Works matching IS 03645134 AND DT 2013 AND VI 74

Results: 151
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    Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 914, doi. 10.1002/ana.23963
    By:
    • Nilsson, Johanna;
    • Schoser, Benedikt;
    • Laforet, Pascal;
    • Kalev, Ognian;
    • Lindberg, Christopher;
    • Romero, Norma B.;
    • Dávila López, Marcela;
    • Akman, Hasan O.;
    • Wahbi, Karim;
    • Iglseder, Stephan;
    • Eggers, Christian;
    • Engel, Andrew G.;
    • DiMauro, Salvatore;
    • Oldfors, Anders
    Publication type:
    Article
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    Predicting Alzheimer disease with β-amyloid imaging: results from the Australian imaging, biomarkers, and lifestyle study of ageing.

    Published in:
    2013
    By:
    • Rowe, Christopher C;
    • Bourgeat, Pierrick;
    • Ellis, Kathryn A;
    • Brown, Belinda;
    • Lim, Yen Ying;
    • Mulligan, Rachel;
    • Jones, Gareth;
    • Maruff, Paul;
    • Woodward, Michael;
    • Price, Roger;
    • Robins, Peter;
    • Tochon-Danguy, Henri;
    • O'Keefe, Graeme;
    • Pike, Kerryn E;
    • Yates, Paul;
    • Szoeke, Cassandra;
    • Salvado, Olivier;
    • Macaulay, S Lance;
    • O'Meara, Timothy;
    • Head, Richard
    Publication type:
    journal article
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    Mutations in γ adducin are associated with inherited cerebral palsy.

    Published in:
    2013
    By:
    • Kruer, Michael C;
    • Jepperson, Tyler;
    • Dutta, Sudeshna;
    • Steiner, Robert D;
    • Cottenie, Ellen;
    • Sanford, Lynn;
    • Merkens, Mark;
    • Russman, Barry S;
    • Blasco, Peter A;
    • Fan, Guang;
    • Pollock, Jeffrey;
    • Green, Sarah;
    • Woltjer, Randall L;
    • Mooney, Catherine;
    • Kretzschmar, Doris;
    • Paisán-Ruiz, Coro;
    • Houlden, Henry
    Publication type:
    journal article
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    Predicting Alzheimer disease with β-amyloid imaging: Results from the Australian imaging, biomarkers, and lifestyle study of ageing.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 905, doi. 10.1002/ana.24040
    By:
    • Rowe, Christopher C.;
    • Bourgeat, Pierrick;
    • Ellis, Kathryn A.;
    • Brown, Belinda;
    • Lim, Yen Ying;
    • Mulligan, Rachel;
    • Jones, Gareth;
    • Maruff, Paul;
    • Woodward, Michael;
    • Price, Roger;
    • Robins, Peter;
    • Tochon‐Danguy, Henri;
    • O'Keefe, Graeme;
    • Pike, Kerryn E.;
    • Yates, Paul;
    • Szoeke, Cassandra;
    • Salvado, Olivier;
    • Macaulay, S. Lance;
    • O'Meara, Timothy;
    • Head, Richard
    Publication type:
    Article
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    Quo vadis? - peering into the future.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. A5, doi. 10.1002/ana.24091
    By:
    • Hauser, Stephen L.;
    • Johnston, S. Claiborne;
    • Ferriero, Donna M.;
    • Josephson, S. Andrew;
    • Lowenstein, Daniel H.;
    • Messing, Robert O.;
    • Oksenberg, Jorge R.
    Publication type:
    Article
    10

    SLC25A22 is a novel gene for migrating partial seizures in infancy.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 873, doi. 10.1002/ana.23998
    By:
    • Poduri, Annapurna;
    • Heinzen, Erin L.;
    • Chitsazzadeh, Vida;
    • Lasorsa, Francesco Massimo;
    • Elhosary, P. Christina;
    • LaCoursiere, Christopher M.;
    • Martin, Emilie;
    • Yuskaitis, Christopher J.;
    • Hill, Robert Sean;
    • Atabay, Kutay Deniz;
    • Barry, Brenda;
    • Partlow, Jennifer N.;
    • Bashiri, Fahad A.;
    • Zeidan, Radwan M.;
    • Elmalik, Salah A.;
    • Kabiraj, Mohammad M. U.;
    • Kothare, Sanjeev;
    • Stödberg, Tommy;
    • McTague, Amy;
    • Kurian, Manju A.
    Publication type:
    Article
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    Preserved white matter integrity is a marker of familial longevity.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 883, doi. 10.1002/ana.24003
    By:
    • Altmann‐Schneider, Irmhild;
    • Craen, Anton J. M.;
    • Veer, Ilya M.;
    • Berg‐Huysmans, Annette A.;
    • Slagboom, P. Eline;
    • Westendorp, Rudi G. J.;
    • Buchem, Mark A.;
    • Grond, Jeroen
    Publication type:
    Article
    13

    Mutations in gamma adducin are associated with inherited cerebral palsy.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 805, doi. 10.1002/ana.23971
    By:
    • Kruer, Michael C.;
    • Jepperson, Tyler;
    • Dutta, Sudeshna;
    • Steiner, Robert D.;
    • Cottenie, Ellen;
    • Sanford, Lynn;
    • Merkens, Mark;
    • Russman, Barry S.;
    • Blasco, Peter A.;
    • Fan, Guang;
    • Pollock, Jeffrey;
    • Green, Sarah;
    • Woltjer, Randall L.;
    • Mooney, Catherine;
    • Kretzschmar, Doris;
    • Paisán‐Ruiz, Coro;
    • Houlden, Henry
    Publication type:
    Article
    14

    December 2013.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. A11, doi. 10.1002/ana.24090
    Publication type:
    Article
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    Splicing biomarkers of disease severity in myotonic dystrophy.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 862, doi. 10.1002/ana.23992
    By:
    • Nakamori, Masayuki;
    • Sobczak, Krzysztof;
    • Puwanant, Araya;
    • Welle, Steve;
    • Eichinger, Katy;
    • Pandya, Shree;
    • Dekdebrun, Jeannne;
    • Heatwole, Chad R.;
    • McDermott, Michael P.;
    • Chen, Tian;
    • Cline, Melissa;
    • Tawil, Rabi;
    • Osborne, Robert J.;
    • Wheeler, Thurman M.;
    • Swanson, Maurice S.;
    • Moxley, Richard T.;
    • Thornton, Charles A.
    Publication type:
    Article
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    Neurological deficits caused by tissue hypoxia in neuroinflammatory disease.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 815, doi. 10.1002/ana.24006
    By:
    • Davies, Andrew L.;
    • Desai, Roshni A.;
    • Bloomfield, Peter S.;
    • McIntosh, Peter R.;
    • Chapple, Katie J.;
    • Linington, Christopher;
    • Fairless, Richard;
    • Diem, Ricarda;
    • Kasti, Marianne;
    • Murphy, Michael P.;
    • Smith, Kenneth J.
    Publication type:
    Article
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    TigarB causes mitochondrial dysfunction and neuronal loss in PINK1 deficiency.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 837, doi. 10.1002/ana.23999
    By:
    • Flinn, Laura J.;
    • Keatinge, Marcus;
    • Bretaud, Sandrine;
    • Mortiboys, Heather;
    • Matsui, Hideaki;
    • Felice, Elena;
    • Woodroof, Helen I.;
    • Brown, Lucy;
    • McTighe, Aimee;
    • Soellner, Rosemarie;
    • Allen, Claire E.;
    • Heath, Paul R.;
    • Milo, Marta;
    • Muqit, Miratul M. K.;
    • Reichert, Andreas S.;
    • Köster, Reinhard W.;
    • Ingham, Philip W.;
    • Bandmann, Oliver
    Publication type:
    Article
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    Have the Annals editors added value?

    Published in:
    Annals of Neurology, 2013, v. 74, n. 5, p. A7, doi. 10.1002/ana.24077
    By:
    • Johnston, S. Claiborne;
    • Ferriero, Donna M.;
    • Josephson, S. Andrew;
    • Lowenstein, Daniel H.;
    • Messing, Robert O.;
    • Oksenberg, Jorge;
    • Stewart, Adam;
    • Hauser, Stephen L.
    Publication type:
    Article
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    Eteplirsen for the treatment of Duchenne muscular dystrophy.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 5, p. 637, doi. 10.1002/ana.23982
    By:
    • Mendell, Jerry R.;
    • Rodino‐Klapac, Louise R.;
    • Sahenk, Zarife;
    • Roush, Kandice;
    • Bird, Loren;
    • Lowes, Linda P.;
    • Alfano, Lindsay;
    • Gomez, Ann Maria;
    • Lewis, Sarah;
    • Kota, Janaiah;
    • Malik, Vinod;
    • Shontz, Kim;
    • Walker, Christopher M.;
    • Flanigan, Kevin M.;
    • Corridore, Marco;
    • Kean, John R.;
    • Allen, Hugh D.;
    • Shilling, Chris;
    • Melia, Kathleen R.;
    • Sazani, Peter
    Publication type:
    Article
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    November 2013.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 5, p. A12, doi. 10.1002/ana.24076
    Publication type:
    Article
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    Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 3, p. 496, doi. 10.1002/ana.23934
    By:
    • Hitomi, Yuki;
    • Heinzen, Erin L.;
    • Donatello, Simona;
    • Dahl, Hans‐Henrik;
    • Damiano, John A.;
    • McMahon, Jacinta M.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Legros, Benjamin;
    • Rai, Myriam;
    • Weckhuysen, Sarah;
    • Suls, Arvid;
    • Jonghe, Peter;
    • Pandolfo, Massimo;
    • Goldstein, David B.;
    • Bogaert, Patrick;
    • Depondt, Chantal
    Publication type:
    Article
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