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Page 1
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study; Kini U, Philippe C. Piard J, et al. Among authors: arsene ot. Genet Med. 2019 Jun;21(6):1308-1318. doi: 10.1038/s41436-018-0339-3. Epub 2018 Oct 25. Genet Med. 2019. PMID: 30356099 Free PMC article. Review.
EEG in fitness to drive evaluations in people with epilepsy - Considerable variations across Europe.
Markhus R, Henning O, Molteberg E, Hećimović H, Ujvari A, Hirsch E, Rheims S, Surges R, Malmgren K, Rüegg S, Gil-Nagel A, Roivainen R, Picard F, Steinhoff B, Marusic P, Mostacci B, Kimiskidis VK, Mindruta I, Jagella C, Mameniškienė R, Schulze-Bonhage A, Rosenow F, Kelemen A, Fabo D, Walker MC, Seeck M, Krämer G, Arsene OT, Krestel H, Lossius M. Markhus R, et al. Among authors: arsene ot. Seizure. 2020 Jul;79:56-60. doi: 10.1016/j.seizure.2020.04.013. Epub 2020 Apr 30. Seizure. 2020. PMID: 32416569 Free article.
A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis.
Häusler M, Aksoy A, Alber M, Altunbasak S, Angay A, Arsene OT, Craiu D, Hartmann H, Hiz-Kurul S, Ichiyama T, Iliescu C, Jocic-Jakubi B, Korinthenberg R, Köse G, Lukban MB, Ozkan M, Patcheva I, Teichler J, Vintan M, Yaramis A, Yarar C, Yis U, Yuksel D, Anlar B. Häusler M, et al. Among authors: arsene ot. Neuropediatrics. 2015 Dec;46(6):377-84. doi: 10.1055/s-0035-1564618. Epub 2015 Oct 19. Neuropediatrics. 2015. PMID: 26479761
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study; Kini U, Philippe C. Piard J, et al. Among authors: arsene ot. Genet Med. 2019 Jul;21(7):1667-1671. doi: 10.1038/s41436-019-0460-y. Genet Med. 2019. PMID: 30783266 Free PMC article.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium. Suls A, et al. Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207121 Free PMC article.