Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Olimpia Musumeci"'
Autor:
Joanna Stewart, Alan F. Wright, Mark R. Baker, P. Duffey, Patrick F. Chinnery, Birgit Czermin, Pascal Reynier, Patrizia Amati-Bonneau, Grainne S. Gorman, Dominique Bonneau, Douglass M. Turnbull, James Miller, Gavin Hudson, Costanza Lamperti, Baljean Dhillon, Michaela Auer-Grumbach, Margaret Jackson, Patrick Yu-Wai-Man, Michael P. Clarke, Charles Marques Lourenço, Marcela Votruba, Maria Lucia Valentino, Wilson Marques, Laurence A. Bindoff, Massimo Zeviani, Antonio Toscano, Chantal M. E. Tallaksen, Rita Horvath, Guy Lenaers, Robert McFarland, Roger G. Whittaker, Philip G. Griffiths, Leonardo Caporali, Olimpia Musumeci, Valerio Carelli, Robert W. Taylor
Publikováno v:
Yu-Wai-Man, P, Griffiths, P G, Gorman, G S, Lourenco, C M, Wright, A, 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 2010, ' Multi-system neurological disease is common in patients with OPA1 mutations ', Brain, vol. 133, pp. 771-786 . https://doi.org/10.1093/brain/awq007
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2010, 133 (3), pp.771-786. ⟨10.1093/brain/awq007⟩
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2010, 133 (3), pp.771-786. ⟨10.1093/brain/awq007⟩
International audience; Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c4e2c40b79916278ce0c7faf4a43e2b
http://hdl.handle.net/11577/3354278
http://hdl.handle.net/11577/3354278