andersen, C, Frost, S, Bauwens, M, Baere, E D, Balikova, I, den Broeck, F V, Weisz-Hubshman, M, Joset, P, Miny, P, Filges, I, Kohl, S, Angeli, P D, Kühlewein, L, Bodenbender, J -P, Haack, T, Poths, K, Fernandez-Caballero, L, Corton, M, Kelly, F B, Ayuso, C, Martínez-Esteban, P, Vissing, J , Díaz -Manera , J , Straub, V, Töpf, A, Lin, S, Arno, G, Macken, W L, Spillane, J , Ramachandran, R, de Vrieze, E, van Ham, T, Roosing, S & Oud, M M 2025, 'Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy', Genetics in Medicine, vol. 27, no. 10, 101513. https://doi.org/10.1016/j .gim.2025.101513
Academic Journal
M. Schiava; J. Mannion; C. Castiglioni; J. Jofre; null Suarez; A. Roos; H. Kölbel; N. Witting; N. Muelas Gomez; P. Martí; J. Vílchez; A. Sarkozy; S. Rabinowicz; P. Martínez-Esteban; J. La Serna-Infantes; M. Sotelo-Muñoz; V. Straub; A. Gonzalez Chamorro; A. Töpf; J. Díaz-Manera
Neuromuscular Disorders. 53:105777
Academic Journal
Neuromuscular Disorders. 53:105778
Academic Journal
C. Domínguez-González; N. Muelas; C. Paradas; R. Martínez; M. Gómez; J. Restrepo; M. Campodron; G. Morís; V. Nedkova; J García García; M. Olivé; M. Mendoza; J. Alonso; L. Martín; J. Henao; A. Hernández-Voth; C. Puig; S. Segovia; J. Díaz-Manera
Neuromuscular Disorders. 53:106126
Academic Journal
Schoser, Benedikt; Kishnani, Priya S.; Bratkovic, Drago; Byrne, Barry J.; Claeys, Kristl G.; Díaz-Manera, Jordi; Laforêt, Pascal; Roberts, Mark; Toscano, Antonio; van der Ploeg, Ans T.; Castelli, Jeff; Goldman, Mitchell; Holdbrook, Fred; Sitaraman Das, Sheela; Wasfi, Yasmine; Mozaffar, Tahseen; the ATB200-07 Study Group; Sebok, Agnes; Pestronk, Alan; Dominovic-Kovacevic, Aleksandra; Khan, Aneal; Koritnik, Blaž; Tard, Celine; Lindberg, Christopher; Quinn, Colin; Eldridge, Crystal; Bodkin, Cynthia; Reyes-Leiva, David; Hughes, Derralynn; Stefanescu, Ela; Salort-Campana, Emmanuelle; Butler, Ernest; Bouhour, Francoise; Kim, Gee; Papadimas, George Konstantinos; Parenti, Giancarlo; Bartosik-Psujek, Halina; Kushlaf, Hani; Akihiro, Hashiguchi; Lau, Heather; Pedro, Helio; Andersen, Henning; Amartino, Hernan; Shiraishi, Hideaki; Kobayashi, Hiroshi; Tarnev, Ivaylo; Vengoechea, Jaime; Avelar, Jennifer; Shin, Jin-Hong; Nevin, John; Cauci, Jonathan; Alonso-Pérez, Jorge; Janszky, Jozsef; Berthy, Julie; Kornblum, Cornelia; Gutschmidt, Kristina; Molnar, Maria Judit; Wencel, Marie; Tarnopolsky, Mark; Boentert, Matthias; Tchan, Michel; Freimer, Miriam; Longo, Nicola; Abreu, Nicolas; Vidal-Fernandez, Nuria; Musumeci, Olimpia; Goker-Alpan, Ozlem; Deegan, Patrick; Clemens, Paula R.; Roxburgh, Richard; Henderson, Robert; Hopkin, Robert; Sacconi, Sabrina; Fecarotta, Simona; Attarian, Shahram; Wenninger, Stephan; Dearmey, Stephanie; Hiwot, Tarekegn; Burrow, Thomas; Ruck, Tobias; Sawada, Tomo; Laszlo, Vescei; Löscher, Wolfgang; Chien, Yin-Hsiu
Journal of Neurology, vol 271, iss 5
ATB200-07 Study Group & Andersen, H 2024, '104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease : a phase III open-label extension study (ATB200-07)', Journal of Neurology, vol. 271, no. 5, pp. 2810-2823. https://doi.org/10.1007/s00415-024-12236-0
Academic Journal
Andersen H; Aarhus Universitetshospital, Neurologisk Klinik, Kontorgangen, Indgang J, Plan 5, Kryspunkt 504, Palle Juul-Jensens Boulevard, Aarhus N 8200, Denmark.; Díaz-Manera J; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras, Barcelona, Spain.; Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA, USA.; Mozaffar T; Department of Neurology, University of California, Irvine, CA, USA.; Sitaraman Das S; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Fox B; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Amon F; Amicus Therapeutics, Inc., Princeton, NJ, USA.; O'Brien-Prince K; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Goldman M; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Holdbrook F; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Jain V; Amicus Therapeutics, Inc., Princeton, NJ, USA.; Byrne BJ; Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA.
Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE
Academic Journal
A. Toscano; D. Bratkovic; K. Claeys; J. Díaz-Manera; T. Mozaffar; M. Roberts; B. Schoser; A. van der Ploeg; V. Jain; F. Holdbrook; P. Moore; K. O'Brien-Prince; P. Kishnani
Neuromuscular Disorders. 53:105857
Academic Journal
Priya S. Kishnani; Barry J. Byrne; Kristl G. Claeys; Jordi Díaz-Manera; Mazen M. Dimachkie; Hani Kushlaf; Tahseen Mozaffar; Mark Roberts; Benedikt Schoser; Noemi Hummel; Agnieszka Kopiec; Fred Holdbrook; Simon Shohet; Antonio Toscano; on behalf of the PROPEL Study Group
Journal of Patient-Reported Outcomes, Vol 8, Iss 1, Pp 1-9 (2024)
Academic Journal
Boentert, Matthias; Berger, Kenneth I.; Díaz-Manera, Jordi; Dimachkie, Mazen M.; Hamed, Alaa; Riou França, Lionel; Thibault, Nathan; Shukla, Pragya; Ishak, Jack; Caro, J. Jaime
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Tawil, Rabi ; Wagner, Kathryn R ; Hamel, Johanna I ; Leung, Doris G ; Statland, Jeffrey M ; Wang, Leo H ; Genge, Angela ; Sacconi, Sabrina ; Lochmüller, Hanns ; Reyes-Leiva, David ; Diaz-Manera, Jordi ; Alonso-Perez, Jorge ; Muelas, Nuria ; Vilchez, Juan J ; Pestronk, Alan ; Gibson, Summer ; Goyal, Namita A ; Hayward, Lawrence J ; Johnson, Nicholas ; LoRusso, Samantha ; Freimer, Miriam ; Shieh, Perry B ; Subramony, S H ; van Engelen, Baziel ; Kools, Joost ; Leinhard, Olof Dahlqvist ; Widholm, Per ; Morabito, Christopher ; Moxham, Christopher M ; Cadavid, Diego ; Mellion, Michelle L ; Odueyungbo, Adefowope ; Tracewell, William G ; Accorsi, Anthony ; Ronco, Lucienne ; Gould, Robert J ; Shoskes, Jennifer ; Rojas, Luis Alejandro ; Jiang, John G
In The Lancet Neurology May 2024 23(5):477-486
Academic Journal
Díaz-Manera, Jordi ; Hughes, Derralynn ; Erdem-Özdamar, Sevim ; Tard, Céline ; Béhin, Anthony ; Bouhour, Françoise ; Davison, James ; Hahn, Si Houn ; Haack, Kristina An ; Huynh-Ba, Olivier ; Periquet, Magali ; Tammireddy, Swathi ; Thibault, Nathan ; Zhou, Tianyue ; van der Ploeg, Ans T.
In Molecular Genetics and Metabolism December 2024 143(4)
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