Works matching IS 00068950 AND DT 2014 AND VI 137 AND IP 4


Results: 50
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    Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

    Published in:
    2014
    By:
    • Van Scherpenzeel, Monique;
    • Timal, Sharita;
    • Rymen, Daisy;
    • Hoischen, Alexander;
    • Wuhrer, Manfred;
    • Hipgrave-Ederveen, Agnes;
    • Grunewald, Stephanie;
    • Peanne, Romain;
    • Saada, Ann;
    • Edvardson, Shimon;
    • Grønborg, Sabine;
    • Ruijter, George;
    • Kattentidt-Mouravieva, Anna;
    • Brum, Jaime Moritz;
    • Freckmann, Mary-Louise;
    • Tomkins, Susan;
    • Jalan, Anil;
    • Prochazkova, Dagmar;
    • Ondruskova, Nina;
    • Hansikova, Hana
    Publication type:
    journal article
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    Editorial.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 973, doi. 10.1093/brain/awu054
    By:
    • Kullmann, Dimitri M.
    Publication type:
    Article
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    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1019, doi. 10.1093/brain/awu026
    By:
    • van Berge, Laura;
    • Hamilton, Eline M.;
    • Linnankivi, Tarja;
    • Uziel, Graziella;
    • Steenweg, Marjan E.;
    • Isohanni, Pirjo;
    • Wolf, Nicole I.;
    • Krägeloh-Mann, Ingeborg;
    • Brautaset, Nils J.;
    • Andrews, P. Ian;
    • de Jong, Brigit A.;
    • al Ghamdi, Malak;
    • van Wieringen, Wessel N.;
    • Tannous, Bakhos A.;
    • Hulleman, Esther;
    • Würdinger, Thomas;
    • van Berkel, Carola G. M.;
    • Polder, Emiel;
    • Abbink, Truus E. M.;
    • Struys, Eduard A.
    Publication type:
    Article
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    White matter development in children with benign childhood epilepsy with centro-temporal spikes.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1095, doi. 10.1093/brain/awu039
    By:
    • Ciumas, Carolina;
    • Saignavongs, Mani;
    • Ilski, Faustine;
    • Herbillon, Vania;
    • Laurent, Agathe;
    • Lothe, Amelie;
    • Heckemann, Rolf A.;
    • de Bellescize, Julitta;
    • Panagiotakaki, Eleni;
    • Hannoun, Salem;
    • Marinier, Dominique Sappey;
    • Montavont, Alexandra;
    • Ostrowsky-Coste, Karine;
    • Bedoin, Nathalie;
    • Ryvlin, Philippe
    Publication type:
    Article
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    Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1107, doi. 10.1093/brain/awu022
    By:
    • Ng, Joanne;
    • Zhen, Juan;
    • Meyer, Esther;
    • Erreger, Kevin;
    • Li, Yan;
    • Kakar, Naseebullah;
    • Ahmad, Jamil;
    • Thiele, Holger;
    • Kubisch, Christian;
    • Rider, Nicholas L.;
    • Holmes Morton, D.;
    • Strauss, Kevin A.;
    • Puffenberger, Erik G.;
    • D’Agnano, Daniela;
    • Anikster, Yair;
    • Carducci, Claudia;
    • Hyland, Keith;
    • Rotstein, Michael;
    • Leuzzi, Vincenzo;
    • Borck, Guntram
    Publication type:
    Article
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    From The Archives.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1266, doi. 10.1093/brain/awu055
    By:
    • Compston, Alastair
    Publication type:
    Article
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    Sad psychosurgery.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1262, doi. 10.1093/brain/awt301
    By:
    • Garfield, John
    Publication type:
    Article
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    Corrigendum.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. e265, doi. 10.1093/brain/awt059
    Publication type:
    Article
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    Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1030, doi. 10.1093/brain/awu019
    By:
    • Van Scherpenzeel, Monique;
    • Timal, Sharita;
    • Rymen, Daisy;
    • Hoischen, Alexander;
    • Wuhrer, Manfred;
    • Hipgrave-Ederveen, Agnes;
    • Grunewald, Stephanie;
    • Peanne, Romain;
    • Saada, Ann;
    • Edvardson, Shimon;
    • Grønborg, Sabine;
    • Ruijter, George;
    • Kattentidt-Mouravieva, Anna;
    • Brum, Jaime Moritz;
    • Freckmann, Mary-Louise;
    • Tomkins, Susan;
    • Jalan, Anil;
    • Prochazkova, Dagmar;
    • Ondruskova, Nina;
    • Hansikova, Hana
    Publication type:
    Article