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

Year Number of Results
1986 1
1991 1
1993 1
1994 1
1997 1
1998 4
1999 2
2000 5
2001 2
2002 4
2003 5
2004 1
2005 3
2006 3
2007 1
2009 1
2010 3
2011 2
2012 3
2014 3
2015 3
2016 1
2017 3
2018 1
2019 7
2023 0

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PubMed (Bookshelf cited) for id: 374177

61 results

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Page 1
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Yan H, Helman G, Murthy SE, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs A, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap MS, Patapoutian A, Simons C, Burmeister M, Wang J, Wolf NI. Yan H, et al. Am J Hum Genet. 2019 Nov 7;105(5):996-1004. doi: 10.1016/j.ajhg.2019.09.011. Epub 2019 Oct 3. Am J Hum Genet. 2019. PMID: 31587869 Free PMC article.
Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation.
Nobuta H, Yang N, Ng YH, Marro SG, Sabeur K, Chavali M, Stockley JH, Killilea DW, Walter PB, Zhao C, Huie P Jr, Goldman SA, Kriegstein AR, Franklin RJM, Rowitch DH, Wernig M. Nobuta H, et al. Cell Stem Cell. 2019 Oct 3;25(4):531-541.e6. doi: 10.1016/j.stem.2019.09.003. Cell Stem Cell. 2019. PMID: 31585094 Free PMC article.
Diagnosis, prognosis, and treatment of leukodystrophies.
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI. van der Knaap MS, et al. Lancet Neurol. 2019 Oct;18(10):962-972. doi: 10.1016/S1474-4422(19)30143-7. Epub 2019 Jul 12. Lancet Neurol. 2019. PMID: 31307818 Review.
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease.
Stumpf SK, Berghoff SA, Trevisiol A, Spieth L, Düking T, Schneider LV, Schlaphoff L, Dreha-Kulaczewski S, Bley A, Burfeind D, Kusch K, Mitkovski M, Ruhwedel T, Guder P, Röhse H, Denecke J, Gärtner J, Möbius W, Nave KA, Saher G. Stumpf SK, et al. Acta Neuropathol. 2019 Jul;138(1):147-161. doi: 10.1007/s00401-019-01985-2. Epub 2019 Mar 27. Acta Neuropathol. 2019. PMID: 30919030 Free PMC article.
Chemical Screening Identifies Enhancers of Mutant Oligodendrocyte Survival and Unmasks a Distinct Pathological Phase in Pelizaeus-Merzbacher Disease.
Elitt MS, Shick HE, Madhavan M, Allan KC, Clayton BLL, Weng C, Miller TE, Factor DC, Barbar L, Nawash BS, Nevin ZS, Lager AM, Li Y, Jin F, Adams DJ, Tesar PJ. Elitt MS, et al. Stem Cell Reports. 2018 Sep 11;11(3):711-726. doi: 10.1016/j.stemcr.2018.07.015. Epub 2018 Aug 23. Stem Cell Reports. 2018. PMID: 30146490 Free PMC article.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. Miyake N, et al. Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26. Neurogenetics. 2017. PMID: 28842795 Free PMC article.
61 results