Below are the most recent publications written about "Muscular Diseases" by people in Profiles.
-
Serrano E, Whitaker-Menezes D, Lin Z, Roche M, Martinez Cantarin MP. Uremic Myopathy and Mitochondrial Dysfunction in Kidney Disease. Int J Mol Sci. 2022 Nov 04; 23(21).
-
Cassandrini D, Merlini L, Pilla F, Cenni V, Santi S, Faldini C, Santorelli FM, Sabatelli P. Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein. Neuromuscul Disord. 2021 01; 31(1):44-51.
-
Dalakas MC. Case 22-2019: A 65-Year-Old Woman with Myopathy. N Engl J Med. 2019 10 24; 381(17):1693.
-
Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Sch?ls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 11; 21(11):2521-2531.
-
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.
-
Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. J Dermatol Sci. 2016 Feb; 81(2):134-6.
-
Kuntz AF, Raphael I, Dougherty MP, Abboud JA. Arthroscopic subscapularis repair. J Am Acad Orthop Surg. 2014 Feb; 22(2):80-9.
-
Nam D, Maak TG, Raphael BS, Kepler CK, Cross MB, Warren RF. Rotator cuff tear arthropathy: evaluation, diagnosis, and treatment: AAOS exhibit selection. J Bone Joint Surg Am. 2012 Mar 21; 94(6):e34.
-
Katzman W, Cawthon P, Hicks GE, Vittinghoff E, Shepherd J, Cauley JA, Harris T, Simonsick EM, Strotmeyer E, Womack C, Kado DM. Association of spinal muscle composition and prevalence of hyperkyphosis in healthy community-dwelling older men and women. J Gerontol A Biol Sci Med Sci. 2012 Feb; 67(2):191-5.
-
Daithankar VN, Schaefer SA, Dong M, Bahnson BJ, Thorpe C. Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy . Biochemistry. 2010 Aug 10; 49(31):6737-45.