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  • Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

    Published in:
    Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 94, doi. 10.1093/brain/awz376
    By:
    • Fagerberg, Christina R;
    • Taylor, Adrian;
    • Distelmaier, Felix;
    • Schrøder, Henrik D;
    • Kibæk, Maria;
    • Wieczorek, Dagmar;
    • Tarnopolsky, Mark;
    • Brady, Lauren;
    • Larsen, Martin J;
    • Jamra, Rami A;
    • Seibt, Annette;
    • Hejbøl, Eva Kildall;
    • Gade, Else;
    • Markovic, Ljubo;
    • Klee, Dirk;
    • Nagy, Peter;
    • Rouse, Nicholas;
    • Agarwal, Prasoon;
    • Dolinsky, Vernon W;
    • Bakovic, Marica
    Publication type:
    Article

  • Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

    Published in:
    2019
    By:
    • Fagerberg, Christina R;
    • Taylor, Adrian;
    • Distelmaier, Felix;
    • Schrøder, Henrik D;
    • Kibæk, Maria;
    • Wieczorek, Dagmar;
    • Tarnopolsky, Mark;
    • Brady, Lauren;
    • Larsen, Martin J;
    • Jamra, Rami A;
    • Seibt, Annette;
    • Hejbøl, Eva Kildall;
    • Gade, Else;
    • Markovic, Ljubo;
    • Klee, Dirk;
    • Nagy, Peter;
    • Rouse, Nicholas;
    • Agarwal, Prasoon;
    • Dolinsky, Vernon W;
    • Bakovic, Marica
    Publication type:
    journal article

  • Association of <i>CHRDL1</i> Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness.

    Published in:
    PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104163
    By:
    • Davidson, Alice E.;
    • Cheong, Sek-Shir;
    • Hysi, Pirro G.;
    • Venturini, Cristina;
    • Plagnol, Vincent;
    • Ruddle, Jonathan B.;
    • Ali, Hala;
    • Carnt, Nicole;
    • Gardner, Jessica C.;
    • Hassan, Hala;
    • Gade, Else;
    • Kearns, Lisa;
    • Jelsig, Anne Marie;
    • Restori, Marie;
    • Webb, Tom R.;
    • Laws, David;
    • Cosgrove, Michael;
    • Hertz, Jens M.;
    • Russell-Eggitt, Isabelle;
    • Pilz, Daniela T.
    Publication type:
    Article