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Page 1
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: ortez c. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
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.
Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.
Paco S, Casserras T, Rodríguez MA, Jou C, Puigdelloses M, Ortez CI, Diaz-Manera J, Gallardo E, Colomer J, Nascimento A, Kalko SG, Jimenez-Mallebrera C. Paco S, et al. Among authors: ortez ci. PLoS One. 2015 Dec 15;10(12):e0145107. doi: 10.1371/journal.pone.0145107. eCollection 2015. PLoS One. 2015. PMID: 26670220 Free PMC article.
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.
Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento A, Ortez C, Romero N, Palacios L, Jimenez-Mallebrera C, Jou C, Gouveia S, Couce ML. Fernández-Marmiesse A, et al. Among authors: ortez c. Neuromuscul Disord. 2017 Feb;27(2):188-192. doi: 10.1016/j.nmd.2016.11.002. Epub 2016 Nov 11. Neuromuscul Disord. 2017. PMID: 28040389
Neuromuscular Manifestations in Mitochondrial Diseases in Children.
Nascimento A, Ortez C, Jou C, O'Callaghan M, Ramos F, Garcia-Cazorla À. Nascimento A, et al. Among authors: ortez c. Semin Pediatr Neurol. 2016 Nov;23(4):290-305. doi: 10.1016/j.spen.2016.11.004. Epub 2016 Nov 9. Semin Pediatr Neurol. 2016. PMID: 28284391 Review.
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T. Sivera R, et al. Among authors: ortez c. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
92 results