Works matching IS 00068950 AND DT 2014 AND VI 137 AND IP 5


Results: 48
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    PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

    Published in:
    2014
    By:
    • Wong, Tsz Hang;
    • Chiu, Wang Zheng;
    • Breedveld, Guido J;
    • Li, Ka Wan;
    • Verkerk, Annemieke J M H;
    • Hondius, David;
    • Hukema, Renate K;
    • Seelaar, Harro;
    • Frick, Petra;
    • Severijnen, Lies-Anne;
    • Lammers, Gert-Jan;
    • Lebbink, Joyce H G;
    • van Duinen, Sjoerd G;
    • Kamphorst, Wouter;
    • Rozemuller, Annemieke J;
    • Bakker, E Bert;
    • Neumann, Manuela;
    • Willemsen, Rob;
    • Bonifati, Vincenzo;
    • Smit, August B
    Publication type:
    journal article
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    Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1350, doi. 10.1093/brain/awu051
    By:
    • Mills, Philippa B.;
    • Camuzeaux, Stephane S.M.;
    • Footitt, Emma J.;
    • Mills, Kevin A.;
    • Gissen, Paul;
    • Fisher, Laura;
    • Das, Krishna B.;
    • Varadkar, Sophia M.;
    • Zuberi, Sameer;
    • McWilliam, Robert;
    • Stödberg, Tommy;
    • Plecko, Barbara;
    • Baumgartner, Matthias R.;
    • Maier, Oliver;
    • Calvert, Sophie;
    • Riney, Kate;
    • Wolf, Nicole I.;
    • Livingston, John H.;
    • Bala, Pronab;
    • Morel, Chantal F.
    Publication type:
    Article
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    Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060
    By:
    • Pfeffer, Gerald;
    • Gorman, Gráinne S;
    • Griffin, Helen;
    • Kurzawa-Akanbi, Marzena;
    • Blakely, Emma L.;
    • Wilson, Ian;
    • Sitarz, Kamil;
    • Moore, David;
    • Murphy, Julie L.;
    • Alston, Charlotte L.;
    • Pyle, Angela;
    • Coxhead, Jon;
    • Payne, Brendan;
    • Gorrie, George H.;
    • Longman, Cheryl;
    • Hadjivassiliou, Marios;
    • McConville, John;
    • Dick, David;
    • Imam, Ibrahim;
    • Hilton, David
    Publication type:
    Article
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    Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer’s disease.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1533, doi. 10.1093/brain/awu046
    By:
    • Shinohara, Mitsuru;
    • Fujioka, Shinsuke;
    • Murray, Melissa E.;
    • Wojtas, Aleksandra;
    • Baker, Matthew;
    • Rovelet-Lecrux, Anne;
    • Rademakers, Rosa;
    • Das, Pritam;
    • Parisi, Joseph E.;
    • Graff-Radford, Neill R.;
    • Petersen, Ronald C.;
    • Dickson, Dennis W.;
    • Bu, Guojun
    Publication type:
    Article
    41

    From The Archives.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1565, doi. 10.1093/brain/awu104
    By:
    • Compston, Alastair
    Publication type:
    Article
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    PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1361
    By:
    • Wong, Tsz Hang;
    • Chiu, Wang Zheng;
    • Breedveld, Guido J.;
    • Li, Ka Wan;
    • Verkerk, Annemieke J. M. H.;
    • Hondius, David;
    • Hukema, Renate K.;
    • Seelaar, Harro;
    • Frick, Petra;
    • Severijnen, Lies-Anne;
    • Lammers, Gert-Jan;
    • Lebbink, Joyce H. G.;
    • van Duinen, Sjoerd G.;
    • Kamphorst, Wouter;
    • Rozemuller, Annemieke J.;
    • Bakker, E. Bert;
    • Neumann, Manuela;
    • Willemsen, Rob;
    • Bonifati, Vincenzo;
    • Smit, August B.
    Publication type:
    Article
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    Editorial.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1273, doi. 10.1093/brain/awu081
    By:
    • Kullmann, Dimitri M
    Publication type:
    Article
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    Corrigendum.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. e278, doi. 10.1093/brain/awu053
    Publication type:
    Article
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