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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 1 |
2015 | 3 |
2024 | 0 |
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4 results
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Page 1
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623.
Nat Commun. 2015.
PMID: 26151409
Free PMC article.
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno GÁ, Tran LT, Benko W, van der Knaap MS, van Spaendonk RM, Wolf NI, Bernard G.
Gutierrez M, et al.
Orphanet J Rare Dis. 2015 Jun 5;10:69. doi: 10.1186/s13023-015-0279-9.
Orphanet J Rare Dis. 2015.
PMID: 26045207
Free PMC article.
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POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI.
Cayami FK, et al.
Neuropediatrics. 2015 Jun;46(3):221-8. doi: 10.1055/s-0035-1550148. Epub 2015 May 8.
Neuropediatrics. 2015.
PMID: 26011300
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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.
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