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Material Type: Artigo
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The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteinsDreser, Alice ; Vollrath, Jan Tilmann ; Sechi, Antonio ; Johann, Sonja ; Roos, Andreas ; Yamoah, Alfred ; Katona, Istvan ; Bohlega, Saeed ; Wiemuth, Dominik ; Tian, Yuemin ; Schmidt, Axel ; Vervoorts, Jörg ; Dohmen, Marc ; Beyer, Cordian ; Anink, Jasper ; Aronica, Eleonora ; Troost, Dirk ; Weis, Joachim ; Goswami, AnandCell death and differentiation, 2017-10, Vol.24 (10), p.1655-1671 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Parkinson's Disease in Saudi Patients: A Genetic StudyAl-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 ScienceTexto completo disponível |
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Material Type: Artigo
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegiaWakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas MBMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Intervening to reduce the risk of future disability from multiple sclerosis: are we there yet?Dahdaleh, Maurice ; Alroughani, Raed ; Aljumah, Mohammed ; AlTahan, Abdulrahman ; Alsharoqi, Issa ; Bohlega, Saeed A ; Daif, Abdulkader ; Deleu, Dirk ; Inshasi, Jihad ; Karabudak, Rana ; Sahraian, Mohammed A. ; Taha, Karim ; Yammout, Bassem I. ; Zakaria, MagdInternational journal of neuroscience, 2017-10, Vol.127 (10), p.944-951 [Periódico revisado por pares]England: Taylor & FrancisTexto completo disponível |
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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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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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Material Type: Artigo
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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B GeneWakil, Salma M. ; Monies, Dorota ; Hagos, Samya ; Al-Ajlan, Fahad ; Finsterer, Josef ; Al Qahtani, Aisha ; Ramzan, Khushnooda ; Al Humaidy, Rawan ; Al-Muhaizea, Mohamed A. ; Meyer, Brian ; Bohlega, Saeed A. Paracchini, SilviaCase reports in genetics, 2018, Vol.2018, p.9468049-5 [Periódico revisado por pares]United States: HindawiTexto completo disponível |
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Material Type: Artigo
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Expert opinion on clinical experience with subcutaneous interferon beta‐1a in multiple sclerosis patients with different disease activity profilesBohlega, Saeed ; Alroughani, Raed ; Alkhawajah, Mona ; Alsaadi, Taoufik ; Daif, Abdulkader ; Elalamy, Osama R. ; Inshasi, Jihad S. ; Noori, Suzan ; Shakra, Mustafa ; Shatila, Ahmed O. ; Boghdady, Ahmed El ; Boshra, AmirNeurology and clinical neuroscience, 2019-09, Vol.7 (5), p.260-266 [Periódico revisado por pares]Tokyo: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Characteristics of multiple sclerosis in the Middle East with special reference to the applicability of international guidelines to the regionAl Tahan, Abdulrahman M. ; Alsharoqi, Isa ; Bohlega, Saeed A. ; Dahdaleh, Maurice ; Daif, Abdulkader ; Deleu, Dirk ; Esmat, Khaled ; Giampaolo, Dominic ; Freedman, Mark S. ; Gwilt, Michael ; Hosny, Hassan ; Inshasi, Jihad S. ; Aljumah, Mohammed ; Khalifa, Ahmad ; Pakdaman, Hossein ; Szólics, Miklós ; Yamout, Bassem I. ; Sahraian, Mohammed A. ; Zakaria, Magd F.International journal of neuroscience, 2014-09, Vol.124 (9), p.635-641 [Periódico revisado por pares]England: Informa HealthcareTexto completo disponível |
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Material Type: Artigo
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Natalizumab treatment for multiple sclerosis: Middle East and North Africa regional recommendations for patient selection and monitoringAlroughani, Raed A ; Aref, Hany M ; Bohlega, Saeed A ; Dahdaleh, Maurice P ; Feki, Imed ; Al Jumah, Mohammed A ; Al-Kawi, Muhammad Z ; Koussa, Salam F ; Sahraian, Mohamad A ; Alsharoqi, Isa A ; Yamout, Bassem IBMC neurology, 2014-02, Vol.14 (1), p.27-27, Article 27 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |