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Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG. Schessl J, et al. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. J Clin Invest. 2008. PMID: 18274675 Free PMC article.
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG. Schessl J, et al. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29. Brain. 2009. PMID: 19181672 Free PMC article.
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG. Zukosky K, et al. Among authors: schessl j. JAMA Neurol. 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37. JAMA Neurol. 2015. PMID: 25938801 Free PMC article.
Role of GluR1 in activity-dependent motor system development.
Zhang L, Schessl J, Werner M, Bonnemann C, Xiong G, Mojsilovic-Petrovic J, Zhou W, Cohen A, Seeburg P, Misawa H, Jayaram A, Personius K, Hollmann M, Sprengel R, Kalb R. Zhang L, et al. Among authors: schessl j. J Neurosci. 2008 Oct 1;28(40):9953-68. doi: 10.1523/JNEUROSCI.0880-08.2008. J Neurosci. 2008. PMID: 18829953 Free PMC article.
43 results