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A SCN4A mutation causing paramyotonia congenita.
Palma C, Prior C, Gómez-González C, Rodríguez-Antolin C, Martínez-Montero P, Pérez de Ayala L, Pascual SI, Molano Mateos J. Palma C, et al. Among authors: prior c. Neuromuscul Disord. 2017 Dec;27(12):1123-1125. doi: 10.1016/j.nmd.2017.09.008. Epub 2017 Sep 25. Neuromuscul Disord. 2017. PMID: 29111379
Fast skeletal myofibers of mdx mouse, model of Duchenne muscular dystrophy, express connexin hemichannels that lead to apoptosis.
Cea LA, Puebla C, Cisterna BA, Escamilla R, Vargas AA, Frank M, Martínez-Montero P, Prior C, Molano J, Esteban-Rodríguez I, Pascual I, Gallano P, Lorenzo G, Pian H, Barrio LC, Willecke K, Sáez JC. Cea LA, et al. Among authors: prior c. Cell Mol Life Sci. 2016 Jul;73(13):2583-99. doi: 10.1007/s00018-016-2132-2. Epub 2016 Jan 23. Cell Mol Life Sci. 2016. PMID: 26803842
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.
Gómez-González C, Esteban-Rodríguez MI, Ruano Y, Vallespín E, Lapunzina P, Martínez P, Pascual SI, Molano J, Prior C. Gómez-González C, et al. Among authors: prior c. Ann Indian Acad Neurol. 2017 Apr-Jun;20(2):164-165. doi: 10.4103/aian.AIAN_432_16. Ann Indian Acad Neurol. 2017. PMID: 28615910 Free PMC article. No abstract available.
A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.
Prior C, Muñoz-Calero M, Gómez-Gonzalez C, Martinez-Montero P, Barrio L, Poo P, Martorell L, Molano J. Prior C, et al. J Neurol Sci. 2019 Feb 15;397:135-137. doi: 10.1016/j.jns.2018.12.031. Epub 2018 Dec 23. J Neurol Sci. 2019. PMID: 30616056 No abstract available.
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
Gómez-González C, Rosas-Alonso R, Rodríguez-Antolín C, García-Guede A, Ibáñez de Caceres I, Sanguino J, Pascual SI, Esteban I, Pozo AD, Mori MÁ, Torres RJ, Prior C. Gómez-González C, et al. Among authors: prior c. Eur J Med Genet. 2021 Apr;64(4):104170. doi: 10.1016/j.ejmg.2021.104170. Epub 2021 Feb 19. Eur J Med Genet. 2021. PMID: 33618039
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Among authors: prior c. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 Free PMC article.
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C. Vieitez I, et al. Among authors: prior c. Neurologia. 2017 Jul-Aug;32(6):377-385. doi: 10.1016/j.nrl.2015.12.009. Epub 2016 Mar 9. Neurologia. 2017. PMID: 26968818 Free article. English, Spanish.
278 results