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Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
Werren EA, Rodriguez Bey G, Majethia P, Kaur P, Patil SJ, Kekatpure MV, Afenjar A, Qebibo L, Burglen L, Tomoum H, Demurger F, Duborg C, Siddiqui S, Tsan YC, Abdullah U, Ali Z, Saadi SM, Baig SM, Houlden H, Maroofian R, Padiath QS, Bielas SL, Shukla A. Werren EA, et al. Brain. 2024 Dec 3;147(12):4033-4042. doi: 10.1093/brain/awae299. Brain. 2024. PMID: 39292993
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.
Neri I, Ramazzotti G, Mongiorgi S, Rusciano I, Bugiani M, Conti L, Cousin M, Giorgio E, Padiath QS, Vaula G, Cortelli P, Manzoli L, Ratti S. Neri I, et al. Mol Neurobiol. 2023 Nov;60(11):6362-6372. doi: 10.1007/s12035-023-03461-1. Epub 2023 Jul 14. Mol Neurobiol. 2023. PMID: 37450245 Free PMC article. Review.
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
Nmezi B, Bey GR, Oranburg TD, Dudnyk K, Lardo SM, Herdman N, Jacko A, Rubio S, Alcocer EL, Kofler J, Kim D, Rankin J, Kivuva E, Gutowski N, Schon K, van den Ameele J, Chinnery PF, Sousa SB, Palavra F, Toro C, Pinto E Vairo F, Saute J, Pan L, Alturkustani M, Hammond R, Gros-Louis F, Gold M, Park Y, Bernard G, Raininko R, Zhou J, Hainer SJ, Padiath QS. Nmezi B, et al. bioRxiv [Preprint]. 2023 Aug 9:2023.08.03.551473. doi: 10.1101/2023.08.03.551473. bioRxiv. 2023. PMID: 37609196 Free PMC article. Preprint.