Search Results - "Muscular Dystrophy"

A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like by Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang, Jiewen Zhang

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A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping by Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally

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TAK1 inhibition improves myoblast differentiation and alleviates fibrosis in a mouse model of Duchenne muscular dystrophy by Dengqiu Xu, Sijia Li, Lu Wang, Jingwei Jiang, Lei Zhao, Xiaofei Huang, Zeren Sun, Chunjie Li, Lixin Sun, Xihua Li, Zhenzhou Jiang, Luyong Zhang

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Longitudinal assessment of skeletal muscle functional mechanics in the DE50-MD dog model of Duchenne muscular dystrophy by Dominique O. Riddell, John C. W. Hildyard, Rachel C. M. Harron, Frances Taylor-Brown, Joe N. Kornegay, Dominic J. Wells, Richard J. Piercy

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NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy by Naoki Watanabe, Tetsuya Nagata, Youhei Satou, Satoru Masuda, Takashi Saito, Hidetoshi Kitagawa, Hirofumi Komaki, Kazuchika Takagaki, Shin'ichi Takeda

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Association between blood eosinophil count and Duchenne muscular dystrophy severity and prognosis: a retrospective cohort study by Zhi Jiang, Hongmei Liao, Liwen Wu, Wenjing Hu, Liming Yang, Bo Chen, Zeshu Ning, Jingwen Tang, Rong Xu, Mei Chen, Feng Guo, Shulei Liu

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Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models by Andreia M. Nunes, Monique Ramirez, Takako I. Jones, Peter L. Jones

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Assessment of Weighted Gene Co-Expression Network Analysis to Explore Key Pathways and Novel Biomarkers in Muscular Dystrophy by Xu X, Hao Y, Wu J, Zhao J, Xiong S

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A Long-Term Study Evaluating the Effects of Nicorandil Treatment on Duchenne Muscular Dystrophy-Associated Cardiomyopathy in Mice by Melanie Gartz PhD, MS, MHS, Margaret Haberman BS, Mariah J. Prom BS, Margaret J. Beatka BS, Jennifer L. Strande MD, PhD, Michael W. Lawlor MD, PhD

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The Effect of Vitamin D Supplementation on Skeletal Muscle in the <i>mdx</i> Mouse Model of Duchenne Muscular Dystrophy by Danielle A. Debruin, Nicola Andreacchio, Erik D. Hanson, Cara A. Timpani, Emma Rybalka, Alan Hayes

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Congenital muscular dystrophy, cardiomyopathy, and peripheral neuropathy due to merosin deficiency: Peripheral nerve histology of cauda equina by Erika Hissong, M.D, Steven Salvatore, M.D, Kurenai Tanji, M.D., Ph.D, Ehud Lavi, M.D

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Increased Rates of Vitamin D Insufficiency in Boys With Duchenne Muscular Dystrophy Despite Higher Vitamin D Supplementation by Qian Bian MD, Laura McAdam MSc, MD, Marc Grynpas PhD, Jane Mitchell PhD, Jennifer Harrington MBBS, PhD

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Assessing the value of delandistrogene moxeparvovec (SRP-9001) gene therapy in patients with Duchenne muscular dystrophy in the United States by Alexa C. Klimchak, Lauren E. Sedita, Louise R. Rodino-Klapac, Jerry R. Mendell, Craig M. McDonald, Katherine L. Gooch, Daniel C. Malone

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The BALB/c.mdx62 mouse exhibits a dystrophic muscle pathology and is a model of Duchenne muscular dystrophy by Kristy Swiderski, Audrey S. Chan, Marco J. Herold, Andrew J. Kueh, Jin D. Chung, Justin P. Hardee, Jennifer Trieu, Annabel Chee, Timur Naim, Paul Gregorevic, Gordon S. Lynch

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Cellular Reprogramming, Genome Editing, and Alternative CRISPR Cas9 Technologies for Precise Gene Therapy of Duchenne Muscular Dystrophy by Peter Gee, Huaigeng Xu, Akitsu Hotta

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Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption by Richard B. Parad, Yvonne Sheldon, Arindam Bhattacharjee

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Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report by Kondakova Olga Borisovna, Krasnenko Anna Yurievna, Tsukanov Kirill Yurievich, Klimchuk Olesya Igorevna, Korostin Dmitriy Olegovich, Davidova Anna Igorevna, Batysheva Tatyana Timofeevna, Zhurkova Natalia Vyacheslavovna, Surkova Ekaterina Ivanovna, Shatalov Peter Alekseevich, Ilinsky Valery Vladimirovich

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Receptor interacting protein kinase‐3 mediates both myopathy and cardiomyopathy in preclinical animal models of Duchenne muscular dystrophy by Maximilien Bencze, Baptiste Periou, Isabel Punzón, Inès Barthélémy, Valentina Taglietti, Cyrielle Hou, Louai Zaidan, Kaouthar Kefi, Stéphane Blot, Onnik Agbulut, Marianne Gervais, Geneviève Derumeaux, François‐Jérôme Authier, Laurent Tiret, Fréderic Relaix

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Cardiac MRI and Echocardiography for Early Diagnosis of Cardiomyopathy Among Boys With Duchenne Muscular Dystrophy: A Cross-Sectional Study by Nidhi Prakash, Renu Suthar, Bhupendra Kumar Sihag, Uma Debi, Rohit Manoj Kumar, Naveen Sankhyan

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Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report by Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu, Zhichun Feng

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