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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29.
Acta Neuropathol. 2023.
PMID: 37119330
Free PMC article.
Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma.
Drabarek W, van Riet J, Nguyen JQN, Smit KN, van Poppelen NM, Jansen R, Medico-Salsench E, Vaarwater J, Magielsen FJ, Brands T, Eussen B, Bosch TPPVD, Verdijk RM, Naus NC, Paridaens D, de Klein A, Brosens E, van de Werken HJG, Kilic E, On Behalf Of The Rotterdam Ocular Melanoma Study Group.
Drabarek W, et al. Among authors: medico salsench e.
Cancers (Basel). 2022 Feb 8;14(3):846. doi: 10.3390/cancers14030846.
Cancers (Basel). 2022.
PMID: 35159112
Free PMC article.
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The non-coding genome in genetic brain disorders: new targets for therapy?
Medico-Salsench E, Karkala F, Lanko K, Barakat TS.
Medico-Salsench E, et al.
Essays Biochem. 2021 Oct 27;65(4):671-683. doi: 10.1042/EBC20200121.
Essays Biochem. 2021.
PMID: 34414418
Free PMC article.
Review.
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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M, Abbas Al-Sannaa N, Girgis MY, Silveira TRD, Bauer P, Schroeder A, Fong CT, Begtrup A, Babaei M, Toosi MB, Ashrafzadeh F, Imannezhad S, Doosti M, Ahangari N, Najarzadeh Torbati P, Ghayoor Karimiani E, Murphy D, Cali E, Kaya IH, AlMuhaizea M, Colak D, Cardona-Londoño KJ, Arold ST, Houlden H, Bertoli-Avella A, Kaya N, Barakat TS.
Medico Salsench E, et al.
Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297.
Brain. 2021.
PMID: 34373908
Free PMC article.
No abstract available.
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Spliceosome Mutations in Uveal Melanoma.
Nguyen JQN, Drabarek W, Yavuzyigitoglu S, Medico Salsench E, Verdijk RM, Naus NC, de Klein A, Kiliç E, Brosens E.
Nguyen JQN, et al. Among authors: medico salsench e.
Int J Mol Sci. 2020 Dec 15;21(24):9546. doi: 10.3390/ijms21249546.
Int J Mol Sci. 2020.
PMID: 33333932
Free PMC article.
Review.
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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
AlMuhaizea M, AlMass R, AlHargan A, AlBader A, Medico Salsench E, Howaidi J, Ihinger J, Karachunski P, Begtrup A, Segura Castell M, Bauer P, Bertoli-Avella A, Kaya IH, AlSufayan J, AlQuait L, Chedrawi A, Arold ST, Colak D, Barakat TS, Kaya N.
AlMuhaizea M, et al. Among authors: medico salsench e.
Acta Neuropathol. 2020 Apr;139(4):791-794. doi: 10.1007/s00401-020-02128-8. Epub 2020 Jan 31.
Acta Neuropathol. 2020.
PMID: 32006098
No abstract available.
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