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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, Manzini MC. Flannery KP, et al. Among authors: bhise v. medRxiv [Preprint]. 2024 May 15:2024.05.15.24306843. doi: 10.1101/2024.05.15.24306843. medRxiv. 2024. PMID: 38798571 Free PMC article. Preprint.
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. Among authors: bhise v. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Silent findings: Examination of asymptomatic demyelination in a pediatric US cohort.
Bhise V, Waltz M, Casper TC, Aaen G, Benson L, Chitnis T, Gorman M, Goyal MS, Wheeler Y, Lotze T, Mar S, Rensel M, Abrams A, Rodriguez M, Rose J, Schreiner T, Shukla N, Waubant E, Weinstock-Guttman B, Ness J, Krupp L, Mendelt-Tillema J; U.S. Network of Pediatric Multiple Sclerosis Centers. Bhise V, et al. Mult Scler Relat Disord. 2023 Mar;71:104573. doi: 10.1016/j.msard.2023.104573. Epub 2023 Feb 18. Mult Scler Relat Disord. 2023. PMID: 36871372
37 results