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Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA, Egner JM, Collier JJ, Russell OM, Alston CL, Harwig MC, Widlansky ME, Sasorith S, Barbosa IA, Douglas AG, Baptista J, Walker M, Donnelly DE, Morris AA, Tan HJ, Kurian MA, Gorman K, Mordekar S, Deshpande C, Samanta R, McFarland R, Hill RB, Taylor RW, Oláhová M. Nolden KA, et al. Among authors: taylor rw. Life Sci Alliance. 2022 Aug 1;5(12):e202101284. doi: 10.26508/lsa.202101284. Print 2022 Dec. Life Sci Alliance. 2022. PMID: 35914810 Free PMC article.
Systematic review and meta-analysis of augmentation and combination treatments for early-stage treatment-resistant depression.
Scott F, Hampsey E, Gnanapragasam S, Carter B, Marwood L, Taylor RW, Emre C, Korotkova L, Martín-Dombrowski J, Cleare AJ, Young AH, Strawbridge R. Scott F, et al. Among authors: taylor rw. J Psychopharmacol. 2022 Jul 21:2698811221104058. doi: 10.1177/02698811221104058. Online ahead of print. J Psychopharmacol. 2022. PMID: 35861202 Free article.
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: taylor rw. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Lok A, Fernandez-Garcia MA, Taylor RW, French C, MacFarland R, Bodi I, Champion M, Josifova D, Raymond FL, Iuso A, Jungbluth H, Milan A, Singh RR. Lok A, et al. Among authors: taylor rw. Am J Med Genet A. 2022 Sep;188(9):2783-2789. doi: 10.1002/ajmg.a.62848. Epub 2022 May 26. Am J Med Genet A. 2022. PMID: 35616428
910 results