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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.
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.
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
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
278 results