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Page 1
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW. Tuppen HA, et al. Brain. 2010 Oct;133(10):2952-63. doi: 10.1093/brain/awq232. Epub 2010 Sep 6. Brain. 2010. PMID: 20819849 Free PMC article.
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J. Dombi E, et al. Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22. Neurology. 2016. PMID: 27164671 Free PMC article. No abstract available.
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.
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Aldosary M, Baselm S, Abdulrahim M, Almass R, Alsagob M, AlMasseri Z, Huma R, AlQuait L, Al-Shidi T, Al-Obeid E, AlBakheet A, Alahideb B, Alahaidib L, Qari A, Taylor RW, Colak D, AlSayed MD, Kaya N. Aldosary M, et al. JIMD Rep. 2021 May 4;60(1):75-87. doi: 10.1002/jmd2.12218. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258143 Free PMC article.
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
Molecular characterization of Joubert syndrome in Saudi Arabia.
Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS. Alazami AM, et al. Hum Mutat. 2012 Oct;33(10):1423-8. doi: 10.1002/humu.22134. Epub 2012 Jul 11. Hum Mutat. 2012. PMID: 22693042
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