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

Year Number of Results
1983 1
1984 1
1988 1
1994 1
1997 2
2000 2
2006 3
2008 2
2009 2
2010 2
2011 4
2012 6
2013 6
2014 3
2015 6
2016 1
2017 3
2018 2
2019 3
2020 2
2021 1
2024 0

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PubMed for Bookshelf ID: 4188766

45 results

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Page 1
Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes.
Ratti S, Rusciano I, Mongiorgi S, Owusu Obeng E, Cappellini A, Teti G, Falconi M, Talozzi L, Capellari S, Bartoletti-Stella A, Guaraldi P, Cortelli P, Suh PG, Cocco L, Manzoli L, Ramazzotti G. Ratti S, et al. Cell Mol Life Sci. 2021 Mar;78(6):2781-2795. doi: 10.1007/s00018-020-03661-1. Epub 2020 Oct 9. Cell Mol Life Sci. 2021. PMID: 33034697 Free PMC article.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R, Van Esch H. Cristofoli F, et al. Am J Hum Genet. 2020 Oct 1;107(4):753-762. doi: 10.1016/j.ajhg.2020.08.015. Epub 2020 Sep 9. Am J Hum Genet. 2020. PMID: 32910914 Free PMC article.
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.
Cousyn L, Law-Ye B, Pyatigorskaya N, Debs R, Froissart R, Piraud M, Federico A, Salvatore S, Cerase A, Macário MC, Durães J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, Laule C, Nakamagoe K, Raininko R, Schols L, Sirrs SM, Viader F, Jastrzębski K, Leclercq D, Nadjar Y. Cousyn L, et al. Neurology. 2019 Aug 13;93(7):e647-e652. doi: 10.1212/WNL.0000000000007943. Epub 2019 Jul 23. Neurology. 2019. PMID: 31337714
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. Neurol Genet. 2019 Jan 24;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30842973 Free PMC article.
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy.
Mezaki N, Miura T, Ogaki K, Eriguchi M, Mizuno Y, Komatsu K, Yamazaki H, Suetsugi N, Kawajiri S, Yamasaki R, Ishiguro T, Konno T, Nozaki H, Kasuga K, Okuma Y, Kira JI, Hara H, Onodera O, Ikeuchi T. Mezaki N, et al. Neurol Genet. 2018 Dec 7;4(6):e292. doi: 10.1212/NXG.0000000000000292. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30697589 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.
Autosomal dominant leukodystrophy presenting as Alzheimer's-type dementia.
Sandoval-Rodríguez V, Cansino-Torres MA, Sáenz-Farret M, Castañeda-Cisneros G, Moreno G, Zúñiga-Ramírez C. Sandoval-Rodríguez V, et al. Mult Scler Relat Disord. 2017 Oct;17:230-233. doi: 10.1016/j.msard.2017.08.014. Epub 2017 Aug 25. Mult Scler Relat Disord. 2017. PMID: 29055464
Timing, rates and spectra of human germline mutation.
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.
45 results