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Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M, Rojas-García R, Argente-Escrig H, Vázquez-Costa JF, Muelas N, Vílchez JJ, Sivera R, Millet E, Barreiro M, Díaz-Manera J, Turon-Sans J, Cortés-Vicente E, Querol L, Ramírez-Jiménez L, Martínez-Rubio D, Sánchez-Monteagudo A, Espinós C, Sevilla T, Lupo V. Frasquet M, et al. Eur J Neurol. 2021 Apr;28(4):1334-1343. doi: 10.1111/ene.14700. Epub 2021 Jan 10. Eur J Neurol. 2021. PMID: 33369814
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
Dols-Icardo O, Nebot I, Gorostidi A, Ortega-Cubero S, Hernández I, Rojas-García R, García-Redondo A, Povedano M, Lladó A, Álvarez V, Sánchez-Juan P, Pardo J, Jericó I, Vázquez-Costa J, Sevilla T, Cardona F, Indakoechea B, Moreno F, Fernández-Torrón R, Muñoz-Llahuna L, Moreno-Grau S, Rosende-Roca M, Vela Á, Muñoz-Blanco JL, Combarros O, Coto E, Alcolea D, Fortea J, Lleó A, Sánchez-Valle R, Esteban-Pérez J, Ruiz A, Pastor P, López De Munain A, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO). Dols-Icardo O, et al. Brain. 2015 Dec;138(Pt 12):e400. doi: 10.1093/brain/awv175. Epub 2015 Jul 7. Brain. 2015. PMID: 26152333 Free article. No abstract available.
Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia.
Vázquez-Costa JF, Beltrán E, Sopena P, Sabater A, Cardona F, Vilchez JJ, Pérez-Tur J, Sevilla T. Vázquez-Costa JF, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):297-300. doi: 10.3109/21678421.2015.1112407. Epub 2015 Nov 27. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 26613114 No abstract available.
The role of DNAJB2 in amyotrophic lateral sclerosis.
Frasquet M, Vázquez-Costa JF, Sevilla T. Frasquet M, et al. Brain. 2016 Oct;139(Pt 10):e57. doi: 10.1093/brain/aww154. Epub 2016 Jun 21. Brain. 2016. PMID: 27329769 No abstract available.
70 results