Works in Brain: A Journal of Neurology, 2013, Vol 136, Issue 5


Results: 39
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    Editorial.

    Published in:
    2013
    By:
    • Compston, Alastair
    Publication type:
    Journal Article
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    A genetic study of Wilson's disease in the United Kingdom.

    Published in:
    2013
    By:
    • Coffey, Alison J;
    • Durkie, Miranda;
    • Hague, Stephen;
    • McLay, Kirsten;
    • Emmerson, Jennifer;
    • Lo, Christine;
    • Klaffke, Stefanie;
    • Joyce, Christopher J;
    • Dhawan, Anil;
    • Hadzic, Nedim;
    • Mieli-Vergani, Giorgina;
    • Kirk, Richard;
    • Elizabeth Allen, K;
    • Nicholl, David;
    • Wong, Siew;
    • Griffiths, William;
    • Smithson, Sarah;
    • Giffin, Nicola;
    • Taha, Ali;
    • Connolly, Sally
    Publication type:
    journal article
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    A genetic study of Wilson’s disease in the United Kingdom.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1476, doi. 10.1093/brain/awt035
    By:
    • Coffey, Alison J.;
    • Durkie, Miranda;
    • Hague, Stephen;
    • McLay, Kirsten;
    • Emmerson, Jennifer;
    • Lo, Christine;
    • Klaffke, Stefanie;
    • Joyce, Christopher J.;
    • Dhawan, Anil;
    • Hadzic, Nedim;
    • Mieli-Vergani, Giorgina;
    • Kirk, Richard;
    • Elizabeth Allen, K.;
    • Nicholl, David;
    • Wong, Siew;
    • Griffiths, William;
    • Smithson, Sarah;
    • Giffin, Nicola;
    • Taha, Ali;
    • Connolly, Sally
    Publication type:
    Article
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    From The Archives.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1336, doi. 10.1093/brain/awt104
    By:
    • Compston, Alastair
    Publication type:
    Article
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    A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1544, doi. 10.1093/brain/awt086
    By:
    • Jonckheere, An I.;
    • Renkema, G. Herma;
    • Bras, Maaike;
    • van den Heuvel, Lambert P.;
    • Hoischen, Alexander;
    • Gilissen, Christian;
    • Nabuurs, Sander B.;
    • Huynen, Martijn A.;
    • de Vries, Maaike C.;
    • Smeitink, Jan A.M.;
    • Rodenburg, Richard J.T.
    Publication type:
    Article
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    OPA1 loss of function affects in vitro neuronal maturation.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1518, doi. 10.1093/brain/awt060
    By:
    • Bertholet, Ambre M.;
    • Millet, Aurélie M.E.;
    • Guillermin, Oriane;
    • Daloyau, Marlène;
    • Davezac, Noélie;
    • Miquel, Marie-Christine;
    • Belenguer, Pascale
    Publication type:
    Article
    22

    Parkinsonian apathy responds to dopaminergic stimulation of D2/D3 receptors with piribedil.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1568, doi. 10.1093/brain/awt067
    By:
    • Thobois, Stéphane;
    • Lhommée, Eugénie;
    • Klinger, Hélène;
    • Ardouin, Claire;
    • Schmitt, Emmanuelle;
    • Bichon, Amélie;
    • Kistner, Andrea;
    • Castrioto, Anna;
    • Xie, Jing;
    • Fraix, Valerie;
    • Pelissier, Pierre;
    • Chabardes, Stephan;
    • Mertens, Patrick;
    • Quesada, Jean-Louis;
    • Bosson, Jean-Luc;
    • Pollak, Pierre;
    • Broussolle, Emmanuel;
    • Krack, Paul
    Publication type:
    Article
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    Music is a higher revelation….

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1671, doi. 10.1093/brain/awt033
    By:
    • Kesselring, Jürg
    Publication type:
    Article
    25

    Editorial.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1333, doi. 10.1093/brain/awt109
    By:
    • Compston, Alastair
    Publication type:
    Article
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    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1534, doi. 10.1093/brain/awt054
    By:
    • Kevelam, Sietske H.;
    • Bugiani, Marianna;
    • Salomons, Gajja S.;
    • Feigenbaum, Annette;
    • Blaser, Susan;
    • Prasad, Chitra;
    • Häberle, Johannes;
    • Barić, Ivo;
    • Bakker, Ingrid M. C.;
    • Postma, Nienke L.;
    • Kanhai, Warsha A.;
    • Wolf, Nicole I.;
    • Abbink, Truus E. M.;
    • Waisfisz, Quinten;
    • Heutink, Peter;
    • van der Knaap, Marjo S.
    Publication type:
    Article
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    Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1508, doi. 10.1093/brain/awt074
    By:
    • Melià, Maria J.;
    • Kubota, Akatsuki;
    • Ortolano, Saida;
    • Vílchez, Juan J.;
    • Gámez, Josep;
    • Tanji, Kurenai;
    • Bonilla, Eduardo;
    • Palenzuela, Lluís;
    • Fernández-Cadenas, Israel;
    • Přistoupilová, Anna;
    • García-Arumí, Elena;
    • Andreu, Antoni L.;
    • Navarro, Carmen;
    • Hirano, Michio;
    • Martí, Ramon
    Publication type:
    Article
    31

    Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer’s disease.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1399, doi. 10.1093/brain/awt065
    By:
    • Ryan, Natalie S.;
    • Keihaninejad, Shiva;
    • Shakespeare, Timothy J.;
    • Lehmann, Manja;
    • Crutch, Sebastian J.;
    • Malone, Ian B.;
    • Thornton, John S.;
    • Mancini, Laura;
    • Hyare, Harpreet;
    • Yousry, Tarek;
    • Ridgway, Gerard R.;
    • Zhang, Hui;
    • Modat, Marc;
    • Alexander, Daniel C.;
    • Rossor, Martin N.;
    • Ourselin, Sebastien;
    • Fox, Nick C.
    Publication type:
    Article
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    Loss of TDP-43 causes age-dependent progressive motor neuron degeneration.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1371, doi. 10.1093/brain/awt029
    By:
    • Iguchi, Yohei;
    • Katsuno, Masahisa;
    • Niwa, Jun-ichi;
    • Takagi, Shinnosuke;
    • Ishigaki, Shinsuke;
    • Ikenaka, Kensuke;
    • Kawai, Kaori;
    • Watanabe, Hirohisa;
    • Yamanaka, Koji;
    • Takahashi, Ryosuke;
    • Misawa, Hidemi;
    • Sasaki, Shoichi;
    • Tanaka, Fumiaki;
    • Sobue, Gen
    Publication type:
    Article
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    Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1578, doi. 10.1093/brain/awt073
    By:
    • McTague, Amy;
    • Appleton, Richard;
    • Avula, Shivaram;
    • Cross, J. Helen;
    • King, Mary D.;
    • Jacques, Thomas S.;
    • Bhate, Sanjay;
    • Cronin, Anthony;
    • Curran, Andrew;
    • Desurkar, Archana;
    • Farrell, Michael A.;
    • Hughes, Elaine;
    • Jefferson, Rosalind;
    • Lascelles, Karine;
    • Livingston, John;
    • Meyer, Esther;
    • McLellan, Ailsa;
    • Poduri, Annapurna;
    • Scheffer, Ingrid E.;
    • Spinty, Stefan
    Publication type:
    Article
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