PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo W T, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald J A, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, van Karnebeek, Clara D M
Published in Brain (London, England : 1878) (01.03.2019)
Published in Brain (London, England : 1878) (01.03.2019)
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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
Engelke, Udo F.H, van Outersterp, Rianne E, Merx, Jona, van Geenen, Fred A.M.G, van Rooij, Arno, Berden, Giel, Huigen, Marleen C.D.G, Kluijtmans, Leo A.J, Peters, Tessa M.A, Shekaili, Hilal H. Al, Leavitt, Blair R, de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A, Kulkarni, Purva, Rutjes, Floris P.J.T, Mecinovic, Jasmin, Struys, Eduard A, Jansen, Laura A, Gospe, Sidney M., Jr, Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michel A.A.P, Bok, Levinus A, van Karnebeek, Clara D.M, Wevers, Ron A, Boltje, Thomas J, Oomens, Jos, Martens, Jonathan, Coene, Karlien L.M
Published in The Journal of clinical investigation (01.08.2021)
Published in The Journal of clinical investigation (01.08.2021)
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A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency
Al-Shekaili, Hilal H, Petkau, Terri L, Pena, Izabella, Lengyell, Tess C, Verhoeven-Duif, Nanda M, Ciapaite, Jolita, Bosma, Marjolein, van Faassen, Martijn, Kema, Ido P, Horvath, Gabriella, Ross, Colin, Simpson, Elizabeth M, Friedman, Jan M, van Karnebeek, Clara, Leavitt, Blair R
Published in Human molecular genetics (25.11.2020)
Published in Human molecular genetics (25.11.2020)
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Huntingtin Decreases Susceptibility to a Spontaneous Seizure Disorder in FVN/B Mice
Van Raamsdonk, Jeremy M, Al-Shekaili, Hilal H, Wagner, Laura, Bredy, Tim W, Chan, Laura, Pearson, Jacqueline, Schwab, Claudia, Murphy, Zoe, Devon, Rebecca S, Lu, Ge, Kobor, Michael S, Hayden, Michael R, Leavitt, Blair R
Published in Aging and disease (01.12.2023)
Published in Aging and disease (01.12.2023)
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Journal Article
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxinedependent epilepsy
Engelke, Udo F H, van Outersterp, Rianne E, Merx, Jona, van Geenen, Fred A M G, van Rooij, Arno, Berden, Giel, Huigen, Marleen C D G, Kluijtmans, Leo A J, Peters, Tessa M A, Al-Shekaili, Hilal H, Leavitt, Blair R, de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A, Kulkarni, Purva, Rutjes, Floris P J T, Mecinović, Jasmin, Struys, Eduard A, Jansen, Laura A, Gospe, Sidney M, Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michel A A P, Bok, Levinus A, van Karnebeek, Clara D M, Wevers, Ron A, Boltje, Thomas J, Oomens, Jos, Martens, Jonathan, Coene, Karlien L M
Published in The Journal of clinical investigation (01.08.2021)
Published in The Journal of clinical investigation (01.08.2021)
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Journal Article
Macular cystoid spaces in patients with retinal dystrophy
Lingao, Michelle D, Ganesh, Anuradha, Karthikeyan, Arcot S, Al Zuhaibi, Sana, Al-Hosni, Amna, Al Khayat, Aisha, Capasso, Jenina, Trumler, Anya A, Stroh, Eliza, Al Shekaili, Hilal, Cater, Jacqueline R, Levin, Alex V
Published in Ophthalmic genetics (01.12.2016)
Published in Ophthalmic genetics (01.12.2016)
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Journal Article
Huntingtin expression influences spontaneous seizure disorder susceptibility in FVN/B mice
Jeremy Van Raamsdonk, Al-Shekaili, Hilal, Wagner, Laura, Bredy, Timothy, Chan, Laura Lynn, Pearson, Jacqueline, Schwab, Claudia, Murphy, Zoe, Devon, Rebecca S, Lu, Ge, Kobor, Michael S, Hayden, Michael R, Leavitt, Blair R
Published in bioRxiv (21.10.2022)
Published in bioRxiv (21.10.2022)
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Macular cystoid spaces in patients with retinal dystrophy
Lingao, Michelle D., Ganesh, Anuradha, Karthikeyan, Arcot S., Al Zuhaibi, Sana, Al-Hosni, Amna, Al Khayat, Aisha, Capasso, Jenina, Trumler, Anya A., Stroh, Eliza, Al Shekaili, Hilal, Cater, Jacqueline R., Levin, Alex V.
Published in Ophthalmic Genetics (01.10.2016)
Published in Ophthalmic Genetics (01.10.2016)
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