Works by Bonkowsky, Joshua

Results: 68
    1
    2
    3
    4
    5
    6
    7

    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

    Published in:
    JAMA Neurology, 2022, v. 79, n. 12, p. 1267, doi. 10.1001/jamaneurol.2022.3651
    By:
    • McKnight, Dianalee;
    • Morales, Ana;
    • Hatchell, Kathryn E.;
    • Bristow, Sara L.;
    • Bonkowsky, Joshua L.;
    • Perry, Michael Scott;
    • Berg, Anne T.;
    • Borlot, Felippe;
    • Esplin, Edward D.;
    • Moretz, Chad;
    • Angione, Katie;
    • Ríos-Pohl, Loreto;
    • Nussbaum, Robert L.;
    • Aradhya, Swaroop;
    • Haldeman-Englert, Chad R.;
    • Levy, Rebecca J.;
    • Parachuri, Venu G.;
    • Lay-Son, Guillermo;
    • de Montellano, David J. Dávila-Ortiz;
    • Ramirez-Garcia, Miguel Angel
    Publication type:
    Article
    8
    9
    10

    Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.

    Published in:
    2021
    By:
    • Raas, Quentin;
    • van de Beek, Malu-Clair;
    • Forss-Petter, Sonja;
    • Dijkstra, Inge M. E.;
    • Deschiffart, Abigail;
    • Freshner, Briana C.;
    • Stevenson, Tamara J.;
    • Jaspers, Yorrick R. J.;
    • Nagtzaam, Liselotte;
    • Wanders, Ronald J. A.;
    • van Weeghel, Michel;
    • Joo-Yeon Engelen-Lee;
    • Engelen, Marc;
    • Eichler, Florian;
    • Berger, Johannes;
    • Bonkowsky, Joshua L.;
    • Kemp, Stephan;
    • Dijkstra, Inge Me;
    • Jaspers, Yorrick Rj;
    • Nagtzaam, Liselotte M
    Publication type:
    journal article
    11
    12
    13
    14

    Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.

    Published in:
    BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03354-9
    By:
    • Schoenmakers, Daphne H.;
    • Leferink, Prisca S.;
    • Vanderver, Adeline;
    • Bonkowsky, Joshua L.;
    • Krägeloh-Mann, Ingeborg;
    • Bernard, Geneviève;
    • Bertini, Enrico;
    • Fatemi, Ali;
    • Fogel, Brent L.;
    • Wolf, Nicole I.;
    • Skwirut, Donna;
    • Buck, Allyson;
    • Holberg, Brett;
    • Saunier-Vivar, Elise F.;
    • Rauner, Robert;
    • Dekker, Hanka;
    • van Bokhoven, Pieter;
    • Stellingwerff, Menno D.;
    • Berkhof, Johannes;
    • van der Knaap, Marjo S.
    Publication type:
    Article
    15

    A pragmatic approach to ALTEs.

    Published in:
    Contemporary Pediatrics, 2009, v. 26, n. 11, p. 54
    By:
    • BONKOWSKY, JOSHUA L.;
    • TIEDER, JOEL S.
    Publication type:
    Article
    16
    17

    Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.

    Published in:
    Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006242
    By:
    • Reynolds, Hayley M.;
    • Ting Wen;
    • Farrell, Andrew;
    • Rong Mao;
    • Moore, Barry;
    • Boyden, Steven E.;
    • Bayrak-Toydemir, Pinar;
    • Nicholas, Thomas J.;
    • Rynearson, Shawn;
    • Holt, Carson;
    • Miller, Christine;
    • Noble, Katherine;
    • Bentley, Dawn;
    • Palmquist, Rachel;
    • Ostrander, Betsy;
    • Manberg, Stephanie;
    • Bonkowsky, Joshua L.;
    • Shayota, Brian J.;
    • Jenkins, Sabrina Malone
    Publication type:
    Article
    18

    Preventable infections in children with leukodystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2014, v. 1, n. 5, p. 370, doi. 10.1002/acn3.61
    By:
    • Anderson, Holly M.;
    • Wilkes, Jacob;
    • Korgenski, Ernest Kent;
    • Pulsipher, Michael A.;
    • Blaschke, Anne J.;
    • Hersh, Adam L.;
    • Srivastava, Rajendu;
    • Bonkowsky, Joshua L.
    Publication type:
    Article
    19
    20
    21
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41

    Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.

    Published in:
    Annals of Neurology, 2022, v. 92, n. 5, p. 895, doi. 10.1002/ana.26477
    By:
    • Helman, Guy;
    • Zarekiani, Parand;
    • Tromp, Samantha A.M.;
    • Andrews, Ashley;
    • Botto, Lorenzo D.;
    • Bonkowsky, Joshua L.;
    • Chassevent, Anna;
    • Giorgio, Elisa;
    • Pippucci, Tommaso;
    • Wei, Shen;
    • Smith‐Hicks, Constance;
    • Vaula, Giovanna;
    • Willemsen, Michèl A.A.P;
    • Schimmel, Mareike;
    • Vollert, Kurt;
    • Shimizu, Fumitaka;
    • Kanda, Takashi;
    • Lynch, Matthew;
    • Roscioli, Tony;
    • Taft, Ryan J.
    Publication type:
    Article
    42
    43
    44

    On the edge—A diagnostic odyssey.

    Published in:
    Clinical Case Reports, 2022, v. 10, n. 4, p. 1, doi. 10.1002/ccr3.5688
    By:
    • McLean, Hailey;
    • Palmquist, Rachel;
    • Nadauld, Lincoln D.;
    • Malone Jenkins, Sabrina;
    • Bonkowsky, Joshua;
    • Filloux, Francis
    Publication type:
    Article
    45
    46
    47
    48

    Progress in leukodystrophies with zebrafish.

    Published in:
    Development, Growth & Differentiation, 2024, v. 66, n. 1, p. 21, doi. 10.1111/dgd.12907
    By:
    • Shih, Hung‐Yu;
    • Raas, Quentin;
    • Bonkowsky, Joshua L.
    Publication type:
    Article
    49
    50

    Barriers, access and management of paediatric epilepsy with telehealth.

    Published in:
    2022
    By:
    • Gali, Kari;
    • Joshi, Sucheta;
    • Hueneke, Sarah;
    • Katzenbach, Alexis;
    • Radecki, Linda;
    • Calabrese, Trisha;
    • Fletcher, Linda;
    • Trandafir, Cristina;
    • Wilson, Carey;
    • Goyal, Monisha;
    • Wusthoff, Courtney J;
    • Le Pichon, Jean-Baptiste;
    • Corvalan, Rhonda;
    • Golson, April;
    • Hardy, Jessica;
    • Smith, Michael;
    • Cook, Elizabeth;
    • Bonkowsky, Joshua L
    Publication type:
    Journal Article