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1 |
Material Type: Artigo
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A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosisAl-Saif, Amr ; Al-Mohanna, Futwan ; Bohlega, SaeedAnnals of neurology, 2011-12, Vol.70 (6), p.913-919 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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2 |
Material Type: Artigo
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Loss of ERLIN2 function leads to juvenile primary lateral sclerosisAl-Saif, Amr ; Bohlega, Saeed ; Al-Mohanna, FutwanAnnals of neurology, 2012-10, Vol.72 (4), p.510-516 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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3 |
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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4 |
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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5 |
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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6 |
Material Type: Artigo
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LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutationBOHLEGA, SAEED A. ; ALFAWAZ, SARAH ; ABOU-AL-SHAAR, HUSSAM ; AL-HINDI, HINDI N. ; MURAD, HATEM N. ; BOHLEGA, MOHAMED S. ; MEYER, BRIAN F. ; MONIES, DOROTAActa myologica, 2018-09, Vol.37 (3), p.221-226 [Periódico revisado por pares]Pacini Editore srlTexto completo disponível |
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7 |
Material Type: Artigo
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi familiesBohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada ABMC research notes, 2016-06, Vol.9 (1), p.295-295, Article 295 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Levodopa-Carbidopa Intestinal Gel Infusion Therapy in Advanced Parkinson's Disease: Single Middle Eastern Center ExperienceBohlega, Saeed ; Abou Al-Shaar, Hussam ; Alkhairallah, Thamer ; Al-Ajlan, Fahad ; Hasan, Nael ; Alkahtani, KhalidEuropean neurology, 2015-01, Vol.74 (5-6), p.227-236 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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9 |
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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10 |
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 |