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1 |
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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2 |
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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3 |
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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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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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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6 |
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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7 |
Material Type: Artigo
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Dissecting the Phenotype and Genotype of PLA2G6‐Related ParkinsonismMagrinelli, Francesca ; Mehta, Sahil ; Di Lazzaro, Giulia ; Latorre, Anna ; Edwards, Mark J. ; Balint, Bettina ; Basu, Purba ; Kobylecki, Christopher ; Groppa, Sergiu ; Hegde, Anaita ; Mulroy, Eoin ; Estevez‐Fraga, Carlos ; Arora, Anshita ; Kumar, Hrishikesh ; Schneider, Susanne A. ; Lewis, Patrick A. ; Jaunmuktane, Zane ; Revesz, Tamas ; Gandhi, Sonia ; Wood, Nicholas W. ; Hardy, John A. ; Tinazzi, Michele ; Lal, Vivek ; Houlden, Henry ; Bhatia, Kailash P.Movement disorders, 2022-01, Vol.37 (1), p.148-161 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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8 |
Material Type: Artigo
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Expert opinion on clinical experience with subcutaneous interferon beta‐1a in multiple sclerosis patients with different disease activity profilesBohlega, Saeed ; Alroughani, Raed ; Alkhawajah, Mona ; Alsaadi, Taoufik ; Daif, Abdulkader ; Elalamy, Osama R. ; Inshasi, Jihad S. ; Noori, Suzan ; Shakra, Mustafa ; Shatila, Ahmed O. ; Boghdady, Ahmed El ; Boshra, AmirNeurology and clinical neuroscience, 2019-09, Vol.7 (5), p.260-266 [Periódico revisado por pares]Tokyo: Wiley Subscription Services, IncTexto completo disponível |
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9 |
Material Type: Artigo
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Gastrointestinal involvement in neuromuscular disordersFinsterer, Josef ; Strobl, WalterJournal of gastroenterology and hepatology, 2024-06 [Periódico revisado por pares]Texto completo disponível |
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10 |
Material Type: Artigo
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Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsyMinassian, Berge A. ; Sainz, Jesus ; Serratosa, Jose M. ; Gee, Manyee ; Sakamoto, Lise M. ; Bohlega, Saeed ; Geoffroy, Guy ; Barr, Cathy ; Scherer, Steve W. ; Tomiyasu, Uwamie ; Carpenter, Stirling ; Wigg, Karen ; Sanghvi, A. V. ; Delgado‐Escueta, Antonio V.Annals of neurology, 1999-02, Vol.45 (2), p.262-265 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |