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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Lafora Progressive Myoclonus Epilepsy: Narrowing the Chromosome 6q24 Locus by Recombinations and HomozygositiesSainz, Jesus ; Minassian, Berge A. ; Serratosa, Jose M. ; Gee, Manyee N. ; Sakamoto, Lise M. ; Iranmanesh, Reza ; Bohlega, Saeed ; Baumann, Robert J. ; Ryan, Steve ; Sparkes, Robert S. ; Delgado-Escueta, Antonio V.American journal of human genetics, 1997-11, Vol.61 (5), p.1205-1209 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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2 |
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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3 |
Material Type: Artigo
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T313M PINK1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson DiseaseChishti, Muhammad A ; Bohlega, Saeed ; Ahmed, Maqbool ; Loualich, Arslan ; Carroll, Pamela ; Sato, Christine ; St George-Hyslop, Peter ; Westaway, David ; Rogaeva, EkaterinaArchives of neurology (Chicago), 2006-10, Vol.63 (10), p.1483-1485Chicago, IL: American Medical AssociationTexto completo disponível |
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4 |
Material Type: Artigo
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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal SyndromeAlazami, Anas M. ; Al-Saif, Amr ; Al-Semari, Abdulaziz ; Bohlega, Saeed ; Zlitni, Soumaya ; Alzahrani, Fatema ; Bavi, Prashant ; Kaya, Namik ; Colak, Dilek ; Khalak, Hanif ; Baltus, Andy ; Peterlin, Borut ; Danda, Sumita ; Bhatia, Kailash P. ; Schneider, Susanne A. ; Sakati, Nadia ; Walsh, Christopher A. ; Al-Mohanna, Futwan ; Meyer, Brian ; Alkuraya, Fowzan S.American journal of human genetics, 2008-12, Vol.83 (6), p.684-691 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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5 |
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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6 |
Material Type: Artigo
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A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi familyWakil, Salma M ; Bohlega, Saeed ; Hagos, Samya ; Baz, Batoul ; Al Dossari, Haya ; Ramzan, Khushnooda ; Al-Hassnan, Zuhair NEuropean journal of medical genetics, 2013-01, Vol.56 (1), p.43-45 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |
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7 |
Material Type: Artigo
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Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissuesBohlega, Saeed ; Al-Ajlan, Huda ; Al-Saif, AmrEuropean journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.640-643 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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8 |
Material Type: Artigo
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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous FamiliesAlazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E. ; Anazi, Shamsa ; Al-Dosari, Mohammed S. ; Alzahrani, Fatema ; Hijazi, Hadia ; Alshammari, Muneera ; Aldahmesh, Mohammed A. ; Salih, Mustafa A. ; Faqeih, Eissa ; Alhashem, Amal ; Bashiri, Fahad A. ; Al-Owain, Mohammed ; Kentab, Amal Y. ; Sogaty, Sameera ; Al Tala, Saeed ; Temsah, Mohamad-Hani ; Tulbah, Maha ; Aljelaify, Rasha F. ; Alshahwan, Saad A. ; Seidahmed, Mohammed Zain ; Alhadid, Adnan A. ; Aldhalaan, Hesham ; AlQallaf, Fatema ; Kurdi, Wesam ; Alfadhel, Majid ; Babay, Zainab ; Alsogheer, Mohammad ; Kaya, Namik ; Al-Hassnan, Zuhair N. ; Abdel-Salam, Ghada M.H. ; Al-Sannaa, Nouriya ; Al Mutairi, Fuad ; El Khashab, Heba Y. ; Bohlega, Saeed ; Jia, Xiaofei ; Nguyen, Henry C. ; Hammami, Rakad ; Adly, Nouran ; Mohamed, Jawahir Y. ; Abdulwahab, Firdous ; Ibrahim, Niema ; Naim, Ewa A. ; Al-Younes, Banan ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; Xiong, Yong ; Abouelhoda, Mohamed ; Aldeeri, Abdulrahman A. ; Monies, Dorota M. ; Alkuraya, Fowzan S.Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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9 |
Material Type: Artigo
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi familiesBohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada ABMC research notes, 2016-06, Vol.9 (1), p.295-295, Article 295 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL familyAl-Shaar, Hussam Abou ; Qadi, Najeeb ; Ahmed, Mohammed ; Meyer, Brian F ; Bohlega, SaeedJournal of the neurological sciences, 2016-08, Vol.367, p.239-243 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |