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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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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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Material Type: Artigo
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Hypogonadism, alopecia and neurological manifestations: evolving syndromes from an old association. (P4.9-060)Abusrair, Ali ; Bohlega, SaeedNeurology, 2019-04, Vol.92 (15_supplement) [Periódico revisado por pares]Texto completo disponível |
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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 CentralTexto completo disponível |
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Material Type: Artigo
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Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders (S42.004)Bohlega, Saeed ; Al-Qahtani, Zainah ; Guzmán-Vega, Francisco J. ; Ramakrishnan, Reshmi ; Abusrair, Ali ; Aldosari, Haya ; AlDakheel, Amaal ; Al-Qahtani, Salma ; Monies, Dorota ; Arold, StefanNeurology, 2023-04, Vol.100 (17_supplement_2) [Periódico revisado por pares]Texto 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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Identification of a novel genetic locus underlying tremor and dystoniaMonies, Dorota ; Abou Al-Shaar, Hussam ; Goljan, Ewa A ; Al-Younes, Banan ; Al-Breacan, Muna Monther Abdullah ; Al-Saif, Maher Mohammed ; Wakil, Salma M ; Meyer, Brian F ; Khabar, Khalid S A ; Bohlega, SaeedHuman genomics, 2017-11, Vol.11 (1), p.25-25, Article 25 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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Material Type: Artigo
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Brain MRI findings in Woodhouse-Sakati Syndrome (P6.071)Abusrair, Ali ; Bohlega, Saeed ; Al-Ajlan, Fahad ; Al-Semari, Abdulaziz ; Mohamed, Bader ; AlDakheel, AmaalNeurology, 2018-04, Vol.90 (15_supplement) [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3Alazami, Anas M ; Alzahrani, Fatema ; Bohlega, Saeed ; Alkuraya, Fowzan SNeurology, 2014-05, Vol.82 (18), p.1665-1666 [Periódico revisado por pares]United States: American Academy of NeurologyTexto completo disponível |
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10 |
Material Type: Artigo
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Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia (P2.206)Al-Faidi, Nouf ; Ali, Qurban ; Al Said, Youssef ; Karim, Gulzar ; Khan, Haji ; Bohlega, Saeed ; Cupler, EdwardNeurology, 2017-04, Vol.88 (16_supplement) [Periódico revisado por pares]Texto completo disponível |