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Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium; Vanderver A, Bernard G. Perrier S, et al. Among authors: webb n. Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21. Clin Genet. 2018. PMID: 28857146
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. Sasarman F, et al. Among authors: webb n. Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652405 Free PMC article.
Systematic review and quality assessment of clinical and economic evidence for superabsorbent wound dressings in a population with chronic ulcers.
M Veličković V, Macmillan T, Lones E, Arlouskaya Y, Prieto PA, Webb N, Crompton A, Munro I, Carvalho VF, Attila S, Bárdos D, Lin Y, Chiao H, Probst S. M Veličković V, et al. Among authors: webb n. Int Wound J. 2024 Mar;21(3):e14750. doi: 10.1111/iwj.14750. Int Wound J. 2024. PMID: 38468367 Free PMC article. Review.
588 results