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1 |
Material Type: Artigo
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The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxiaLORENZETTI, D ; BOHLEGA, S ; ZOGHBI, H. YNeurology, 1997-10, Vol.49 (4), p.1009-1013 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsSem texto completo |
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2 |
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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3 |
Material Type: Artigo
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A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxiaAl Tassan, Nada ; Khalil, Dania ; Shinwari, Jameela ; Al Sharif, Latifa ; Bavi, Prashant ; Abduljaleel, Zainularifeen ; Abu Dhaim, Nada ; Magrashi, Amna ; Bobis, Steve ; Ahmed, Hala ; AlAhmed, Samaher ; Bohlega, SaeedHuman mutation, 2012-02, Vol.33 (2), p.351-354 [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 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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5 |
Material Type: Artigo
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Neurological complications in liver transplantationGHAUS, Naveed ; BOHLEGA, Saeed ; REZEIG, MohammedJournal of neurology, 2001-12, Vol.248 (12), p.1042-1048 [Periódico revisado por pares]Berlin: SpringerTexto completo disponível |
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6 |
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 |
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Material Type: Artigo
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Cerebral manifestation of Erdheim-Chester disease : Clinical and radiologic findingsBOHLEGA, S ; ALWATBAN, J ; TULBAH, A ; BAKHEET, S. M ; POWE, JNeurology, 1997-12, Vol.49 (6), p.1702-1705 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsSem texto completo |
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8 |
Material Type: Artigo
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Neuroacanthocytosis and aprebetalipoproteinemiaBOHLEGA, S ; RILEY, W ; POWE, J ; BAYNTON, R ; ROBERTS, GNeurology, 1998-06, Vol.50 (6), p.1912-1914 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsSem texto completo |
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9 |
Material Type: Artigo
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MRI findings in neuro-Behçet's diseaseZUHEIR AL KAWI, M ; BOHLEGA, S ; BANNA, MNeurology, 1991-03, Vol.41 (3), p.405-408 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsSem texto completo |
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10 |
Material Type: Artigo
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Multiphasic disseminated encephalomyelitis presenting as alternating hemiplegiaKhan, S ; Yaqub, B A ; Poser, C M ; al Deeb, S M ; Bohlega, SJournal of neurology, neurosurgery and psychiatry, 1995-04, Vol.58 (4), p.467-470 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |