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A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Hum Mol Genet. 2020 Nov 25;29(19):3266-3284. doi: 10.1093/hmg/ddaa202.
Hum Mol Genet. 2020.
PMID: 32969477
Free PMC article.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium; Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.
Johnstone DL, et al. Among authors: al shekaili hh.
Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.
Brain. 2019.
PMID: 30668673
Free PMC article.
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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM Jr, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL.
Engelke UF, et al. Among authors: al shekaili hh.
J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272.
J Clin Invest. 2021.
PMID: 34138754
Free PMC article.
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Huntingtin Decreases Susceptibility to a Spontaneous Seizure Disorder in FVN/B Mice.
Van Raamsdonk JM, Al-Shekaili HH, Wagner L, Bredy TW, Chan L, Pearson J, Schwab C, Murphy Z, Devon RS, Lu G, Kobor MS, Hayden MR, Leavitt BR.
Van Raamsdonk JM, et al. Among authors: al shekaili hh.
Aging Dis. 2023 Dec 1;14(6):2249-2266. doi: 10.14336/AD.2023.0423.
Aging Dis. 2023.
PMID: 37199581
Free PMC article.
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