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Page 1
Lamin B1 duplications cause autosomal dominant leukodystrophy.
Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH. Padiath QS, et al. Nat Genet. 2006 Oct;38(10):1114-23. doi: 10.1038/ng1872. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951681
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.
Chance in our strands?
Padiath QS, Rao BJ. Padiath QS, et al. J Genet. 2004 Aug;83(2):117-9. doi: 10.1007/BF02729890. J Genet. 2004. PMID: 15536252 Free article. No abstract available.
TUBB4A de novo mutations cause isolated hypomyelination.
Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A. Pizzino A, et al. Neurology. 2014 Sep 2;83(10):898-902. doi: 10.1212/WNL.0000000000000754. Epub 2014 Aug 1. Neurology. 2014. PMID: 25085639 Free PMC article.
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.
Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS. Nmezi B, et al. Among authors: padiath qs. Neurol Genet. 2019 Jan 24;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30842973 Free PMC article.
Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).
Lo Martire V, Alvente S, Bastianini S, Berteotti C, Bombardi C, Calandra-Buonaura G, Capellari S, Cohen G, Cortelli P, Gasparini L, Padiath Q, Valli A, Zoccoli G, Silvani A. Lo Martire V, et al. Exp Neurol. 2018 Mar;301(Pt A):1-12. doi: 10.1016/j.expneurol.2017.12.006. Epub 2017 Dec 17. Exp Neurol. 2018. PMID: 29262292 Free PMC article.
33 results