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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ. Haack TB, et al. Among authors: kruer mc. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176820 Free PMC article.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
Neuroimaging features of neurodegeneration with brain iron accumulation.
Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, Anderson JC, Rooney WD, Hogarth P, Hayflick SJ. Kruer MC, et al. AJNR Am J Neuroradiol. 2012 Mar;33(3):407-14. doi: 10.3174/ajnr.A2677. Epub 2011 Sep 15. AJNR Am J Neuroradiol. 2012. PMID: 21920862 Free PMC article. Review.
129 results