Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2021 | 3 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Spliceosome Mutations in Uveal Melanoma.
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.
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.
Item in Clipboard
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS.
Deng R, et al. Among authors: medico salsench e.
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.
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.
Yousefi S, Deng R, Lanko K, Salsench EM, Nikoncuk A, van der Linde HC, Perenthaler E, van Ham TJ, Mulugeta E, Barakat TS.
Yousefi S, et al. Among authors: salsench em.
Genome Med. 2021 Oct 19;13(1):162. doi: 10.1186/s13073-021-00980-1.
Genome Med. 2021.
PMID: 34663447
Free PMC article.
Item in Clipboard
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.
Item in Clipboard
Cite
Cite