Search Results - "Muscular Dystrophy"

GRMD cardiac and skeletal muscle metabolism gene profiles are distinct by Larry W. Markham, Candice L. Brinkmeyer-Langford, Jonathan H. Soslow, Manisha Gupte, Douglas B. Sawyer, Joe N. Kornegay, Cristi L. Galindo

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Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD by Sara Aguti, Véronique Bolduc, Pierpaolo Ala, Mark Turmaine, Carsten G. Bönnemann, Francesco Muntoni, Haiyan Zhou

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A Novel Mutation Of The EMD Gene In A Family With Cardiac Conduction Abnormalities And A High Incidence Of Sudden Cardiac Death by Kong D, Zhan Y, Liu C, Hu Y, Zhou Y, Luo J, Gu L, Zhou X, Zhang Z

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First person - Melanie Gartz

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Clinical-evolutionary considerations in Duchenne Dystrophy by Cristina Elena Singer, Simona Cosoveanu, Ileana Octavia Petrescu, Maria Singer, Amelia Dobrescu, Mihaela Popescu, Alin Iulian Silviu Popescu

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The use of genetically humanized animal models for personalized medicine approaches by Annemieke Aartsma-Rus, Maaike van Putten, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

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A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family by Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju, Yan-Shan Liu

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Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review by Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Maria Inés Frayre-Martínez, Georgina Siordia-Reyes, Claudia C. Guízar-Sánchez, Humberto García-Ortiz, Lorena Orozco, Vicente Baca

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Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations by Ruizhong Wang, Brijesh Kumar, Emma H. Doud, Amber L. Mosley, Matthew S. Alexander, Louis M. Kunkel, Harikrishna Nakshatri

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Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families by Mengmeng Li, Na Hao, Fengxia Yao, Weimin Zhang, Jing Zhou, Li Tan, Zhengqing Qiu, Juntao Liu, Yang Pan

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Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration by Haiyan Yang, Fang Cai, Hongmei Liao, Siyi Gan, Ting Xiao, Liwen Wu

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Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview by David Mantle, Iain Parry Hargreaves

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Adenylosuccinic Acid Is a Non-Toxic Small Molecule In Vitro and In Vivo by Cara A. Timpani, Lorna Rasmussen, Emma Rybalka

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Plasma cell gingivitis: A case report by Aravinda Konidena, Gagan Puri, Deepa Jatti, Simarjeev Singh

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A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse by Claire L. Wood, Karla J. Suchacki, Rob van 't Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

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Dystrophin R16/17 protein therapy restores sarcolemmal nNOS in trans and improves muscle perfusion and function by Junling Zhao, Hsiao Tung Yang, Lakmini Wasala, Keqing Zhang, Yongping Yue, Dongsheng Duan, Yi Lai

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Prevalensi, Spektrum Klinis dan Gambaran Neurofisiologi Kasus Neuromuskular by Mia Milanti Dewi, Dwi Putro Widodo, Roy Amardiyanto, Nurcahaya Sinaga, Nurul Hidayah

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A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data by Zhihao Xie, Chang Liu, Chengyue Sun, Yanyu Lu, Shiyi Wu, Yilin Liu, Qi Wang, Yalan Wan, Yikang Wang, Meng Yu, Lingchao Meng, Jianwen Deng, Wei Zhang, Zhaoxia Wang, Chunxia Yang, Yun Yuan, Zhiying Xie

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Skeletal muscle regeneration and muscle progenitor cells by Norio Motohashi, Matthew S. Alexander, Louis M. Kunkel

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Tempol Supplementation Restores Diaphragm Force and Metabolic Enzyme Activities in mdx Mice by David P. Burns, Izza Ali, Clement Rieux, James Healy, Greg Jasionek, Ken D. O'Halloran

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