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

Year Number of Results
2008 2
2009 2
2011 1
2012 1
2013 1
2015 2
2016 1
2018 3
2019 5
2020 12
2021 3
2022 8
2023 6
2024 1

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38 results

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Page 1
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Bermejo-Guerrero L, de Fuenmayor Fernández-de la Hoz CP, González-Quereda L, Segarra-Casas A, Nedkova V, Gallano P, Martín-Jiménez P, Hernández-Laín A, Olivé M, Arteche-López A, Domínguez-González C. Bermejo-Guerrero L, et al. Among authors: gonzalez quereda l. Neuromuscul Disord. 2023 Dec;33(12):983-987. doi: 10.1016/j.nmd.2023.10.016. Epub 2023 Oct 30. Neuromuscul Disord. 2023. PMID: 38016875
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.
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
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022.
Sarkozy A, Quinlivan R, Bourke JP, Ferlini A; ENMC 263rd Workshop Study Group. Sarkozy A, et al. Neuromuscul Disord. 2023 Mar;33(3):274-284. doi: 10.1016/j.nmd.2023.01.003. Epub 2023 Jan 12. Neuromuscul Disord. 2023. PMID: 36804616 No abstract available.
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Rodríguez Cruz PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F, Polavarapu K, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: gonzalez quereda l. Neuromuscul Disord. 2023 Feb;33(2):161-168. doi: 10.1016/j.nmd.2022.12.011. Epub 2022 Dec 22. Neuromuscul Disord. 2023. PMID: 36634413
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.
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.
Alías L, López de Heredia M, Luna S, Clivillé N, González-Quereda L, Gallano P, de Juan J, Pujol A, Diez S, Boronat S, Orús C, Lasa A, Venegas MDP. Alías L, et al. Among authors: gonzalez quereda l. Front Genet. 2022 Oct 18;13:998898. doi: 10.3389/fgene.2022.998898. eCollection 2022. Front Genet. 2022. PMID: 36330437 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.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
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
38 results