Works matching IS 00068950 AND DT 2014 AND VI 137 AND IP 2


Results: 37
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    Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

    Published in:
    2014
    By:
    • Giordano, Carla;
    • Iommarini, Luisa;
    • Giordano, Luca;
    • Maresca, Alessandra;
    • Pisano, Annalinda;
    • Valentino, Maria Lucia;
    • Caporali, Leonardo;
    • Liguori, Rocco;
    • Deceglie, Stefania;
    • Roberti, Marina;
    • Fanelli, Francesca;
    • Fracasso, Flavio;
    • Ross-Cisneros, Fred N;
    • D'Adamo, Pio;
    • Hudson, Gavin;
    • Pyle, Angela;
    • Yu-Wai-Man, Patrick;
    • Chinnery, Patrick F;
    • Zeviani, Massimo;
    • Salomao, Solange R
    Publication type:
    journal article
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    Editorial.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 307, doi. 10.1093/brain/awt378
    By:
    • Kullmann, Dimitri
    Publication type:
    Article
    12

    Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 335, doi. 10.1093/brain/awt343
    By:
    • Giordano, Carla;
    • Iommarini, Luisa;
    • Giordano, Luca;
    • Maresca, Alessandra;
    • Pisano, Annalinda;
    • Valentino, Maria Lucia;
    • Caporali, Leonardo;
    • Liguori, Rocco;
    • Deceglie, Stefania;
    • Roberti, Marina;
    • Fanelli, Francesca;
    • Fracasso, Flavio;
    • Ross-Cisneros, Fred N.;
    • D’Adamo, Pio;
    • Hudson, Gavin;
    • Pyle, Angela;
    • Yu-Wai-Man, Patrick;
    • Chinnery, Patrick F.;
    • Zeviani, Massimo;
    • Salomao, Solange R.
    Publication type:
    Article
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    Epileptic seizures in diffuse low-grade gliomas in adults.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 449, doi. 10.1093/brain/awt345
    By:
    • Pallud, Johan;
    • Audureau, Etienne;
    • Blonski, Marie;
    • Sanai, Nader;
    • Bauchet, Luc;
    • Fontaine, Denys;
    • Mandonnet, Emmanuel;
    • Dezamis, Edouard;
    • Psimaras, Dimitri;
    • Guyotat, Jacques;
    • Peruzzi, Philippe;
    • Page, Philippe;
    • Gal, Beatriz;
    • Párraga, Eduardo;
    • Baron, Marie-Hélène;
    • Vlaicu, Michaela;
    • Guillevin, Rémy;
    • Devaux, Bertrand;
    • Duffau, Hugues;
    • Taillandier, Luc
    Publication type:
    Article
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    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 411, doi. 10.1093/brain/awt338
    By:
    • Mallaret, Martial;
    • Synofzik, Matthis;
    • Lee, Jaeho;
    • Sagum, Cari A.;
    • Mahajnah, Muhammad;
    • Sharkia, Rajech;
    • Drouot, Nathalie;
    • Renaud, Mathilde;
    • Klein, Fabrice A. C.;
    • Anheim, Mathieu;
    • Tranchant, Christine;
    • Mignot, Cyril;
    • Mandel, Jean-Louis;
    • Bedford, Mark;
    • Bauer, Peter;
    • Salih, Mustafa A.;
    • Schüle, Rebecca;
    • Schöls, Ludger;
    • Aldaz, C. Marcelo;
    • Koenig, Michel
    Publication type:
    Article
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    Hypertrophic pachymeningitis: significance of myeloperoxidase anti-neutrophil cytoplasmic antibody.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 520, doi. 10.1093/brain/awt314
    By:
    • Yokoseki, Akiko;
    • Saji, Etsuji;
    • Arakawa, Musashi;
    • Kosaka, Takayuki;
    • Hokari, Mariko;
    • Toyoshima, Yasuko;
    • Okamoto, Kouichirou;
    • Takeda, Shigeki;
    • Sanpei, Kazuhiro;
    • Kikuchi, Hirotoshi;
    • Hirohata, Shunsei;
    • Akazawa, Kouhei;
    • Kakita, Akiyoshi;
    • Takahashi, Hitoshi;
    • Nishizawa, Masatoyo;
    • Kawachi, Izumi
    Publication type:
    Article
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    The caudate: a key node in the neuronal network imbalance of insomnia?

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 610, doi. 10.1093/brain/awt329
    By:
    • Stoffers, Diederick;
    • Altena, Ellemarije;
    • van der Werf, Ysbrand D.;
    • Sanz-Arigita, Ernesto J.;
    • Voorn, Thom A.;
    • Astill, Rebecca G.;
    • Strijers, Rob L. M.;
    • Waterman, Dé;
    • Van Someren, Eus J. W.
    Publication type:
    Article
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    Sustained peripheral depletion of amyloid-β with a novel form of neprilysin does not affect central levels of amyloid-β.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 553, doi. 10.1093/brain/awt308
    By:
    • Henderson, Simon J.;
    • Andersson, Christin;
    • Narwal, Rajesh;
    • Janson, Juliette;
    • Goldschmidt, Tom J.;
    • Appelkvist, Paulina;
    • Bogstedt, Anna;
    • Steffen, Ann-Charlott;
    • Haupts, Ulrich;
    • Tebbe, Jan;
    • Freskgård, Per Ola;
    • Jermutus, Lutz;
    • Burrell, Matthew;
    • Fowler, Susan B.;
    • Webster, Carl I.
    Publication type:
    Article
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    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 366, doi. 10.1093/brain/awt328
    By:
    • Baker, Peter R.;
    • Friederich, Marisa W.;
    • Swanson, Michael A.;
    • Shaikh, Tamim;
    • Bhattacharya, Kaustuv;
    • Scharer, Gunter H.;
    • Aicher, Joseph;
    • Creadon-Swindell, Geralyn;
    • Geiger, Elizabeth;
    • MacLean, Kenneth N.;
    • Lee, Wang-Tso;
    • Deshpande, Charu;
    • Freckmann, Mary-Louise;
    • Shih, Ling-Yu;
    • Wasserstein, Melissa;
    • Rasmussen, Malene B.;
    • Lund, Allan M.;
    • Procopis, Peter;
    • Cameron, Jessie M.;
    • Robinson, Brian H.
    Publication type:
    Article
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    From The Archives.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 640, doi. 10.1093/brain/awu004
    By:
    • Compston, Alastair
    Publication type:
    Article
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    The neurology of itch.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 313, doi. 10.1093/brain/awt158
    By:
    • Dhand, Amar;
    • Aminoff, Michael J.
    Publication type:
    Article
    35

    A (mini) pill for stroke?

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 311, doi. 10.1093/brain/awt365
    By:
    • Macleod, Malcolm
    Publication type:
    Article
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