Works matching IS 00068950 AND DT 2017 AND VI 140 AND IP 2


Results: 31
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    Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

    Published in:
    2017
    By:
    • Estrada-Cuzcano, Alejandro;
    • Martin, Shaun;
    • Chamova, Teodora;
    • Synofzik, Matthis;
    • Timmann, Dagmar;
    • Holemans, Tine;
    • Andreeva, Albena;
    • Reichbauer, Jennifer;
    • De Rycke, Riet;
    • Dae-In Chang;
    • van Veen, Sarah;
    • Samuel, Jean;
    • Schöls, Ludger;
    • Pöppel, Thorsten;
    • Mollerup Sørensen, Danny;
    • Asselbergh, Bob;
    • Klein, Christine;
    • Zuchner, Stephan;
    • Jordanova, Albena;
    • Vangheluwe, Peter
    Publication type:
    journal article
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    CAD mutations and uridine-responsive epileptic encephalopathy.

    Published in:
    2017
    By:
    • Koch, Johannes;
    • Mayr, Johannes A.;
    • Alhaddad, Bader;
    • Rauscher, Christian;
    • Bierau, Jörgen;
    • Kovacs-Nagy, Reka;
    • Coene, Karlien L. M.;
    • Bader, Ingrid;
    • Holzhacker, Monika;
    • Prokisch, Holger;
    • Venselaar, Hanka;
    • Wevers, Ron A.;
    • Distelmaier, Felix;
    • Polster, Tilman;
    • Leiz, Steffen;
    • Betzler, Cornelia;
    • Strom, Tim M.;
    • Sperl, Wolfgang;
    • Meitinger, Thomas;
    • Wortmann, Saskia B.
    Publication type:
    journal article
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    Connectomic correlates of response to treatment in first-episode psychosis.

    Published in:
    2017
    By:
    • Crossley, Nicolas A.;
    • Marques, Tiago Reis;
    • Taylor, Heather;
    • Chaddock, Chris;
    • Dell'Acqua, Flavio;
    • Reinders, Antje A. T. S.;
    • Mondelli, Valeria;
    • DiForti, Marta;
    • Simmons, Andrew;
    • David, Anthony S.;
    • Kapur, Shitij;
    • Pariante, Carmine M.;
    • Murray, Robin M.;
    • Dazzan, Paola
    Publication type:
    journal article
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    Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

    Published in:
    2017
    By:
    • Falik Zaccai, Tzipora C.;
    • Savitzki, David;
    • Zivony-Elboum, Yifat;
    • Vilboux, Thierry;
    • Fitts, Eric C.;
    • Shoval, Yishay;
    • Kalfon, Limor;
    • Samra, Nadra;
    • Keren, Zohar;
    • Gross, Bella;
    • Chasnyk, Natalia;
    • Straussberg, Rachel;
    • Mullikin, James C.;
    • Teer, Jamie K.;
    • Geiger, Dan;
    • Kornitzer, Daniel;
    • Bitterman-Deutsch, Ora;
    • Samson, Abraham O.;
    • Maki Wakamiya;
    • Peterson, Johnny W.
    Publication type:
    journal article
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