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Refinado por: Base de dados/Biblioteca: Academic Search Premier remover assunto: Neurology remover
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1
Parkinson's Disease in Saudi Patients: A Genetic Study
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Artigo
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Parkinson's Disease in Saudi Patients: A Genetic Study

Al-Mubarak, Bashayer R ; Bohlega, Saeed A ; Alkhairallah, Thamer S ; Magrashi, Amna I ; AlTurki, Maha I ; Khalil, Dania S ; AlAbdulaziz, Basma S ; Abou Al-Shaar, Hussam ; Mustafa, Abeer E ; Alyemni, Eman A ; Alsaffar, Bashayer A ; Tahir, Asma I ; Al Tassan, Nada A Cookson, Mark R.

PloS one, 2015-08, Vol.10 (8), p.e0135950-e0135950 [Periódico revisado por pares]

United States: Public Library of Science

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2
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
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Artigo
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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Brown, Robert H ; Liu, Jing ; Aoki, Masashi ; Illa, Isabel ; Wu, Chenyan ; Fardeau, Michel ; Angelini, Corrado ; Serrano, Carmen ; Urtizberea, J. Andoni ; Hentati, Faycal ; Hamida, Mongi Ben ; Bohlega, Saeed ; Culper, Edward J ; Amato, Anthony A ; Bossie, Karen ; Oeltjen, Joshua ; Bejaoui, Khemissa ; McKenna-Yasek, Diane ; Hosler, Betsy A ; Schurr, Erwin ; Arahata, Kiichi ; de Jong, Pieter J

Nature genetics, 1998-09, Vol.20 (1), p.31-36 [Periódico revisado por pares]

London: Nature Publishing Group

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3
Mutations in NHLRC1 cause progressive myoclonus epilepsy
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Artigo
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Mutations in NHLRC1 cause progressive myoclonus epilepsy

Minassian, Berge A ; Scherer, Stephen W ; Chan, Elayne M ; Young, Edwin J ; Ianzano, Leonarda ; Munteanu, Iulia ; Zhao, Xiaochu ; Christopoulos, Constantine C ; Avanzini, Giuliano ; Elia, Maurizio ; Ackerley, Cameron A ; Jovic, Nebojsa J ; Bohlega, Saeed ; Andermann, Eva ; Rouleau, Guy A ; Delgado-Escueta, Antonio V

Nature genetics, 2003-10, Vol.35 (2), p.125-127 [Periódico revisado por pares]

London: Nature Publishing Group

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4
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
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Artigo
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Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Dobson-Stone, C ; Danek, A ; Rampoldi, L ; Hardie, R J ; Chalmers, R M ; Wood, N W ; Bohlega, S ; Dotti, M T ; Federico, A ; Shizuka, M ; Tanaka, M ; Watanabe, M ; Ikeda, Y ; Brin, M ; Goldfarb, L G ; Karp, B I ; Mohiddin, S ; Fananapazir, L ; Storch, A ; Fryer, A E ; Maddison, P ; Sibon, I ; Trevisol-Bittencourt, P C ; Singer, C ; Caballero, I R ; Aasly, J O ; Schmierer, K ; Dengler, R ; Hiersemenzel, L-P ; Zeviani, M ; Meiner, V ; Lossos, A ; Johnson, S ; Mercado, F C ; Sorrentino, G ; Dupré, N ; Rouleau, G A ; Volkmann, J ; Arpa, J ; Lees, A ; Geraud, G ; Chouinard, S ; Németh, A ; Monaco, A P

European journal of human genetics : EJHG, 2002-11, Vol.10 (11), p.773-781 [Periódico revisado por pares]

England: Nature Publishing Group

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