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Material Type: Artigo
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The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlationsOzawa, Tetsutaro ; Paviour, Dominic ; Quinn, Niall P. ; Josephs, Keith A. ; Sangha, Hardev ; Kilford, Linda ; Healy, Daniel G. ; Wood, Nick W. ; Lees, Andrew J. ; Holton, Janice L. ; Revesz, TamasBrain (London, England : 1878), 2004-12, Vol.127 (12), p.2657-2671 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Clinical features and autonomic testing predict survival in multiple system atrophyCoon, Elizabeth A ; Sletten, David M ; Suarez, Mariana D ; Mandrekar, Jay N ; Ahlskog, J Eric ; Bower, James H ; Matsumoto, Joseph Y ; Silber, Michael H ; Benarroch, Eduardo E ; Fealey, Robert D ; Sandroni, Paola ; Low, Phillip A ; Singer, WolfgangBrain (London, England : 1878), 2015-12, Vol.138 (Pt 12), p.3623-3631 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophyHabets, Laura E ; Bartels, Bart ; Asselman, Fay-Lynn ; Hooijmans, Melissa T ; van den Berg, Sandra ; Nederveen, Aart J ; van der Pol, W Ludo ; Jeneson, Jeroen A LBrain (London, England : 1878), 2022-05, Vol.145 (4), p.1422-1435 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Improving diagnostic accuracy of multiple system atrophy: a clinicopathological studyMiki, Yasuo ; Foti, Sandrine C ; Asi, Yasmine T ; Tsushima, Eiki ; Quinn, Niall ; Ling, Helen ; Holton, Janice LBrain (London, England : 1878), 2019-09, Vol.142 (9), p.2813-2827 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probandsRocatcher, Aude ; Desquiret-Dumas, Valérie ; Charif, Majida ; Ferré, Marc ; Gohier, Philippe ; Mirebeau-Prunier, Delphine ; Verny, Christophe ; Milea, Dan ; Lenaers, Guy ; Bonneau, Dominique ; Reynier, Pascal ; Amati-Bonneau, PatriziaBrain (London, England : 1878), 2023-02, Vol.146 (2), p.455-460 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Rossor, Alexander M ; Oates, Emily C ; Salter, Hannah K ; Liu, Yang ; Murphy, Sinead M ; Schule, Rebecca ; Gonzalez, Michael A ; Scoto, Mariacristina ; Phadke, Rahul ; Sewry, Caroline A ; Houlden, Henry ; Jordanova, Albena ; Tournev, Iyailo ; Chamova, Teodora ; Litvinenko, Ivan ; Zuchner, Stephan ; Herrmann, David N ; Blake, Julian ; Sowden, Janet E ; Acsadi, Gyuda ; Rodriguez, Michael L ; Menezes, Manoj P ; Clarke, Nigel F ; Auer Grumbach, Michaela ; Bullock, Simon L ; Muntoni, Francesco ; Reilly, Mary M ; North, Kathryn NBrain (London, England : 1878), 2015-02, Vol.138 (Pt 2), p.293-310 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Multi-system neurological disease is common in patients with OPA1 mutationsYu-Wai-Man, P. ; Griffiths, P.G. ; Gorman, G.S. ; Lourenco, C.M. ; Wright, A.F. ; Auer-Grumbach, M. ; Toscano, A. ; Musumeci, O. ; Valentino, M.L. ; Caporali, L. ; Lamperti, C. ; Tallaksen, C.M. ; Duffey, P. ; Miller, J. ; Whittaker, R.G. ; Baker, M.R. ; Jackson, M.J. ; Clarke, M.P. ; Dhillon, B. ; Czermin, B. ; Stewart, J.D. ; Hudson, G. ; Reynier, P. ; Bonneau, D. ; Marques, W. ; Lenaers, G. ; McFarland, R. ; Taylor, R.W. ; Turnbull, D.M. ; Votruba, M. ; Zeviani, M. ; Carelli, V. ; Bindoff, L.A. ; Horvath, R. ; Amati-Bonneau, P. ; Chinnery, P.F.Brain (London, England : 1878), 2010-03, Vol.133 (3), p.771-786 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathyWilliams, Pete A. ; Morgan, James E. ; Votruba, MarcelaBrain (London, England : 1878), 2010-10, Vol.133 (10), p.2942-2951 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Early-onset Behr syndrome due to compound heterozygous mutations in OPA1Bonneau, Dominique ; Colin, Estelle ; Oca, Florine ; Ferré, Marc ; Chevrollier, Arnaud ; Guéguen, Naïg ; Desquiret-Dumas, Valérie ; N'Guyen, Sylvie ; Barth, Magalie ; Zanlonghi, Xavier ; Rio, Marlène ; Desguerre, Isabelle ; Barnerias, Christine ; Momtchilova, Marta ; Rodriguez, Diana ; Slama, Abdelhamid ; Lenaers, Guy ; Procaccio, Vincent ; Amati-Bonneau, Patrizia ; Reynier, PascalBrain (London, England : 1878), 2014-10, Vol.137 (Pt 10), p.e301-e301 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trialsStreet, Duncan ; Jabbari, Edwin ; Costantini, Alyssa ; Jones, P Simon ; Holland, Negin ; Rittman, Timothy ; Jensen, Marte T ; Chelban, Viorica ; Goh, Yen Y ; Guo, Tong ; Heslegrave, Amanda J ; Roncaroli, Federico ; Klein, Johannes C ; Ansorge, Olaf ; Allinson, Kieren S J ; Jaunmuktane, Zane ; Revesz, Tamas ; Warner, Thomas T ; Lees, Andrew J ; Zetterberg, Henrik ; Russell, Lucy L ; Bocchetta, Martina ; Rohrer, Jonathan D ; Burn, David J ; Pavese, Nicola ; Gerhard, Alexander ; Kobylecki, Christopher ; Leigh, P Nigel ; Church, Alistair ; Hu, Michele T M ; Houlden, Henry ; Morris, Huw ; Rowe, James BBrain (London, England : 1878), 2023-08, Vol.146 (8), p.3232-3242 [Periódico revisado por pares]US: Oxford University PressTexto completo disponível |