Résultats de la recherche - "Muscular Dystrophy"

A Novel MAO-B/SSAO Inhibitor Improves Multiple Aspects of Dystrophic Phenotype in <i>mdx</i> Mice par Francesca Gasparella, Leonardo Nogara, Elena Germinario, Lucia Tibaudo, Stefano Ciciliot, Giorgia Piccoli, Francisca Carolina Venegas, Francesca Fontana, Gabriele Sales, Daniele Sabbatini, Jonathan Foot, Wolfgang Jarolimek, Bert Blaauw, Marcella Canton, Libero Vitiello

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Signaling through the dystrophin glycoprotein complex affects the stress-dependent transcriptome in Drosophila par Travis D. Carney, Rucha Y. Hebalkar, Evgeniia Edeleva, Ibrahim Ömer Çiçek, Halyna R. Shcherbata

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Pediatric Neuromuscular Diseases and Psychosocial Wellbeing: Why We Also Need to Invest in Digital Platforms par Oliver Gruebner, Oliver Gruebner, Suzanne Elayan, Martin Sykora, Markus Wolf, Michael von Rhein, Marta Fadda

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Ryanodine receptor type 1 content decrease‐induced endoplasmic reticulum stress is a hallmark of myopathies par Jeremy Vidal, Eric A. Fernandez, Martin Wohlwend, Pirkka‐Pekka Laurila, Andrea Lopez‐Mejia, Julien Ochala, Alexander J. Lobrinus, Bengt Kayser, Isabel C. Lopez‐Mejia, Nicolas Place, Nadège Zanou

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The glucocorticoid receptor acts locally to protect dystrophic muscle and heart during disease par Trinitee Oliver, Nhu Y. Nguyen, Christopher B. Tully, Nikki M. McCormack, Christina M. Sun, Alyson A. Fiorillo, Christopher R. Heier

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Dystrophin in Fetal Muscle par J Gordon Millichap

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Dystrophinopathy in Females par J Gordon Millichap

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P2X7 Purinoceptor Affects Ectopic Calcification of Dystrophic Muscles par Robin M. H. Rumney, Justyna Róg, Natalia Chira, Alexander P. Kao, Rasha Al-Khalidi, Dariusz C. Górecki, Dariusz C. Górecki

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Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis par Chunxiao Hua, Lina Liu, Xiangdong Kong

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Muscle ultrastructure and histopathological findings in a Brazilian single-centre series of genetically classified telethoninopathy patients par Ana Cotta, Elmano Carvalho, Antonio Lopes da-, Eni Braga da Silveira, Bruno Arrivabene Cordeiro, Maria Isabel Lima, Monica Machado Navarro, Frederico Godinho, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes-Neves, Antonio Pedro Vargas, Rafael Xavier da-, Cynthia Costa-, Reinaldo Issao Takata, Alexandre Faleiros Cauhi, Julia Filardi Paim, Mariz Vainzof

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RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice par Jian Liu, Lindsay M Wallace, Sara E Garwick-Coppens, Darcée D Sloboda, Carol S Davis, Chady H Hakim, Michael A Hauser, Susan V Brooks, Jerry R Mendell, Scott Q Harper

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Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases par Elisa Ferrer-Mallol, Clare Matthews, Madeline Stoodley, Alessandra Gaeta, Elinor George, Emily Reuben, Alex Johnson, Elin Haf Davies

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Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations par Tuğçe Aksu Uzunhan, Biray Ertürk, Pelin Özyavuz Çubuk, Bülent Uyanık, Akif Ayaz, Onur Akan, Taha Reşid Özdemir

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MAPK signaling pathways and HDAC3 activity are disrupted during differentiation of emerin-null myogenic progenitor cells par Carol M. Collins, Joseph A. Ellis, James M. Holaska

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Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report par Adrian Giucă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu, Ruxandra Jurcuţ

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Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model par Velina Kozareva, Clayton Stroff, Maxwell Silver, Jonathan F. Freidin, Nigel F. Delaney

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Cognition in Duchenne Dystrophy and Mutation Site par J Gordon Millichap

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DUX4 expression activates JNK and p38 MAP kinases in myoblasts par Christopher M. Brennan, Abby S. Hill, Michael St. Andre, Xianfeng Li, Vijaya Madeti, Susanne Breitkopf, Seth Garren, Liang Xue, Tamara Gilbert, Angela Hadjipanayis, Mara Monetti, Charles P. Emerson, Robert Moccia, Jane Owens, Nicolas Christoforou

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Serum Transaminase in Duchenne Dystrophy par J Gordon Millichap

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Diagnosis and Treatment of Dermatomyositis par J Gordon Millichap

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