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'학술논문'
에서 검색결과 4건 | 목록
1~20
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Academic Journal
Bladen, Catherine L.; Salgado, David; Monges, Soledad; Foncuberta, Maria E.; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J.; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C.; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaïda; van den Bergen, Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Zimowski, Janusz; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Jeannet, Pierre-Yves; Joncourt, Franziska; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, Ayşe A.; Topaloğlu, Haluk; El Sherif, Rasha; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Bellgard, Matthew I.; Kirschner, Jan; Flanigan, Kevin M.; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Aartsma-Rus, Annemieke; Béroud, Christophe; Lochmüller, Hanns
Human Mutation. Apr 01, 2015 36(4):395-402
Academic Journal
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; Mcmacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lähdetie, Jaana; Walter, Maggie C; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Ferlini, Alessandra; Kimura, En; van den Bergen, Jan; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Klein, Andrea; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, a Ayşe; Oznur, Tunca; Topaloğlu, Haluk; El Sherif, Rasha; Stringer, Angela; Shatillo, Andriy V; Martin, Ann S; Peay, Holly L; Kirschner, Jan J; Flanigan, Kevin M; Straub, Volker; Bushby, Kate; Béroud, Christophe; Verschuuren, Jan J; Lochmuller, Hanns
J Neuromuscul Dis
Repisalud
Instituto de Salud Carlos III (ISCIII)
Paediatrics Publications
Journal of neuromuscular diseases, vol. 4, no. 4, pp. 293-306
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280
Journal of Neuromuscular Diseases
Repisalud
Instituto de Salud Carlos III (ISCIII)
Paediatrics Publications
Journal of neuromuscular diseases, vol. 4, no. 4, pp. 293-306
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280
Journal of Neuromuscular Diseases
Academic Journal
Bladen, Catherine; Thompson, Rachel; Jackson, Jacqueline M; Garland, Connie; Wegel, Claire; Ambrosini, Anna; Pisano, Paolo; Walter, Maggie C; Schreiber, Olivia; Lusakowska, Anna; Jedrzejowska, Maria; Kostera-Pruszczyk, Anna; van Der Pol, Ludo; Wadman, Renske I; Gredal, Ole; Karaduman, Ayse; Topaloglu, Haluk; Yilmaz, Öznur; Matyushenko, Vitaliy; Rasic, Vedrana Milic; Kosac, Ana; Karcagi, Veronika; Garami, Marta; Herczegfalvi, Agnes; Monges, Soledad; Moresco, Angelica; Chertkoff, Lilien; Chamova, Teodora; Guergueltcheva, Velina; Butoianu, Niculina; Craiu, Dana; Korngut, Lawrence; Campbell, Craig; Haberlova, Jan; Strenkova, Jan; Alejandro, Moises; Jimenez, Alatorre; Ortiz, Genaro Gabriel; Enriquez, Gracia Viviana Gonzalez; Rodrigues, Miriam; Roxburgh, Richard; Dawkins, Hugh; Youngs, Leanne; Lahdetie, Jaana; Angelkova, Natalija; Saugier-Veber, Pascal; Cuisset, Jean-Marie; Bloetzer, Clemens; Jeannet, Pierre-Yves; Klein, Andrea; Nascimento, Andres; Tizzano, Eduardo; Salgado, David; Mercuri, Eugenio; Sejersen, Thomas; Kirschner, Jan; Rafferty, Karen; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Béroud, Christophe; Lochmuller, Hanns; Jackson, Jacqueline M.; Walter, Maggie C.; Wadman, Renske I.
JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Academic Journal
Vry J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.; Gramsch K; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.; Rodger S; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.; Thompson R; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.; Steffensen BF; National Rehabilitation Center for Neuromuscular Diseases, Aarhus, Denmark.; Rahbek J; National Rehabilitation Center for Neuromuscular Diseases, Aarhus, Denmark.; Doerken S; Institute for Medical Biometry and Statistics, Faculty of Medicine and Medical Center - University of Freiburg, Freiburg, Germany.; Tassoni A; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.; Beytía ML; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.; Guergueltcheva V; Medical University of Sofia, Department of Neurology, University Hospital Sofiamed and Bulgarian Neuromuscular Disorders Society, Sofia, Bulgaria.; Chamova T; Medical University of Sofia, Department of Neurology, University Hospital Alexandrovska and Bulgarian Neuromuscular Disorders Society, Sofia, Bulgaria.; Tournev I; Medical University of Sofia, Department of Neurology, University Hospital Alexandrovska and Bulgarian Neuromuscular Disorders Society, Sofia, Bulgaria.; Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Kaminska A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Lusakowska A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Mrazova L; Department of Paediatric Neurology, University Hospital in Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic.; Pavlovska L; Institute of Biostatistics and Analyses, Masaryk University Brno, Czech Republic.; Strenkova J; Institute of Biostatistics and Analyses, Masaryk University Brno, Czech Republic.; Vondráček P; Department of Paediatric Neurology, University Hospital in Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic.; Garami M; Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health, Budapest, Hungary.; Karcagi V; Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health, Budapest, Hungary.; Herczegfalvi Á; Department of Pediatrics, Semmelweis University, Budapest, Hungary.; Bushby K; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.; Lochmüller H; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Print ISSN: 2214-3599 (Print) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
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