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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Parkinson's Disease in Saudi Patients: A Genetic StudyAl-Mubarak, Bashayer R ; Bohlega, Saeed A ; Alkhairallah, Thamer S ; Magrashi, Amna I ; AlTurki, Maha I ; Khalil, Dania S ; AlAbdulaziz, Basma S ; Abou Al-Shaar, Hussam ; Mustafa, Abeer E ; Alyemni, Eman A ; Alsaffar, Bashayer A ; Tahir, Asma I ; Al Tassan, Nada A Cookson, Mark R.PloS one, 2015-08, Vol.10 (8), p.e0135950-e0135950 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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4 |
Material Type: Artigo
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegiaWakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas MBMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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5 |
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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6 |
Material Type: Artigo
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Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi ArabiaBohlega, Saeed A ; Shinwari, Jameela M ; Al Sharif, Latifa J ; Khalil, Dania S ; Alkhairallah, Thamer S ; Al Tassan, Nada ABMC medical genetics, 2011-02, Vol.12 (1), p.27-27, Article 27 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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7 |
Material Type: Artigo
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndromeMonies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, SaeedNeuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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8 |
Material Type: Artigo
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Functional clinical outcomes in multiple sclerosis: Current status and future prospectsKarabudak, Rana ; Dahdaleh, Maurice ; Aljumah, Mohammed ; Alroughani, Raed ; Alsharoqi, I. Ahmed ; AlTahan, Abdulrahman M ; Bohlega, Saeed A ; Daif, Abdulkader ; Deleu, Dirk ; Amous, Amer ; Inshasi, Jihad S ; Rieckmann, Peter ; Sahraian, Mohammed A ; Yamout, Bassem IMultiple sclerosis and related disorders, 2015-05, Vol.4 (3), p.192-201Netherlands: Elsevier B.VTexto completo disponível |
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9 |
Material Type: Artigo
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SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3Alazami, Anas M ; Alzahrani, Fatema ; Bohlega, Saeed ; Alkuraya, Fowzan SNeurology, 2014-05, Vol.82 (18), p.1665-1666 [Periódico revisado por pares]United States: American Academy of NeurologyTexto 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 |