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11 |
Material Type: Artículo
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Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care SettingNikhanj, Anish ; Yogasundaram, Haran ; Miskew Nichols, Bailey ; Richman-Eisenstat, Janice ; Phan, Cecile ; Bakal, Jeffrey A ; Siddiqi, Zaeem A ; Oudit, Gavin YJournal of the American Heart Association, 2020-01, Vol.9 (2), p.e014004-e014004 [Revista revisada por pares]England: John Wiley and Sons IncTexto completo disponible |
12 |
Material Type: Artículo
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Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathyDai, Yi ; Liang, Shengran ; Dong, Xue ; Zhao, Yanhuan ; Ren, Haitao ; Guan, Yuzhou ; Yin, Haifang ; Li, Chen ; Chen, Lin ; Cui, Liying ; Banerjee, SantasreeJournal of cellular and molecular medicine, 2019-02, Vol.23 (2), p.811-818 [Revista revisada por pares]England: John Wiley and Sons IncTexto completo disponible |
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Material Type: Artículo
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The current status of medical care for myotonic dystrophy type 1 in the national registry of JapanYamauchi, Kosuke ; Matsumura, Tsuyoshi ; Takada, Hiroto ; Kuru, Satoshi ; Kobayashi, Michio ; Kubota, Tomoya ; Kimura, En ; Nakamura, Harumasa ; Takahashi, Masanori P.Muscle & nerve, 2023-05, Vol.67 (5), p.387-393 [Revista revisada por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponible |
14 |
Material Type: Artículo
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Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular DystrophyBostock, Emma L ; Edwards, Bryn T ; Jacques, Matthew F ; Pogson, Jake T S ; Reeves, Neil D ; Onambele-Pearson, Gladys L ; Morse, Christopher INutrients, 2018-12, Vol.10 (12), p.1947 [Revista revisada por pares]Switzerland: MDPI AGTexto completo disponible |
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Material Type: Artículo
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Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21Martinez‐Thompson, Jennifer M. ; Niu, Zhiyv ; Tracy, Jennifer A. ; Moore, Steven A. ; Swenson, Andrea ; Wieben, Eric D. ; Milone, MargheritaMuscle & nerve, 2018-04, Vol.57 (4), p.679-683 [Revista revisada por pares]United States: Wiley Subscription Services, IncTexto completo disponible |
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Material Type: Artículo
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The cooperative international neuromuscular research group duchenne natural history study-a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods usedMcDonald, Craig M. ; Henricson, Erik K. ; Abresch, R. Ted ; Han, Jay J. ; Escolar, Diana M. ; Florence, Julaine M. ; Duong, Tina ; Arrieta, Adrienne ; Clemens, Paula R. ; Hoffman, Eric P. ; Cnaan, AvitalMuscle & nerve, 2013-07, Vol.48 (1), p.32-54 [Revista revisada por pares]United States: Blackwell Publishing LtdTexto completo disponible |
17 |
Material Type: Artículo
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Fibronectin is a serum biomarker for Duchenne muscular dystrophyCynthia Martin, F. ; Hiller, Monika ; Spitali, Pietro ; Oonk, Stijn ; Dalebout, Hans ; Palmblad, Magnus ; Chaouch, Amina ; Guglieri, Michela ; Straub, Volker ; Lochmüller, Hanns ; Niks, Erik H. ; Verschuuren, Jan J. G. M. ; Aartsma-Rus, Annemieke ; Deelder, André M. ; van der Burgt, Yuri E. M. ; 't Hoen, Peter A. C.Proteomics. Clinical applications, 2014-04, Vol.8 (3-4), p.269-278 [Revista revisada por pares]Germany: Blackwell Publishing LtdTexto completo disponible |
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Material Type: Artículo
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Care for capabilities: Implementing the capability approach in rehabilitation of patients with neuromuscular diseases. Study protocol of the controlled before-after ReCap-NMD studyBloemen, Bart ; Pijpers, Eirlys ; Cup, Edith ; Groothuis, Jan ; van Engelen, Baziel ; van der Wilt, Gert Jan Phillips, ThomasPloS one, 2021-12, Vol.16 (12), p.e0261475 [Revista revisada por pares]United States: Public Library of ScienceTexto completo disponible |
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Material Type: Artículo
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Very Low Residual Dystrophin Quantity Is Associated with Milder DystrophinopathyFeraudy, Yvan ; Ben Yaou, Rabah ; Wahbi, Karim ; Stalens, Caroline ; Stantzou, Amalia ; Laugel, Vincent ; Desguerre, Isabelle ; Servais, Laurent ; Leturcq, France ; Amthor, HelgeAnnals of neurology, 2021-02, Vol.89 (2), p.280-292 [Revista revisada por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponible |
20 |
Material Type: Artículo
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Importance of early diagnosis in LMNA‐related muscular dystrophy for cardiac surveillanceChoi, Sun Ah ; Cho, Anna ; Kim, Soo Yeon ; Kim, Woo Joong ; Shim, Young Kyu ; Lee, Jin Sook ; Jang, Se Song ; Lim, Byung Chan ; Kim, Hunmin ; Hwang, Hee ; Choi, Ji Eun ; Kim, Ki Joong ; Kim, Man Jin ; Seong, Moon‐Woo ; Chae, Jong‐HeeMuscle & nerve, 2019-12, Vol.60 (6), p.668-672 [Revista revisada por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponible |