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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Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?Khouj, Ebtissal ; Bohlega, Saeed ; Alkuraya, Fowzan S.Clinical genetics, 2023-01, Vol.103 (1), p.125-126 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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4 |
Material Type: Artigo
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Unilateral pallidotomy for hemidystoniaAlkhani, Ahmed ; Bohlega, SaeedMovement disorders, 2006-06, Vol.21 (6), p.852-855 [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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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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6 |
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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7 |
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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8 |
Material Type: Artigo
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Autosomal-recessive syndrome with alopecia, hypadism, 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]Texto completo disponível |
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9 |
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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10 |
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 |