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Refinado por: assunto: Medical Sciences remover Base de dados/Biblioteca: Gale Academic OneFile Select remover
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1
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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2
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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3
Multiphasic disseminated encephalomyelitis presenting as alternating hemiplegia
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Artigo
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Multiphasic disseminated encephalomyelitis presenting as alternating hemiplegia

Khan, S ; Yaqub, B A ; Poser, C M ; al Deeb, S M ; Bohlega, S

Journal of neurology, neurosurgery and psychiatry, 1995-04, Vol.58 (4), p.467-470 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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