Below are the most recent publications written about "Muscular Diseases" by people in Profiles.
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Strauss KA, Carson VJ, Bolettieri E, Everett M, Bollinger A, Bowser LE, Beiler K, Young M, Edvardson S, Fraenkel N, D'Amico A, Bertini E, Lingappa L, Chowdhury D, Lowes LP, Iammarino M, Alfano LN, Brigatti KW. WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy. Ann Clin Transl Neurol. 2023 11; 10(11):1972-1984.
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Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Mat? S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies. Genes (Basel). 2023 01 23; 14(2).
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Gonzalez-Franquesa A, Stocks B, Borg ML, Kuefner M, Dalbram E, Nielsen TS, Agrawal A, Pankratova S, Chibalin AV, Karlsson HKR, Gheibi S, Bj?rnholm M, J?rgensen NR, Clemmensen C, Hostrup M, Treebak JT, Krook A, Zierath JR, Deshmukh AS. Discovery of thymosin ?4 as a human exerkine and growth factor. Am J Physiol Cell Physiol. 2021 11 01; 321(5):C770-C778.
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Biscans A, Caiazzi J, McHugh N, Hariharan V, Muhuri M, Khvorova A. Docosanoic acid conjugation to siRNA enables functional and safe delivery to skeletal and cardiac muscles. Mol Ther. 2021 04 07; 29(4):1382-1394.
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Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, G?tzl R, Luna EJ, Lochm?ller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain. 2020 08 01; 143(8):2406-2420.
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Judge SM, Deyhle MR, Neyroud D, Nosacka RL, D'Lugos AC, Cameron ME, Vohra RS, Smuder AJ, Roberts BM, Callaway CS, Underwood PW, Chrzanowski SM, Batra A, Murphy ME, Heaven JD, Walter GA, Trevino JG, Judge AR. MEF2c-Dependent Downregulation of Myocilin Mediates Cancer-Induced Muscle Wasting and Associates with Cachexia in Patients with Cancer. Cancer Res. 2020 05 01; 80(9):1861-1874.
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Zieger M, Keeler AM, Flotte TR, ElMallah MK. AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2019 09; 42(5):870-877.
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Morelli FF, Verbeek DS, Bertacchini J, Vinet J, Mediani L, Marmiroli S, Cenacchi G, Nasi M, De Biasi S, Brunsting JF, Lammerding J, Pegoraro E, Angelini C, Tupler R, Alberti S, Carra S. Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function. Cell Rep. 2017 Aug 29; 20(9):2100-2115.
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Nuutila K, Sakthivel D, Kruse C, Tran P, Giatsidis G, Sinha I. Gene expression profiling of skeletal muscle after volumetric muscle loss. Wound Repair Regen. 2017 05; 25(3):408-413.
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Flotte TR, Gao G. AAV Is Now a Medicine: We Had Better Get This Right. Hum Gene Ther. 2017 04; 28(4):307.