Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophyBrown, 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 JNature genetics, 1998-09, Vol.20 (1), p.31-36 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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Neurological complications in liver transplantationGHAUS, Naveed ; BOHLEGA, Saeed ; REZEIG, MohammedJournal of neurology, 2001-12, Vol.248 (12), p.1042-1048 [Periódico revisado por pares]Berlin: SpringerTexto completo disponível |
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3 |
Material Type: Artigo
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Mutations in NHLRC1 cause progressive myoclonus epilepsyMinassian, 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 VNature genetics, 2003-10, Vol.35 (2), p.125-127 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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Integrating an evidence-based assessment of benefit and risk in disease-modifying treatment of multiple sclerosisGoodin, Douglas S. ; Biermann, Louis D. ; Bohlega, Saeed ; Boiko, Alexey ; Chofflon, Michel ; Gebeily, Souheil ; Gouider, Riadh ; Havrdova, Eva ; Jakab, Gabor ; Karabudak, Rana ; Karussis, Dimitrios ; Miller, Ariel ; Pakdaman, Hossein ; Selmaj, Krzysztof ; Sharief, MohammadCurrent medical research and opinion, 2007-11, Vol.23 (11), p.2823-2832 [Periódico revisado por pares]England: Informa UK LtdTexto completo disponível |
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5 |
Material Type: Artigo
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CADASIL in Arabs: clinical and genetic findingsBohlega, Saeed ; Al Shubili, Asmahan ; Edris, Abdulrahman ; Alreshaid, Abdulrahman ; Alkhairallah, Thamer ; AlSous, M Walid ; Farah, Samir ; Abu-Amero, Khaled KBMC medical genetics, 2007-11, Vol.8 (1), p.67-67, Article 67 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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6 |
Material Type: Artigo
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Absence of mtDNA mutations in leukocytes of CADASIL patientsAbu-Amero, Khaled K ; Hellani, Ali ; Bohlega, SaeedBMC research notes, 2008-05, Vol.1 (1), p.16-16 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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7 |
Material Type: Artigo
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A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case reportAbu-Amero, Khaled K ; Al-Dhalaan, Hesham ; Bohlega, Saeed ; Hellani, Ali ; Taylor, Robert WJournal of medical case reports, 2009-10, Vol.3 (1), p.77-77, Article 77 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi ArabiaBohlega, Saeed A ; Shinwari, Jameela M ; Al Sharif, Latifa J ; Khalil, Dania S ; Alkhairallah, Thamer S ; Al Tassan, Nada ABMC medical genetics, 2011-02, Vol.12 (1), p.27-27, Article 27 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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9 |
Material Type: Artigo
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Novel mutation of the NOTCH3 gene in Arabic family with CADASILBohlega, SaeedNeurology international, 2011-04, Vol.3 (1) [Periódico revisado por pares]Texto completo disponível |
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10 |
Material Type: Artigo
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Novel mutation of the notch3 gene in arabic family with CADASILBohlega, SaeedNeurology international, 2011-07, Vol.3 (2), p.e6-e6 [Periódico revisado por pares]Italy: MDPI AGTexto completo disponível |