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Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG. Nowak KJ, et al. Among authors: navarro c. Ann Neurol. 2007 Feb;61(2):175-84. doi: 10.1002/ana.21035. Ann Neurol. 2007. PMID: 17187373
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG. Wallefeld W, et al. Among authors: navarro c. Neuromuscul Disord. 2006 Oct;16(9-10):541-7. doi: 10.1016/j.nmd.2006.07.018. Epub 2006 Sep 1. Neuromuscul Disord. 2006. PMID: 16945536
Approach to the diagnosis of congenital myopathies.
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. North KN, et al. Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18. Neuromuscul Disord. 2014. PMID: 24456932 Free PMC article.
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C. Grohmann K, et al. Among authors: navarro c. Ann Neurol. 2003 Dec;54(6):719-24. doi: 10.1002/ana.10755. Ann Neurol. 2003. PMID: 14681881
Using patient-generated health data more efficient and effectively to facilitate the implementation of value-based healthcare in the EU - Innovation report.
Folkvord F, Carlson JI, Ottaviano M, Carvajal D, Gonzalez LH, van de Schoot R, Turk E, Piera-Jiménez J, Pontes C, Ramiro-Pareta M, Carot-Sans G, Podovšovnik E, Levašič V, Scheckenbach K, Wagenmann M, Szpisjak A, Eliasen B, Wakim JM, Ernst M, Prinzellner Y, Bol N, He L, Krahmer E, Navarro C, Juan L, Guerri D, Pinna L, Genovese C, Benetti L, Macagnano C, Chiarugi F, Peeters J, Pedullà L, Brichetto G, Zaratin P, Peschke SG, Peschke L, Fico G. Folkvord F, et al. Among authors: navarro c. Comput Struct Biotechnol J. 2024 Oct 18;24:672-678. doi: 10.1016/j.csbj.2024.10.026. eCollection 2024 Dec. Comput Struct Biotechnol J. 2024. PMID: 39534362 Free PMC article.
1,256 results