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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 3
2004 2
2005 2
2006 1
2007 1
2008 3
2009 2
2011 2
2012 4
2013 2
2014 2
2015 5
2016 5
2017 3
2018 1
2019 9
2020 9
2021 9
2022 1
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Search Results

60 results
Results by year
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Page 1
Congenital myopathies.
Sewry CA, Jimenez-Mallebrera C, Muntoni F. Sewry CA, et al. Among authors: jimenez mallebrera c. Curr Opin Neurol. 2008 Oct;21(5):569-75. doi: 10.1097/WCO.0b013e32830f93c7. Curr Opin Neurol. 2008. PMID: 18769251 Review.
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome.
Garrido-Pérez N, Vela-Sebastián A, López-Gallardo E, Emperador S, Iglesias E, Meade P, Jiménez-Mallebrera C, Montoya J, Bayona-Bafaluy MP, Ruiz-Pesini E. Garrido-Pérez N, et al. Among authors: jimenez mallebrera c. Int J Mol Sci. 2020 May 10;21(9):3374. doi: 10.3390/ijms21093374. Int J Mol Sci. 2020. PMID: 32397676 Free PMC article. Review.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Domínguez-González C, et al. Among authors: jimenez mallebrera c. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. Ann Neurol. 2019. PMID: 31125140 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: jimenez mallebrera c. 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.
COST Actions: fostering collaborative research for rare diseases.
Desviat LR, Mallebrera CJ, Vallejo-Illarramendi A, Mayán MD, Nogales-Gadea G, Arechavala-Gomeza V. Desviat LR, et al. Among authors: mallebrera cj. Lancet Neurol. 2019 Nov;18(11):989-991. doi: 10.1016/S1474-4422(19)30366-7. Lancet Neurol. 2019. PMID: 31609208 No abstract available.
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: jimenez mallebrera c. 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: jimenez mallebrera c. Pediatr Neurol. 2021 Feb;115:50-65. doi: 10.1016/j.pediatrneurol.2020.11.002. Epub 2020 Nov 5. Pediatr Neurol. 2021. PMID: 33333461
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency.
de Fuenmayor-Fernández de la Hoz CP, Morís G, Jiménez-Mallebrera C, Badosa C, Hernández-Laín A, Blázquez Encinar A, Martín MÁ, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. Among authors: jimenez mallebrera c. Mol Genet Metab Rep. 2021 Jan 6;26:100701. doi: 10.1016/j.ymgmr.2020.100701. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33457207 Free PMC article.
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: jimenez mallebrera c. Neurology. 2021 Mar 9;96(10):e1413-e1424. doi: 10.1212/WNL.0000000000011499. Epub 2021 Jan 13. Neurology. 2021. PMID: 33441455
60 results