Zobrazeno 1 - 10
of 1 959
pro vyhledávání: '"Abresch, Rt"'
Autor:
Mercuri, E, Muntoni, F, Osorio, An, Tulinius, M, Buccella, F, Morgenroth, Lp, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, J, Kristensen, A, Santos, Cl, Henricson, Ek, Mcdonald, Cm, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintovà, Z, Danhofer, P, Fabulovà, P, Jurıkovà, L, Fuchsovà, P, Haberlovà, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Péréon, Y, Cuisset, J-M, Coopman-Degryse, S, Enaud, E, Jacquemont, M-L, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, Lv, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, Jb, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D’Amico, A, Pane, E, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, Gl, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, A-M, Alhaswani, Z, Roper, H, Parasuraman, D, Degoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, Wd, Mcadam, Lc, Mah, Jh, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, Rt, Joyce, Nc, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, Pr, Abdel-Hamid, H, Connolly, Am, Pestronk, A, Teasley, J, Harper, A, Bertorini, Te, Kuntz, N, Driscoll, S, Day, Jw, Karachunski, P, Lotze, T.
Publikováno v:
Pediatric Neurology Briefs
Journal of Comparative Effectiveness Research
Journal of Comparative Effectiveness Research
Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).
Autor:
McDonald CM; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA., Ramirez-Sanchez I; Division of Cardiology, Department of Internal Medicine, University of California at San Diego, San Diego, California, USA.; Escuela Superior de Medicina, Seccion de Posgrado e Investigacion, del Instituto Politécnico Nacional, Mexico City, Mexico., Oskarsson B; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA., Joyce N; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA., Aguilar C; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA., Nicorici A; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA., Dayan J; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA., Goude E; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA., Abresch RT; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA., Villarreal F; Division of Cardiology, Department of Internal Medicine, University of California at San Diego, San Diego, California, USA., Ceballos G; Escuela Superior de Medicina, Seccion de Posgrado e Investigacion, del Instituto Politécnico Nacional, Mexico City, Mexico., Perkins G; Division of Cardiology, Department of Internal Medicine, University of California at San Diego, San Diego, California, USA., Dugar S; Epirium Bio, Inc (formerly Cardero Therapeutics, Inc), San Diego, California, USA., Schreiner G; Epirium Bio, Inc (formerly Cardero Therapeutics, Inc), San Diego, California, USA., Henricson EK; Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, USA.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2021 Feb; Vol. 63 (2), pp. 239-249. Date of Electronic Publication: 2020 Dec 16.
Autor:
Bourgeois Yoshioka, Clémence Kiho1,2 (AUTHOR), Takenaka-Ninagawa, Nana1,3 (AUTHOR) nana.takenaka@cira.kyoto-u.ac.jp, Goto, Megumi1 (AUTHOR), Miki, Mayuho1,2 (AUTHOR), Watanabe, Daiki4,5 (AUTHOR), Yamamoto, Masamichi5 (AUTHOR), Aoyama, Tomoki2 (AUTHOR), Sakurai, Hidetoshi1 (AUTHOR) hsakurai@cira.kyoto-u.ac.jp
Publikováno v:
Stem Cell Research & Therapy. 9/19/2024, Vol. 15 Issue 1, p1-24. 24p.
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Autor:
Zhao, Lei1 (AUTHOR), Shi, Yiyun1 (AUTHOR), Hu, Chaoping1 (AUTHOR), Zhou, Shuizhen1 (AUTHOR), Li, Hui2 (AUTHOR), Zhang, Lifeng3 (AUTHOR), Qian, Chuang4 (AUTHOR), Zhou, Yiyao5 (AUTHOR), Wang, Yi1 (AUTHOR) yiwang@shmu.edu.cn, Li, Xihua1 (AUTHOR) xihual@vip.sina.com
Publikováno v:
Orphanet Journal of Rare Diseases. 8/24/2024, Vol. 19 Issue 1, p1-14. 14p.
Autor:
Hartman JM; Medical Scientist Training Program, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department for Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, 23298, USA., Ikegami K; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, 23298, USA., Provenzano M; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, 23298, USA., Bates K; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, 23298, USA., Butler A; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Children's Hospital of Richmond at Virginia Commonwealth University, Pediatric Therapy Services, Richmond, Virginia, 23220, USA., Jones AS; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Children's Hospital of Richmond at Virginia Commonwealth University, Pediatric Therapy Services, Richmond, Virginia, 23220, USA., Berggren KN; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, 23298, USA., Dekdebrun J; Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, 14642, USA., McKay MJ; Sydney School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, 2006, Australia., Baldwin JN; Sydney School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, 2006, Australia., Cornett KMD; Sydney School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, 2006, Australia.; Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, New South Wales, Australia., Burns J; Sydney School of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, 2006, Australia.; Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, New South Wales, Australia., Kiefer M; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department of Physical Therapy, Virginia Commonwealth University, Richmond, Virginia, 23298, USA., Johnson NE; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department for Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, 23298, USA., Hale MA; Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.; Department for Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Oct 25. Date of Electronic Publication: 2024 Oct 25.
Autor:
Pascual-Morena C; Health and Social Research Center, Universidad de Castilla-La Mancha, Cuenca, Spain.; Facultad de Enfermería de Albacete, Universidad de Castilla-La Mancha, Albacete, Spain., Lucerón-Lucas-Torres M; Health and Social Research Center, Universidad de Castilla-La Mancha, Cuenca, Spain., Martínez-García I; CarVasCare Research Group, Facultad Enfermería de Cuenca, Universidad de Castilla-La Mancha, 16071, Cuenca, Spain. irene.mgarcia@uclm.es., Rodríguez-Gutiérrez E; Health and Social Research Center, Universidad de Castilla-La Mancha, Cuenca, Spain., Patiño-Cardona S; Health and Social Research Center, Universidad de Castilla-La Mancha, Cuenca, Spain., Sequí-Domínguez I; Health and Social Research Center, Universidad de Castilla-La Mancha, Cuenca, Spain.
Publikováno v:
Paediatric drugs [Paediatr Drugs] 2024 Sep 27. Date of Electronic Publication: 2024 Sep 27.
Autor:
Muntoni, Francesco1 (AUTHOR), Signorovitch, James2,3 (AUTHOR) James.signorovitch@analysisgroup.com, Sajeev, Gautam2 (AUTHOR), Done, Nicolae2 (AUTHOR), Yao, Zhiwen2 (AUTHOR), Goemans, Nathalie4 (AUTHOR), McDonald, Craig5 (AUTHOR), Mercuri, Eugenio6 (AUTHOR), Niks, Erik H.7 (AUTHOR), Wong, Brenda8 (AUTHOR), Vandenborne, Krista9 (AUTHOR), Straub, Volker10 (AUTHOR), de Groot, Imelda J. M.11 (AUTHOR), Tian, Cuixia12 (AUTHOR), Manzur, Adnan1 (AUTHOR), Dieye, Ibrahima2 (AUTHOR), Lane, Henry2 (AUTHOR), Ward, Susan J.3 (AUTHOR), Servais, Laurent13,14 (AUTHOR)
Publikováno v:
PLoS ONE. 7/10/2024, Vol. 19 Issue 7, p1-18. 18p.
Expanded‐access use of elamipretide in a patient with membrane protein‐associated neurodegeneration.
Autor:
Patino, Jorge1 (AUTHOR) jorge.e.patinomurillas@uth.tmc.edu, Clearman, Anna Haertling2 (AUTHOR), Miller, Lindsey2 (AUTHOR), Koenig, Mary Kay2 (AUTHOR)
Publikováno v:
Clinical Case Reports. Jul2024, Vol. 12 Issue 7, p1-5. 5p.
Autor:
McDonald, Craig M.1 (AUTHOR), Signorovitch, James2,3 (AUTHOR) james.signorovitch@analysisgroup.com, Mercuri, Eugenio4 (AUTHOR), Niks, Erik H.5 (AUTHOR), Wong, Brenda6 (AUTHOR), Fillbrunn, Mirko2 (AUTHOR), Sajeev, Gautam2 (AUTHOR), Yim, Erica2 (AUTHOR), Dieye, Ibrahima2 (AUTHOR), Miller, Debra7 (AUTHOR), Ward, Susan J.3 (AUTHOR), Goemans, Nathalie8 (AUTHOR)
Publikováno v:
PLoS ONE. 6/3/2024, Vol. 19 Issue 6, p1-20. 20p.
Publikováno v:
Annals of Indian Academy of Neurology. May/Jun2024, Vol. 27 Issue 3, p282-288. 7p.