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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: rollo bn. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
New era of personalised epilepsy management.
Chen Z, Rollo B, Antonic-Baker A, Anderson A, Ma Y, O'Brien TJ, Ge Z, Wang X, Kwan P. Chen Z, et al. BMJ. 2020 Oct 9;371:m3658. doi: 10.1136/bmj.m3658. BMJ. 2020. PMID: 33037001 Free PMC article.
Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia-Reperfusion Injury.
Redd MA, Scheuer SE, Saez NJ, Yoshikawa Y, Chiu HS, Gao L, Hicks M, Villanueva JE, Joshi Y, Chow CY, Cuellar-Partida G, Peart JN, See Hoe LE, Chen X, Sun Y, Suen JY, Hatch RJ, Rollo B, Xia D, Alzubaidi MAH, Maljevic S, Quaife-Ryan GA, Hudson JE, Porrello ER, White MY, Cordwell SJ, Fraser JF, Petrou S, Reichelt ME, Thomas WG, King GF, Macdonald PS, Palpant NJ. Redd MA, et al. Circulation. 2021 Sep 21;144(12):947-960. doi: 10.1161/CIRCULATIONAHA.121.054360. Epub 2021 Jul 15. Circulation. 2021. PMID: 34264749 Free article.
Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.
Li M, Jancovski N, Jafar-Nejad P, Burbano LE, Rollo B, Richards K, Drew L, Sedo A, Heighway J, Pachernegg S, Soriano A, Jia L, Blackburn T, Roberts B, Nemiroff A, Dalby K, Maljevic S, Reid CA, Rigo F, Petrou S. Li M, et al. J Clin Invest. 2021 Dec 1;131(23):e152079. doi: 10.1172/JCI152079. J Clin Invest. 2021. PMID: 34850743 Free PMC article.
21 results