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Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Perrier S, et al. Among authors: grefe a. Neurol Genet. 2020 May 11;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582862 Free PMC article.
Quinidine in the treatment of KCNT1-positive epilepsies.
Mikati MA, Jiang YH, Carboni M, Shashi V, Petrovski S, Spillmann R, Milligan CJ, Li M, Grefe A, McConkie A, Berkovic S, Scheffer I, Mullen S, Bonner M, Petrou S, Goldstein D. Mikati MA, et al. Among authors: grefe a. Ann Neurol. 2015 Dec;78(6):995-9. doi: 10.1002/ana.24520. Epub 2015 Nov 18. Ann Neurol. 2015. PMID: 26369628 Free PMC article.
International Prevalence and Mechanisms of SARS-CoV-2 in Childhood Arterial Ischemic Stroke During the COVID-19 Pandemic.
Beslow LA, Agner SC, Santoro JD, Ram D, Wilson JL, Harrar D, Appavu B, Fraser SM, Rossor T, Torres MD, Kossorotoff M, Zuñiga Zambrano YC, Hernández-Chávez M, Hassanein SMA, Zafeiriou D, Dowling MM, Kopyta I, Stence NV, Bernard TJ, Dlamini N; International Pediatric Stroke Study Group. Beslow LA, et al. Stroke. 2022 Aug;53(8):2497-2503. doi: 10.1161/STROKEAHA.121.038250. Epub 2022 Apr 5. Stroke. 2022. PMID: 35380052 Free PMC article.
11 results