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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: renaud dl. Neurol Genet. 2020 May 11;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582862 Free PMC article.
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A; Global Leukodystrophy Initiative (GLIA) Consortium. Adang LA, et al. Among authors: renaud dl. Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20. Mol Genet Metab. 2017. PMID: 28863857 Free PMC article.
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC. Blackburn PR, et al. Among authors: renaud dl. Ann Clin Transl Neurol. 2020 Jun;7(6):1013-1028. doi: 10.1002/acn3.51074. Epub 2020 Jun 9. Ann Clin Transl Neurol. 2020. PMID: 32519519 Free PMC article.
Neuronal voltage-gated potassium channel complex autoimmunity in children.
Dhamija R, Renaud DL, Pittock SJ, McKeon A, Lachance DH, Nickels KC, Wirrell EC, Kuntz NL, King MD, Lennon VA. Dhamija R, et al. Among authors: renaud dl. Pediatr Neurol. 2011 Apr;44(4):275-81. doi: 10.1016/j.pediatrneurol.2010.10.015. Pediatr Neurol. 2011. PMID: 21397169
Childhood onset of stiff-man syndrome.
Clardy SL, Lennon VA, Dalmau J, Pittock SJ, Jones HR Jr, Renaud DL, Harper CM Jr, Matsumoto JY, McKeon A. Clardy SL, et al. Among authors: renaud dl. JAMA Neurol. 2013 Dec;70(12):1531-6. doi: 10.1001/jamaneurol.2013.4442. JAMA Neurol. 2013. PMID: 24100349 Free PMC article. Review.
178 results