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Page 1
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C, Nascimento A, Codina A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero R, Natera-de Benito D, Ortez CI, Marquez J, Zelaya MV, Gutierrez-Mata A, Badosa C, Carrera-García L, Expósito-Escudero J, Roldán M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C, Artuch R. Jou C, et al. Among authors: codina a. Int J Mol Sci. 2022 Sep 20;23(19):11002. doi: 10.3390/ijms231911002. Int J Mol Sci. 2022. PMID: 36232299 Free PMC article.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R. Jou C, et al. Among authors: codina a. J Clin Med. 2019 Jan 10;8(1):68. doi: 10.3390/jcm8010068. J Clin Med. 2019. PMID: 30634555 Free PMC article.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Among authors: codina a. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
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: codina a. Epilepsia. 2020 May;61(5):971-983. doi: 10.1111/epi.16493. Epub 2020 Apr 8. Epilepsia. 2020. PMID: 32266982
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: codina a. 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
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples.
Paredes-Fuentes AJ, Montero R, Codina A, Jou C, Fernández G, Maynou J, Santos-Ocaña C, Riera J, Navas P, Drobnic F, Artuch R. Paredes-Fuentes AJ, et al. Among authors: codina a. Antioxidants (Basel). 2020 Oct 13;9(10):979. doi: 10.3390/antiox9100979. Antioxidants (Basel). 2020. PMID: 33066002 Free PMC article.
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: codina a. Pediatr Neurol. 2021 Feb;115:50-65. doi: 10.1016/j.pediatrneurol.2020.11.002. Epub 2020 Nov 5. Pediatr Neurol. 2021. PMID: 33333461
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Trifunov S, Paredes-Fuentes AJ, Badosa C, Codina A, Montoya J, Ruiz-Pesini E, Jou C, Garrabou G, Grau-Junyent JM, Yubero D, Montero R, Muchart J, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Català A, Garcia-Cazorla À, Jimenez-Mallebrera C, Artuch R. Trifunov S, et al. Among authors: codina a. Clin Chem. 2021 Aug 5;67(8):1113-1121. doi: 10.1093/clinchem/hvab091. Clin Chem. 2021. PMID: 34352085
Low levels of CIITA and high levels of SOCS1 predict COVID-19 disease severity in children and adults.
Girona-Alarcon M, Argüello G, Esteve-Sole A, Bobillo-Perez S, Burgos-Artizzu XP, Bonet-Carne E, Mensa-Vilaró A, Codina A, Hernández-Garcia M, Jou C, Alsina L, Jordan I. Girona-Alarcon M, et al. Among authors: codina a. iScience. 2022 Jan 21;25(1):103595. doi: 10.1016/j.isci.2021.103595. Epub 2021 Dec 9. iScience. 2022. PMID: 34904133 Free PMC article.
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures.
Casas-Alba D, Oliva C, Salgado MDC, Codina A, Agut T, García-Alix A, Garcia-Puig M, García-Cazorla À, Taglialatela M, Jou C, Artuch R, Fons C. Casas-Alba D, et al. Among authors: codina a. Pediatr Neurol. 2022 Mar;128:16-19. doi: 10.1016/j.pediatrneurol.2021.11.013. Epub 2021 Dec 6. Pediatr Neurol. 2022. PMID: 35032885
218 results