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Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.
Amer-Sarsour F, Falik D, Berdichevsky Y, Kordonsky A, Eid S, Rabinski T, Ishtayeh H, Cohen-Adiv S, Braverman I, Blumen SC, Laviv T, Prag G, Vatine GD, Ashkenazi A. Amer-Sarsour F, et al. Among authors: blumen sc. EMBO J. 2024 Jan;43(2):250-276. doi: 10.1038/s44318-023-00018-9. Epub 2024 Jan 2. EMBO J. 2024. PMID: 38177505 Free PMC article.
Transillumination Assisted Cricopharyngeal Myotomy.
Avior G, Noy R, Blumen SC, Guily JLS, Braverman I. Avior G, et al. Among authors: blumen sc. Indian J Otolaryngol Head Neck Surg. 2022 Oct;74(Suppl 2):2486-2492. doi: 10.1007/s12070-020-02227-8. Epub 2020 Oct 23. Indian J Otolaryngol Head Neck Surg. 2022. PMID: 36452790 Free PMC article.
PABPN1 gene therapy for oculopharyngeal muscular dystrophy.
Malerba A, Klein P, Bachtarzi H, Jarmin SA, Cordova G, Ferry A, Strings V, Espinoza MP, Mamchaoui K, Blumen SC, St Guily JL, Mouly V, Graham M, Butler-Browne G, Suhy DA, Trollet C, Dickson G. Malerba A, et al. Among authors: blumen sc. Nat Commun. 2017 Mar 31;8:14848. doi: 10.1038/ncomms14848. Nat Commun. 2017. PMID: 28361972 Free PMC article.
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Lee JYW, et al. Among authors: blumen sc. Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014. Am J Hum Genet. 2017. PMID: 28157540 Free PMC article.
36 results