Search Results - "Muscular Dystrophy"

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy by Oyazato Yoshinobu, Narukage Akiko, Saiki Kayoko, Takeshima Yasuhiro, Nishiyama Atsushi, Yagi Mariko, Matsuo Masafumi

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Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy by Linde F. Bouwman, Bianca den Hamer, Anita van den Heuvel, Marnix Franken, Michaela Jackson, Chrissa A. Dwyer, Stephen J. Tapscott, Frank Rigo, Silvère M. van der Maarel, Jessica C. de Greef

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Strategies for learning glossopharyngeal breathing in boys with Duchenne muscular dystrophy: A feasibility case series by Koshiro Haruyama, Yosuke Yamaha, Miyuki Ito, Tomoyoshi Otsuka, Michiyuki Kawakami

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Changes in cytosolic Ca2+ dynamics in the sarcoplasmic reticulum associated with the pathology of Duchenne muscular dystrophy by Jun Tanihata, Shin'ichi Takeda

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Evaluation of 2'-Deoxy-2'-fluoro Antisense Oligonucleotides for Exon Skipping in Duchenne Muscular Dystrophy by Silvana M G Jirka, Christa L Tanganyika-de Winter, Joke W Boertje-van der Meulen, Maaike van Putten, Monika Hiller, Rick Vermue, Peter C de Visser, Annemieke Aartsma-Rus

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A potential therapeutic effect of catalpol in Duchenne muscular dystrophy revealed by binding with TAK1 by Dengqiu Xu, Lei Zhao, Jingwei Jiang, Sijia Li, Zeren Sun, Xiaofei Huang, Chunjie Li, Tao Wang, Lixin Sun, Xihua Li, Zhenzhou Jiang, Luyong Zhang

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The Mini-Mental State Examination (MMSE) as a Cognitive Screening Tool in Duchenne Muscular Dystrophy by Flávia Nardes, Alexandra Prufer de Queiroz Campos Araújo, Márcia Gonçalves Ribeiro, Maíta Bittar, Hanid Fontes Gomes

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A unique approach to resolving a difficult intubation in a patient with duchenne muscular dystrophy by Amardeep Heyer, Yuri Shevchenko, Jay Parekh

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BB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy by Vanessa Strings-Ufombah, Alberto Malerba, Shih-Chu Kao, Sonal Harbaran, Fanny Roth, Ornella Cappellari, Ngoc Lu-Nguyen, Keiko Takahashi, Sophie Mukadam, Georgina Kilfoil, Claudia Kloth, Petrus Roelvink, George Dickson, Capucine Trollet, David Suhy

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A qualitative study to understand the Duchenne muscular dystrophy experience from the parent/patient perspective by Victoria Brown, Elizabeth Merikle, Kelly Johnston, Katherine Gooch, Ivana Audhya, Linda Lowes

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Validation of DE50-MD dogs as a model for the brain phenotype of Duchenne muscular dystrophy by Abbe H. Crawford, John C. W. Hildyard, Sophie A. M. Rushing, Dominic J. Wells, Maria Diez-Leon, Richard J. Piercy

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A 3D adipogenesis platform to study the fate of fibro/adipogenic progenitors in muscular dystrophies by Alessio Reggio, Francesca De Paolis, Salma Bousselmi, Felice Cicciarelli, Sergio Bernardini, Alberto Rainer, Dror Seliktar, Stefano Testa, Carmine Cirillo, Paolo Grumati, Stefano Cannata, Claudia Fuoco, Cesare Gargioli

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Characterizing the quality-of-life impact of Duchenne muscular dystrophy on caregivers: a case-control investigation by Carolyn E. Schwartz, Roland B. Stark, Ivana F. Audhya, Katherine L. Gooch

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Unique pattern of late gadolinium enhancement on cardiac magnetic resonance imaging in Duchenne muscular dystrophy by Madhusudan Ganigara, Bharti Sharma, Ravi Babu Komalla, Suman Y Vyas, Gopichand Mannam, Nitin Krishna Rao

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Early prophylaxis of cardiomyopathy with beta-blockers and angiotensin receptor blockers in patients with Duchenne muscular dystrophy by Heirim Lee, Jinyoung Song, I-Seok Kang, June Huh, Jin A Yoon, Yong Beom Shin

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Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy by Liubov V. Gushchina, Tatyana A. Vetter, Emma C. Frair, Adrienne J. Bradley, Kelly M. Grounds, Jacob W. Lay, Nianyuan Huang, Aisha Suhaiba, Frederick J. Schnell, Gunnar Hanson, Tabatha R. Simmons, Nicolas Wein, Kevin M. Flanigan

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p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy by Darko Bosnakovski, Micah D. Gearhart, Erik A. Toso, Olivia O. Recht, Anja Cucak, Abhinav K. Jain, Michelle C. Barton, Michael Kyba

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Iron overload and impaired iron handling contribute to the dystrophic pathology in models of Duchenne muscular dystrophy by Francesca M. Alves, Kai Kysenius, Marissa K. Caldow, Justin P. Hardee, Jin D. Chung, Jennifer Trieu, Dominic J. Hare, Peter J. Crouch, Scott Ayton, Ashley I. Bush, Gordon S. Lynch, René Koopman

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A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy by Kate Williams, Ian Davidson, Mark Rance, Katharina Buesch, Sarah Acaster

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The development of myasthenia gravis in a patient with facioscapulohumeral muscular dystrophy: case report and literature review by Feryal Nauman, Muhammad Fawwad Ahmed Hussain, Ahmet Burakgazi

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