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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2004 2
2005 2
2006 1
2010 1
2013 2
2014 2
2015 4
2016 2
2018 1
2019 3
2020 2
2021 3
2022 2
2023 3
2024 1
2025 2

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31 results

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Page 1
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
do Rosario MC, Bey GR, Nmezi B, Liu F, Oranburg T, Cohen ASA, Coffman KA, Brown MR, Kiselyov K, Waisfisz Q, Flohil MT, Siddiqui S, Rosenfeld JA, Iglesias A, Girisha KM, Wolf NI, Padiath QS, Shukla A. do Rosario MC, et al. Among authors: padiath qs. Brain. 2022 Dec 19;145(12):4202-4209. doi: 10.1093/brain/awac295. Brain. 2022. PMID: 35953447 Free PMC article.
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. Among authors: padiath qs. Brain. 2024 Dec 3;147(12):4033-4042. doi: 10.1093/brain/awae299. Brain. 2024. PMID: 39292993 Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
LMNB1-Related Autosomal Dominant Leukodystrophy.
Raininko R, Gosky M, Padiath QS. Raininko R, et al. Among authors: padiath qs. 2016 Jan 7 [updated 2021 Jul 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2016 Jan 7 [updated 2021 Jul 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 26749591 Free Books & Documents. Review.
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
Nmezi B, Rodriguez Bey G, Oranburg TD, Dudnyk K, Lardo SM, Herdman N, Jacko A, Rubio S, Loeza-Alcocer E, 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 MS, Park Y, Bernard G, Raininko R, Zhou J, Hainer SJ, Padiath QS. Nmezi B, et al. Among authors: padiath qs. Nat Commun. 2025 Feb 5;16(1):1373. doi: 10.1038/s41467-025-56378-9. Nat Commun. 2025. PMID: 39910058 Free PMC article.
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. Among authors: padiath qs. 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.
31 results