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Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-García L, Ortez C, Exposito-Escudero J, Jimenez-Mallebrera C, Jou C, Codina A, Corbera J, Moya O, Saez V, Gonzalez-Quereda L, Gallano P, Colomer J, Cuadras D, Medina J, Yoldi ME, Nascimento A. Bobadilla-Quesada EJ, et al. Among authors: colomer j. Neuromuscul Disord. 2020 Sep;30(9):719-726. doi: 10.1016/j.nmd.2020.07.009. Epub 2020 Jul 24. Neuromuscul Disord. 2020. PMID: 32819792
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: colomer j. PLoS One. 2015 Dec 15;10(12):e0145107. doi: 10.1371/journal.pone.0145107. eCollection 2015. PLoS One. 2015. PMID: 26670220 Free PMC article.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.
Natera-de Benito D, Muchart J, Itzep D, Ortez C, González-Quereda L, Gallano P, Ramirez A, Aparicio J, Domínguez-Carral J, Carrera-García L, Expósito-Escudero J, Pardo Cardozo N, Cuadras D, Codina A, Jou C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento A, San Antonio-Arce V. Natera-de Benito D, et al. Among authors: colomer j. Epilepsia. 2020 May;61(5):971-983. doi: 10.1111/epi.16493. Epub 2020 Apr 8. Epilepsia. 2020. PMID: 32266982
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
Natera-de Benito D, Ortez C, Jou C, Jimenez-Mallebrera C, Codina A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell L, Gallano P, Gonzalez-Quereda L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A. Natera-de Benito D, et al. Among authors: colomer j. Pediatr Neurol. 2021 Feb;115:50-65. doi: 10.1016/j.pediatrneurol.2020.11.002. Epub 2020 Nov 5. Pediatr Neurol. 2021. PMID: 33333461
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Natera-de Benito D, Foley AR, Domínguez-González C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Expósito-Escudero J, Alarcon M, Cuadras D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou C, Jimenez-Mallebrera C, Bönnemann CG, Nascimento A. Natera-de Benito D, et al. Among authors: colomer j. Neurology. 2021 Mar 9;96(10):e1413-e1424. doi: 10.1212/WNL.0000000000011499. Epub 2021 Jan 13. Neurology. 2021. PMID: 33441455 Free PMC article.
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, Carrera-García L, Ortez C, Jou C, Muchart J, Rebollo M, Armstrong J, Colomer J, Garcia-Cazorla À, Hoenicka J, Palau F, Nascimento A. Natera-de Benito D, et al. Among authors: colomer j. Pediatr Neurol. 2021 Jun;119:40-44. doi: 10.1016/j.pediatrneurol.2021.03.005. Epub 2021 Mar 26. Pediatr Neurol. 2021. PMID: 33894639
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.
Carrera-García L, Muchart J, Lazaro JJ, Expósito-Escudero J, Cuadras D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez C, Natera-de Benito D, Nascimento A. Carrera-García L, et al. Among authors: colomer j. Eur J Paediatr Neurol. 2021 Mar;31:92-101. doi: 10.1016/j.ejpn.2021.02.009. Epub 2021 Mar 4. Eur J Paediatr Neurol. 2021. PMID: 33711792
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M, Gallano P. Juan-Mateu J, et al. Among authors: colomer j. Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82. Orphanet J Rare Dis. 2012. PMID: 23092449 Free PMC article.
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou C, Nascimento A, Jiménez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M, Gallano P. Juan-Mateu J, et al. Among authors: colomer j. PLoS One. 2013;8(3):e59916. doi: 10.1371/journal.pone.0059916. Epub 2013 Mar 25. PLoS One. 2013. PMID: 23536893 Free PMC article.
249 results