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2017 2
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2023 3
2024 1

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Page 1
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, García-Redondo A, Rojas-Garcia R, Vázquez Costa JF, Fernandez Santiago R, Bandres-Ciga S, Gómez-Garre P, Periñán MT, Mir P, Pérez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hernández D, Galán-Dávila L, Infante Ceberio J, Pastor P, Paradas C, Dols-Icardo O, Traynor BJ, Feldman EL, Goutman SA; Spanish Neurological Consortium. Dou J, et al. Among authors: borrego hernandez d. Neurol Genet. 2023 May 31;9(4):e200079. doi: 10.1212/NXG.0000000000200079. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37293291 Free PMC article.
TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex.
Rayner SL, Yang S, Farrawell NE, Jagaraj CJ, Cheng F, Davidson JM, Luu L, Redondo AG, Rábano A, Borrego-Hernández D, Atkin JD, Morsch M, Blair IP, Yerbury JJ, Chung R, Lee A. Rayner SL, et al. Among authors: borrego hernandez d. Neurobiol Dis. 2022 Jun 1;167:105673. doi: 10.1016/j.nbd.2022.105673. Epub 2022 Feb 26. Neurobiol Dis. 2022. PMID: 35231559 Free article.
TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.
González-Sánchez M, Puertas-Martín V, Esteban-Pérez J, García-Redondo A, Borrego-Hernández D, Méndez-Guerrero A, Llamas-Velasco S, Herrero-San Martín A, Cordero-Vázquez P, Herrero-Manso MC, Pérez-Martínez DA, Villarejo-Galende A. González-Sánchez M, et al. Among authors: borrego hernandez d. Neurocase. 2018 Oct-Dec;24(5-6):301-305. doi: 10.1080/13554794.2019.1581225. Epub 2019 Feb 16. Neurocase. 2018. PMID: 30773994 Review.
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
Llamas-Velasco S, Arteche-López A, Méndez-Guerrero A, Puertas Martín V, Quesada Espinosa JF, Lezana Rosales JM, González-Sánchez M, Blanco-Palmero VA, Palma Milla C, Herrero-San Martín A, Borrego-Hernández D, García-Redondo A, Pérez-Martínez DA, Villarejo-Galende A. Llamas-Velasco S, et al. Among authors: borrego hernandez d. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):552-560. doi: 10.1080/21678421.2021.1927101. Epub 2021 May 19. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 34009082 Review.
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.
Gómez-Tortosa E, Van der Zee J, Ruggiero M, Gijselinck I, Esteban-Pérez J, García-Redondo A, Borrego-Hernández D, Navarro E, Sainz MJ, Pérez-Pérez J, Cruts M, Van Broeckhoven C, Guerrero-López R; EU EOD Consortium. Gómez-Tortosa E, et al. Among authors: borrego hernandez d. J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):996-997. doi: 10.1136/jnnp-2016-315250. Epub 2017 Apr 1. J Neurol Neurosurg Psychiatry. 2017. PMID: 28365590 No abstract available.
Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, García-Redondo A, Rojas-Garcia R, Vázquez Costa JF, Santiago RF, Bandres-Ciga S, Gómez-Garre P, Periñán MT, Mir P, Pérez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hernández D, Galán-Dávila L, Ceberio JI, Pastor P, Paradas C, Dols-Icardo O; Spanish Neurological Consortium; Traynor BJ, Feldman EL, Goutman SA. Dou J, et al. Among authors: borrego hernandez d. Neurol Genet. 2023 Jul 25;9(5):e200095. doi: 10.1212/NXG.0000000000200095. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37521204 Free PMC article.
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Vázquez-Costa JF, Borrego-Hernández D, Paradas C, Gómez-Caravaca MT, Rojas-Garcia R, Varona L, Povedano M, García-Sobrino T, Jericó Pascual I, Gutiérrez A, Riancho J, Turon-Sans J, Assialioui A, Pérez-Tur J, Sevilla T, Esteban Pérez J, García-Redondo A; ALSGESCO. Vázquez-Costa JF, et al. Among authors: borrego hernandez d. Eur J Neurol. 2022 Dec 9. doi: 10.1111/ene.15661. Online ahead of print. Eur J Neurol. 2022. PMID: 36484631
12 results