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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: gallano p. 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
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
González-Pérez P, Gallano P, González-Quereda L, Rivas-Infante E, Teijeira S, Navarro C, Bautista-Lorite J. González-Pérez P, et al. Among authors: gallano p. J Neurol Sci. 2009 Jan 15;276(1-2):95-8. doi: 10.1016/j.jns.2008.09.009. Epub 2008 Oct 19. J Neurol Sci. 2009. PMID: 18930476
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: gallano p. 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: gallano p. PLoS One. 2013;8(3):e59916. doi: 10.1371/journal.pone.0059916. Epub 2013 Mar 25. PLoS One. 2013. PMID: 23536893 Free PMC article.
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.
Díaz-Manera J, Alejaldre A, González L, Olivé M, Gómez-Andrés D, Muelas N, Vílchez JJ, Llauger J, Carbonell P, Márquez-Infante C, Fernández-Torrón R, Poza JJ, López de Munáin A, González-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-García R, Gallardo E, Illa I. Díaz-Manera J, et al. Among authors: gallano p. Neuromuscul Disord. 2016 Jan;26(1):33-40. doi: 10.1016/j.nmd.2015.10.001. Epub 2015 Oct 22. Neuromuscul Disord. 2016. PMID: 26573435
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J. Alonso-Jimenez A, et al. Among authors: gallano p. J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30530568
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C. Milev MP, et al. Among authors: gallano p. Sci Rep. 2019 Oct 1;9(1):14036. doi: 10.1038/s41598-019-50415-6. Sci Rep. 2019. PMID: 31575891 Free PMC article.
83 results