Below are the most recent publications written about "Muscular Dystrophies" by people in Profiles.
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Merlini L, Sabatelli P, Gualandi F, Redivo E, Di Martino A, Faldini C. New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients. Int J Mol Sci. 2023 Aug 05; 24(15).
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Sabatelli P, Merlini L, Di Martino A, Cenni V, Faldini C. Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy. Int J Environ Res Public Health. 2022 01 23; 19(3).
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Antoniel M, Traina F, Merlini L, Andrenacci D, Tigani D, Santi S, Cenni V, Sabatelli P, Faldini C, Squarzoni S. Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. Cells. 2020 02 11; 9(2).
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Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, Garc?a-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, M?hlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248.
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Castagnaro S, Pellegrini C, Pellegrini M, Chrisam M, Sabatelli P, Toni S, Grumati P, Ripamonti C, Pratelli L, Maraldi NM, Cocchi D, Righi V, Faldini C, Sandri M, Bonaldo P, Merlini L. Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial. Autophagy. 2016 12; 12(12):2484-2495.
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Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD. GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. Hum Mutat. 2015 Dec; 36(12):1159-63.
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Dey BK, Mueller AC, Dutta A. Long non-coding RNAs as emerging regulators of differentiation, development, and disease. Transcription. 2014; 5(4):e944014.
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Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, B?nnemann CG. Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations. J Neuropathol Exp Neurol. 2014 May; 73(5):425-41.
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Davies RR, Priest M, Pizarro C. First use of an intra-pericardial continuous flow ventricular assist device in a child with muscular dystrophy. Cardiol Young. 2015 Jan; 25(1):184-6.
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Miscione MT, Bruno F, Ripamonti C, Nervuti G, Orsini R, Faldini C, Pellegrini M, Cocchi D, Merlini L. Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ScientificWorldJournal. 2013; 2013:152684.