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Page 1
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
Baviera-Muñoz R, Carretero-Vilarroig L, Pedro-Ibor A, Jaijo T, Del Valle-Carranza A, Martínez-Torres I, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Among authors: jaijo t. Mov Disord. 2024 Sep;39(9):1641-1644. doi: 10.1002/mds.29910. Epub 2024 Jul 4. Mov Disord. 2024. PMID: 38962894
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Muelas N, Sivera R, Sopena-Novales P, Martínez-Sanchis B, Sastre-Bataller I, Campins-Romeu M, Martínez-Torres I, García-Verdugo JM, Millán JM, Jaijo T, Aller E, Bataller L. Baviera-Muñoz R, et al. Among authors: jaijo t. Mov Disord Clin Pract. 2023 May 5;10(6):992-997. doi: 10.1002/mdc3.13740. eCollection 2023 Jun. Mov Disord Clin Pract. 2023. PMID: 37332636 Free PMC article.
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B, Aller E, Rodríguez Muñoz A, Jaijo T, García García G, Millán JM. García Bohórquez B, et al. Among authors: jaijo t. Front Cell Dev Biol. 2021 Jul 13;9:645600. doi: 10.3389/fcell.2021.645600. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34327195 Free PMC article.
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Baviera-Muñoz R, Campins-Romeu M, Carretero-Vilarroig L, Sastre-Bataller I, Martínez-Torres I, Vázquez-Costa JF, Muelas N, Sevilla T, Vílchez JJ, Aller E, Jaijo T, Bataller L, Espinós C. Baviera-Muñoz R, et al. Among authors: jaijo t. J Neurol Sci. 2021 Oct 15;429:118062. doi: 10.1016/j.jns.2021.118062. Epub 2021 Aug 30. J Neurol Sci. 2021. PMID: 34500365
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, Morata-Martínez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martínez-Torres I, Pérez-García J, Sivera R, Sevilla T, Vilchez JJ, Jaijo T, Espinós C, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Among authors: jaijo t. Neurol Genet. 2022 Nov 14;8(6):e200038. doi: 10.1212/NXG.0000000000200038. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36530930 Free PMC article.
Genetic Screening of the Usher Syndrome in Cuba.
Santana EE, Fuster-García C, Aller E, Jaijo T, García-Bohórquez B, García-García G, Millán JM, Lantigua A. Santana EE, et al. Among authors: jaijo t. Front Genet. 2019 May 22;10:501. doi: 10.3389/fgene.2019.00501. eCollection 2019. Front Genet. 2019. PMID: 31231422 Free PMC article.
Expanding the Genetic Landscape of Usher-Like Phenotypes.
Fuster-García C, García-García G, Jaijo T, Blanco-Kelly F, Tian L, Hakonarson H, Ayuso C, Aller E, Millán JM. Fuster-García C, et al. Among authors: jaijo t. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4701-4710. doi: 10.1167/iovs.19-27470. Invest Ophthalmol Vis Sci. 2019. PMID: 31725169
56 results