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11 |
Material Type: Artigo
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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extra pyramidal SyndromeALAZAMI, Anas M ; AL-SAIF, Amr ; 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 ; AL-SEMARI, Abdulaziz ; BOHLEGA, Saeed ; ZLITNI, Soumaya ; ALZAHRANI, Fatema ; BAVI, Prashant ; KAYA, Namik ; COLAK, Dilek ; KHALAK, HanifAmerican journal of human genetics, 2008, Vol.83 (6), p.684-691 [Periódico revisado por pares]Cambridge, MA: Cell PressTexto completo disponível |
12 |
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 |
13 |
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 |
14 |
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 |
15 |
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 |
16 |
Material Type: Artigo
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Subacute sclerosing panencephalitis: evaluation with CT and MRBrismar, J ; Gascon, GG ; von Steyern, KV ; Bohlega, SAmerican journal of neuroradiology : AJNR, 1996-04, Vol.17 (4), p.761-772 [Periódico revisado por pares]Oak Brook, IL: Am Soc NeuroradiologyTexto completo disponível |
17 |
Material Type: Artigo
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Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked RegionJones, Alison C. ; Yamamura, Yasuhiro ; Almasy, Laura ; Bohlega, Saeed ; Elibol, Bülent ; Hubble, Jean ; Kuzuhara, Shigeki ; Uchida, Masao ; Yanagi, Tsutomu ; Weeks, Daniel E. ; Nygaard, Torbjoern G.American journal of human genetics, 1998-07, Vol.63 (1), p.80-87 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
18 |
Material Type: Artigo
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Guillain-Barré syndrome with severe demyelination mimicking axonopathyBohlega, Saeed A. ; Stigsby, Bent ; Haider, A. ; McLean, DonaldMuscle & nerve, 1997-04, Vol.20 (4), p.514-516 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
19 |
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 |
20 |
Material Type: Artigo
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Transcranial magnetic stimulation in Behçet's disease: a cross-sectional and longitudinal study with 44 patients comparing clinical, neuroradiological, somatosensory and brain-stem auditory evoked potential findingsStigsby, Bent ; Bohlega, Saeed ; McLean, Donald R ; Al-Kawi, Mohammed ZuheirClinical neurophysiology, 2000-07, Vol.111 (7), p.1320-1329 [Periódico revisado por pares]Shannon: Elsevier Ireland LtdTexto completo disponível |