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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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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Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 MutationAlqwaifly, Mohammed ; Bohlega, SaeedNeurology international, 2016-06, Vol.8 (2), p.6444-6444 [Periódico revisado por pares]Italy: MDPI AGTexto completo disponível |
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4 |
Material Type: Artigo
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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disordersBohlega, Saeed A. ; Abou-Al-Shaar, Hussam ; AlDakheel, Amaal ; Alajlan, Huda ; Bohlega, Balsam S. ; Meyer, Brian F. ; Monies, Dorota ; Cupler, Edward J. ; Al-Saif, Amr M.Parkinsonism & related disorders, 2019-07, Vol.64, p.145-149 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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5 |
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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6 |
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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7 |
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 |
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8 |
Material Type: Artigo
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Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi ArabiaAlharbi, Norah ; Matar, Rawan ; Cupler, Edward ; Al-Hindi, Hindi ; Murad, Hatem ; Alhomud, Iftteah ; Monies, Dorota ; Alshehri, Ali ; Alyahya, Mossaed ; Meyer, Brian ; Bohlega, SaeedFrontiers in neuroscience, 2022-02, Vol.16, p.815556-815556 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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9 |
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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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 |