Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Huntingtin Decreases Susceptibility to a Spontaneous Seizure Disorder in FVN/B Mice.
Aging Dis. 2023 Dec 1;14(6):2249-2266. doi: 10.14336/AD.2023.0423.
Aging Dis. 2023.
PMID: 37199581
Free PMC article.
PLPBP Deficiency.
Al-Shekaili H, Ciapaite J, van Karnebeek C, Pena I.
Al-Shekaili H, et al.
2023 Feb 16. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2023 Feb 16. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 36795901
Free Books & Documents.
Review.
Item in Clipboard
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.
Item in Clipboard
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Al-Shekaili HH, Petkau TL, Pena I, Lengyell TC, Verhoeven-Duif NM, Ciapaite J, Bosma M, van Faassen M, Kema IP, Horvath G, Ross C, Simpson EM, Friedman JM, van Karnebeek C, Leavitt BR.
Al-Shekaili HH, et al.
Hum Mol Genet. 2020 Nov 25;29(19):3266-3284. doi: 10.1093/hmg/ddaa202.
Hum Mol Genet. 2020.
PMID: 32969477
Free PMC article.
Item in Clipboard
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.
Item in Clipboard
Macular cystoid spaces in patients with retinal dystrophy.
Lingao MD, Ganesh A, Karthikeyan AS, Al Zuhaibi S, Al-Hosni A, Al Khayat A, Capasso J, Trumler AA, Stroh E, Al Shekaili H, Cater JR, Levin AV.
Lingao MD, et al. Among authors: al shekaili h.
Ophthalmic Genet. 2016 Dec;37(4):377-383. doi: 10.3109/13816810.2015.1101775. Epub 2016 Feb 19.
Ophthalmic Genet. 2016.
PMID: 26894784
Item in Clipboard
Cite
Cite