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Page 1
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L, Li X, Moutton S, Schrier Vergano SA, Cogné B, Saint-Martin A, Hurst ACE, Hu Y, Bodamer O, Thevenon J, Hung CY, Isidor B, Gerard B, Rega A, Nambot S, Lehalle D, Duffourd Y, Thauvin-Robinet C, Faivre L, Bézieau S, Dure LS, Helbling DC, Bick D, Xu C, Chen Q, Mancini GMS, Vitobello A, Wang QK. Liang L, et al. Among authors: dure ls. Hum Mol Genet. 2019 Sep 1;28(17):2937-2951. doi: 10.1093/hmg/ddz117. Hum Mol Genet. 2019. PMID: 31152168 Free PMC article.
Spinal Cord Diffuse Midline Glioma in a 4-Year-Old Boy.
Kumar A, Rashid S, Singh S, Li R, Dure LS. Kumar A, et al. Among authors: dure ls. Child Neurol Open. 2019 Apr 28;6:2329048X19842451. doi: 10.1177/2329048X19842451. eCollection 2019. Child Neurol Open. 2019. PMID: 31065566 Free PMC article.
Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study.
Szaflarski JP, Bebin EM, Cutter G, DeWolfe J, Dure LS, Gaston TE, Kankirawatana P, Liu Y, Singh R, Standaert DG, Thomas AE, Ver Hoef LW; UAB CBD Program. Szaflarski JP, et al. Among authors: dure ls. Epilepsy Behav. 2018 Oct;87:131-136. doi: 10.1016/j.yebeh.2018.07.020. Epub 2018 Aug 9. Epilepsy Behav. 2018. PMID: 30100226 Free article. Clinical Trial.
A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease.
McGarry A, McDermott M, Kieburtz K, de Blieck EA, Beal F, Marder K, Ross C, Shoulson I, Gilbert P, Mallonee WM, Guttman M, Wojcieszek J, Kumar R, LeDoux MS, Jenkins M, Rosas HD, Nance M, Biglan K, Como P, Dubinsky RM, Shannon KM, O'Suilleabhain P, Chou K, Walker F, Martin W, Wheelock VL, McCusker E, Jankovic J, Singer C, Sanchez-Ramos J, Scott B, Suchowersky O, Factor SA, Higgins DS Jr, Molho E, Revilla F, Caviness JN, Friedman JH, Perlmutter JS, Feigin A, Anderson K, Rodriguez R, McFarland NR, Margolis RL, Farbman ES, Raymond LA, Suski V, Kostyk S, Colcher A, Seeberger L, Epping E, Esmail S, Diaz N, Fung WL, Diamond A, Frank S, Hanna P, Hermanowicz N, Dure LS, Cudkowicz M; Huntington Study Group 2CARE Investigators and Coordinators. McGarry A, et al. Among authors: dure ls. Neurology. 2017 Jan 10;88(2):152-159. doi: 10.1212/WNL.0000000000003478. Epub 2016 Dec 2. Neurology. 2017. PMID: 27913695 Free PMC article. Clinical Trial.
Paroxysmal hypnogenic dyskinesia.
Almeida L, Dure LS. Almeida L, et al. Among authors: dure ls. Neurology. 2014 May 27;82(21):1935. doi: 10.1212/WNL.0000000000000451. Neurology. 2014. PMID: 24862895 No abstract available.
UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.
Fahed AC, McDonough B, Gouvion CM, Newell KL, Dure LS, Bebin M, Bick AG, Seidman JG, Harter DH, Seidman CE. Fahed AC, et al. Among authors: dure ls. Ann Neurol. 2014 May;75(5):793-798. doi: 10.1002/ana.24164. Epub 2014 May 9. Ann Neurol. 2014. PMID: 24771548 Free PMC article.
79 results