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

Year Number of Results
2006 1
2007 1
2008 2
2009 3
2010 1
2011 4
2012 2
2013 1
2015 2
2016 2
2017 2
2018 3
2019 4
2020 10
2021 3
2022 6
2023 5
2024 1

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39 results

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Page 1
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Gonzalez-Quereda L, et al. Genes (Basel). 2020 May 11;11(5):539. doi: 10.3390/genes11050539. Genes (Basel). 2020. PMID: 32403337 Free PMC article.
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Poyatos-García J, Martí P, Liquori A, Muelas N, Pitarch I, Martinez-Dolz L, Rodríguez B, Gonzalez-Quereda L, Damiá M, Aller E, Selva-Gimenez M, Vilchez R, Diaz-Manera J, Alonso-Pérez J, Barcena JE, Jauregui A, Gámez J, Aladrén JA, Fernández A, Montolio M, Azorin I, Hervas D, Casasús A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Poyatos-García J, et al. Among authors: gonzalez quereda l. Ann Neurol. 2022 Nov;92(5):793-806. doi: 10.1002/ana.26461. Epub 2022 Sep 7. Ann Neurol. 2022. PMID: 35897138 Free PMC article.
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez C, Natera-de Benito D, Nascimento A, Codina A, Rodriguez MJ, Gallano P, Gonzalez-Quereda L. Segarra-Casas A, et al. Among authors: gonzalez quereda l. J Med Genet. 2023 Jun;60(6):615-619. doi: 10.1136/jmg-2022-108828. Epub 2022 Dec 19. J Med Genet. 2023. PMID: 36535754 Free PMC article.
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Segarra-Casas A, Collet R, Gonzalez-Quereda L, Vesperinas A, Caballero-Ávila M, Carbayo A, Díaz-Manera J, Rodriguez MJ, Gallardo E, Gallano P, Olivé M. Segarra-Casas A, et al. Among authors: gonzalez quereda l. Neuromuscul Disord. 2023 Apr;33(4):319-323. doi: 10.1016/j.nmd.2023.02.006. Epub 2023 Feb 15. Neuromuscul Disord. 2023. PMID: 36893608
Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS).
Palones E, Curto E, Plaza V, Gonzalez-Quereda L, Segarra-Casas A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo-Lessmann A. Palones E, et al. Among authors: gonzalez quereda l. J Neurol. 2024 Mar;271(3):1204-1212. doi: 10.1007/s00415-023-12001-9. Epub 2023 Nov 2. J Neurol. 2024. PMID: 37917234 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: gonzalez quereda l. Epilepsia. 2020 May;61(5):971-983. doi: 10.1111/epi.16493. Epub 2020 Apr 8. Epilepsia. 2020. PMID: 32266982
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: gonzalez quereda l. Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. Brain. 2022. PMID: 34515763 Free PMC article.
Molecular characterization of congenital myasthenic syndromes in Spain.
Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A. Natera-de Benito D, et al. Among authors: gonzalez quereda l. Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18. Neuromuscul Disord. 2017. PMID: 29054425
Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.
Alonso-Pérez J, de León Hernández JC, Pérez-Pérez H, Mendoza-Grimón MD, Gutierrez-Martinez AJ, Hadjigeorgiou I, Montón-Álvarez F, González-Quereda L, Alonso-Jimenez A, Suárez-Calvet X, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: gonzalez quereda l. Eur J Neurol. 2022 May;29(5):1488-1495. doi: 10.1111/ene.15252. Epub 2022 Feb 3. Eur J Neurol. 2022. PMID: 35112761
39 results