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Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H. Mihaylova V, et al. Among authors: vilchez jj. Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7. Brain. 2008. PMID: 18180250
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Müller JS, et al. Among authors: vilchez jj. Brain. 2007 Jun;130(Pt 6):1497-506. doi: 10.1093/brain/awm068. Epub 2007 Apr 17. Brain. 2007. PMID: 17439981
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Senderek J, et al. Among authors: vilchez jj. Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008. Am J Hum Genet. 2011. PMID: 21310273 Free PMC article.
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H. Chaouch A, et al. Among authors: vilchez jj. J Neurol. 2012 Mar;259(3):474-81. doi: 10.1007/s00415-011-6204-9. Epub 2011 Aug 7. J Neurol. 2012. PMID: 21822932
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. Among authors: vilchez jj. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Bushby K, et al. Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332. Muscle Nerve. 2014. PMID: 25042182 Free PMC article. Clinical Trial.
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
Panadés-de Oliveira L, Bermejo-Guerrero L, de Fuenmayor-Fernández de la Hoz CP, Cantero Montenegro D, Hernández Lain A, Martí P, Muelas N, Vilchez JJ, Domínguez-González C. Panadés-de Oliveira L, et al. Among authors: vilchez jj. J Neurol. 2020 Sep;267(9):2546-2555. doi: 10.1007/s00415-020-09872-7. Epub 2020 May 4. J Neurol. 2020. PMID: 32367299
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.
Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F; PTC124-GD-007-DMD Study Group; ACT DMD Study Group; Clinical Evaluator Training Groups. Campbell C, et al. Among authors: vilchez jj. J Comp Eff Res. 2020 Oct;9(14):973-984. doi: 10.2217/cer-2020-0095. Epub 2020 Aug 27. J Comp Eff Res. 2020. PMID: 32851872 Free article.
157 results