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

Year Number of Results
2008 1
2009 13
2010 20
2011 14
2012 26
2013 20
2014 18
2015 26
2016 33
2017 22
2018 24
2019 31
2020 20
2021 8
2022 6
2024 0

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241 results

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Page 1
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Aldosary M, Alsagob M, AlQudairy H, González-Álvarez AC, Arold ST, Dababo MA, Alharbi OA, Almass R, AlBakheet A, AlSarar D, Qari A, Al-Ansari MM, Oláhová M, Al-Shahrani SA, AlSayed M, Colak D, Taylor RW, AlOwain M, Kaya N. Aldosary M, et al. Cells. 2022 Oct 7;11(19):3154. doi: 10.3390/cells11193154. Cells. 2022. PMID: 36231115 Free PMC article.
Novel <i>DNM1L</i> 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. Life Sci Alliance. 2022 Aug 1;5(12):e202101284. doi: 10.26508/lsa.202101284. Life Sci Alliance. 2022. PMID: 35914810 Free PMC article.
Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.
Fullam TR, Chandrashekhar S, Farmakidis C, Jawdat O, Pasnoor M, Dimachkie MM, Statland JM; CINCH Consortium. Fullam TR, et al. Muscle Nerve. 2022 Aug;66(2):148-158. doi: 10.1002/mus.27649. Epub 2022 Jun 16. Muscle Nerve. 2022. PMID: 35644941 Free PMC article.
The Effect of tRNA[Ser]Sec Isopentenylation on Selenoprotein Expression.
Fradejas-Villar N, Bohleber S, Zhao W, Reuter U, Kotter A, Helm M, Knoll R, McFarland R, Taylor RW, Mo Y, Miyauchi K, Sakaguchi Y, Suzuki T, Schweizer U. Fradejas-Villar N, et al. Int J Mol Sci. 2021 Oct 23;22(21):11454. doi: 10.3390/ijms222111454. Int J Mol Sci. 2021. PMID: 34768885 Free PMC article.
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
Vidali S, Gerlini R, Thompson K, Urquhart JE, Meisterknecht J, Aguilar-Pimentel JA, Amarie OV, Becker L, Breen C, Calzada-Wack J, Chhabra NF, Cho YL, da Silva-Buttkus P, Feichtinger RG, Gampe K, Garrett L, Hoefig KP, Hölter SM, Jameson E, Klein-Rodewald T, Leuchtenberger S, Marschall S, Mayer-Kuckuk P, Miller G, Oestereicher MA, Pfannes K, Rathkolb B, Rozman J, Sanders C, Spielmann N, Stoeger C, Szibor M, Treise I, Walter JH, Wurst W, Mayr JA, Fuchs H, Gärtner U, Wittig I, Taylor RW, Newman WG, Prokisch H, Gailus-Durner V, Hrabě de Angelis M. Vidali S, et al. EMBO Mol Med. 2021 Dec 7;13(12):e14397. doi: 10.15252/emmm.202114397. Epub 2021 Nov 8. EMBO Mol Med. 2021. PMID: 34750991 Free PMC article.
Emerging roles of ATG7 in human health and disease.
Collier JJ, Suomi F, Oláhová M, McWilliams TG, Taylor RW. Collier JJ, et al. EMBO Mol Med. 2021 Dec 7;13(12):e14824. doi: 10.15252/emmm.202114824. Epub 2021 Nov 2. EMBO Mol Med. 2021. PMID: 34725936 Free PMC article. Review.
241 results