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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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Cyclosporine-induced migraine with severe vomiting causing loss of renal graftMaghrabi, Khalid ; Bohlega, SaeedClinical neurology and neurosurgery, 1998-09, Vol.100 (3), p.224-227 [Periódico revisado por pares]Amsterdam: Elsevier B.VTexto completo disponível |
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4 |
Material Type: Artigo
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Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsulaBohlega, Saeed ; Al-Jishi, Adel ; Dobson-Stone, Carol ; Rampoldi, Luca ; Saha, Parthasarathi ; Murad, Hatem ; Kareem, Abid ; Roberts, George ; Monaco, Anthony P.Movement disorders, 2003-04, Vol.18 (4), p.403-407 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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5 |
Material Type: Artigo
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Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1Al-Semari, Abdulaziz ; Bohlega, SaeedAmerican journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.149-160 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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6 |
Material Type: Artigo
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Mutations in NHLRC1 cause progressive myoclonus epilepsyMinassian, Berge A ; Scherer, Stephen W ; Chan, Elayne M ; Young, Edwin J ; Ianzano, Leonarda ; Munteanu, Iulia ; Zhao, Xiaochu ; Christopoulos, Constantine C ; Avanzini, Giuliano ; Elia, Maurizio ; Ackerley, Cameron A ; Jovic, Nebojsa J ; Bohlega, Saeed ; Andermann, Eva ; Rouleau, Guy A ; Delgado-Escueta, Antonio VNature genetics, 2003-10, Vol.35 (2), p.125-127 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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7 |
Material Type: Artigo
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Neurobrucellosis: Clinical and neuroimaging correlationAL-SOUS, M. Walid ; BOHLEGA, Saeed ; AL-KAWI, M. Zuheir ; ALWATBAN, Jehad ; MCLEAN, Donald RAmerican journal of neuroradiology : AJNR, 2004-03, Vol.25 (3), p.395-401 [Periódico revisado por pares]Oak Brook, IL: American Society of NeuroradiologyTexto completo disponível |
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8 |
Material Type: Artigo
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Myelopathy after intrathecal chemotherapy. A case report with unique magnetic resonance imaging changesMcLean, Donald R. ; Clink, Hugh M. ; Ernst, Peter ; Coates, Robert ; Zuheir Al Kawi, M. ; Bohlega, Saeed ; Omer, SalahCancer, 1994-06, Vol.73 (12), p.3037-3040 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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9 |
Material Type: Artigo
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Neurodegenerative Huntington-like disorderBohlega, Saeed ; Al-Tahan, Abdulrahman ; Kambouris, Marios ; Divakaran, MadaiMovement disorders, 2001-05, Vol.16 (3), p.533-534 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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10 |
Material Type: Artigo
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Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotypeGanesh, Subramaniam ; Delgado-Escueta, Antonio V. ; Suzuki, Toshimitsu ; Francheschetti, Silvana ; Riggio, Concetta ; Avanzini, Giuiliano ; Rabinowicz, Adrian ; Bohlega, Saeed ; Bailey, Julia ; Alonso, Maria E. ; Rasmussen, Astrid ; Thomson, Alfredo E. ; Ochoa, Adriana ; Prado, Aurelio J. ; Medina, Marco T. ; Yamakawa, KazuhiroHuman molecular genetics, 2002-05, Vol.11 (11), p.1263-1271 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |