Works matching Biochemical mutations


Results: 723
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    A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

    Published in:
    Human Mutation, 2008, v. 29, n. 4, p. 522, doi. 10.1002/humu.20682
    By:
    • Arnoldi, Alessia;
    • Tonelli, Alessandra;
    • Crippa, Francesca;
    • Villani, Gaetano;
    • Pacelli, Consiglia;
    • Sironi, Manuela;
    • Pozzoli, Uberto;
    • D'Angelo, Maria Grazia;
    • Meola, Giovanni;
    • Martinuzzi, Andrea;
    • Crimella, Claudia;
    • Redaelli, Francesca;
    • Panzeri, Chris;
    • Renieri, Alessandra;
    • Comi, Giacomo Pietro;
    • Turconi, Anna Carla;
    • Bresolin, Nereo;
    • Bassi, Maria Teresa
    Publication type:
    Article
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    Clinical and biochemical characterization of four patients with mutations in ECHS1.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
    By:
    • Ferdinandusse, Sacha;
    • Friederich, Marisa W.;
    • Burlina, Alberto;
    • Ruiter, Jos P. N.;
    • Coughlin II, Curtis R.;
    • Dishop, Megan K.;
    • Gallagher, Renata C.;
    • Bedoyan, Jirair K.;
    • Vaz, Frédéric M.;
    • Waterham, Hans R.;
    • Gowan, Katherine;
    • Chatfield, Kathryn;
    • Bloom, Kaitlyn;
    • Bennett, Michael J.;
    • Elpeleg, Orly;
    • Van Hove, Johan L. K.;
    • Wanders, Ronald J. A.
    Publication type:
    Article
    34

    Clinical and biochemical characterization of four patients with mutations in ECHS1

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
    By:
    • Ferdinandusse, Sacha;
    • Friederich, Marisa W.;
    • Burlina, Alberto;
    • Ruiter, Jos P. N.;
    • Coughlin II, Curtis R.;
    • Dishop, Megan K.;
    • Gallagher, Renata C.;
    • Bedoyan, Jirair K.;
    • Vaz, Frédéric M.;
    • Waterham, Hans R.;
    • Gowan, Katherine;
    • Chatfield, Kathryn;
    • Bloom, Kaitlyn;
    • Bennett, Michael J.;
    • Elpeleg, Orly;
    • Van Hove, Johan L. K.;
    • Wanders, Ronald J. A.
    Publication type:
    Article
    35

    Clinical and biochemical characterization of four patients with mutations in ECHS1.

    Published in:
    2015
    By:
    • Ferdinandusse, Sacha;
    • Friederich, Marisa W;
    • Burlina, Alberto;
    • Ruiter, Jos P N;
    • Coughlin 2nd, Curtis R;
    • Dishop, Megan K;
    • Gallagher, Renata C;
    • Bedoyan, Jirair K;
    • Vaz, Frédéric M;
    • Waterham, Hans R;
    • Gowan, Katherine;
    • Chatfield, Kathryn;
    • Bloom, Kaitlyn;
    • Bennett, Michael J;
    • Elpeleg, Orly;
    • Van Hove, Johan L K;
    • Wanders, Ronald J A;
    • Coughlin, Curtis R 2nd
    Publication type:
    journal article
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    BIOCHEMICAL ANALYSIS OF TREM2 DISEASE MUTATIONS.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P1149, doi. 10.1016/j.jalz.2016.07.046
    By:
    • Sirkis, Daniel W.;
    • Aparicio, Renan E.;
    • Schekman, Randy
    Publication type:
    Article
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