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Climate change and epilepsy: Time to take action.
Sisodiya SM, Fowler HJ, Lake I, Nanji RO, Gawel K, Esguerra CV, Newton C, Foley A. Sisodiya SM, et al. Among authors: foley a. Epilepsia Open. 2019 Sep 20;4(4):524-536. doi: 10.1002/epi4.12359. eCollection 2019 Dec. Epilepsia Open. 2019. PMID: 31819908 Free PMC article. Review.
Climate change and epilepsy: Insights from clinical and basic science studies.
Gulcebi MI, Bartolini E, Lee O, Lisgaras CP, Onat F, Mifsud J, Striano P, Vezzani A, Hildebrand MS, Jimenez-Jimenez D, Junck L, Lewis-Smith D, Scheffer IE, Thijs RD, Zuberi SM, Blenkinsop S, Fowler HJ, Foley A; Epilepsy Climate Change Consortium; Sisodiya SM. Gulcebi MI, et al. Among authors: foley a. Epilepsy Behav. 2021 Mar;116:107791. doi: 10.1016/j.yebeh.2021.107791. Epub 2021 Feb 10. Epilepsy Behav. 2021. PMID: 33578223 Free PMC article. Review.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Silverstein S, Orbach R, Syeda S, Foley AR, Gorokhova S, Meilleur KG, Leach ME, Uapinyoying P, Chao KR, Donkervoort S, Bönnemann CG. Silverstein S, et al. Among authors: foley ar. medRxiv [Preprint]. 2024 Mar 26:2024.03.25.24304535. doi: 10.1101/2024.03.25.24304535. medRxiv. 2024. PMID: 38585796 Free PMC article. Preprint.
490 results