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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Riboflavin Has Neuroprotective Potential: Focus on Parkinson's Disease and MigraineMarashly, Eyad T ; Bohlega, Saeed AFrontiers in neurology, 2017-07, Vol.8, p.333-333 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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3 |
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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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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Consensus guidelines for botulinum toxin therapy: general algorithms and dosing tables for dystonia and spasticityDressler, Dirk ; Altavista, Maria Concetta ; Altenmueller, Eckart ; Bhidayasiri, Roongroj ; Bohlega, Saeed ; Chana, Pedro ; Chung, Tae Mo ; Colosimo, Carlo ; Fheodoroff, Klemens ; Garcia-Ruiz, Pedro J. ; Jeon, Beomseok ; Jin, Lingjing ; Kanovsky, Petr ; Milanov, Ivan ; Micheli, Federico ; Orlova, Olga ; Pandey, Sanjay ; Pirtosek, Zvezdan ; Relja, Maja ; Rosales, Raymond ; Sagástegui-Rodríguez, José Alberto ; Shahidi, Gholam Ali ; Timerbaeva, Sofia ; Wan, Xinhua ; Walter, Uwe ; Saberi, Fereshte AdibJournal of Neural Transmission, 2021-03, Vol.128 (3), p.321-335 [Periódico revisado por pares]Vienna: Springer ViennaTexto completo disponível |
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7 |
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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8 |
Material Type: Artigo
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A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathiesMonies, Dorota ; Alhindi, Hindi N ; Almuhaizea, Mohamed A ; Abouelhoda, Mohamed ; Alazami, Anas M ; Goljan, Ewa ; Alyounes, Banan ; Jaroudi, Dyala ; AlIssa, Abdulelah ; Alabdulrahman, Khalid ; Subhani, Shazia ; El-Kalioby, Mohamed ; Faquih, Tariq ; Wakil, Salma M ; Altassan, Nada A ; Meyer, Brian F ; Bohlega, SaeedHuman Genomics, 2016-09, Vol.10 (1), p.32-32, Article 32 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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9 |
Material Type: Artigo
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndromeMonies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, SaeedNeuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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10 |
Material Type: Artigo
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A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi familyWakil, Salma M ; Bohlega, Saeed ; Hagos, Samya ; Baz, Batoul ; Al Dossari, Haya ; Ramzan, Khushnooda ; Al-Hassnan, Zuhair NEuropean journal of medical genetics, 2013-01, Vol.56 (1), p.43-45 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |