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A 23-year-old man with seizures and visual deficit

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dc.contributor.author Boustany R.-M.
dc.contributor.author Britton J.W.
dc.contributor.author Parisi J.E.
dc.contributor.author Keegan B.M.
dc.contributor.editor
dc.date Jan-2008
dc.date.accessioned 2017-10-05T15:30:54Z
dc.date.available 2017-10-05T15:30:54Z
dc.date.issued 2008
dc.identifier 10.1212/01.wnl.0000298372.36118.1f
dc.identifier.isbn
dc.identifier.issn 00283878
dc.identifier.uri http://hdl.handle.net/10938/15272
dc.description.abstract [No abstract available]
dc.format.extent
dc.format.extent Pages: (73-78)
dc.language English
dc.publisher PHILADELPHIA
dc.relation.ispartof Publication Name: Neurology; Publication Year: 2008; Volume: 70; no. 1; Pages: (73-78);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title A 23-year-old man with seizures and visual deficit
dc.type Conference Paper
dc.contributor.affiliation Boustany, R.-M., Abu-Haidar Neuroscience Institute, American University Beirut, Lebanon
dc.contributor.affiliation Britton, J.W., Department of Neurology, College of Medicine, Mayo Clinic, Rochester, MN, United States
dc.contributor.affiliation Parisi, J.E., Department of Laboratory Medicine and Pathology, College of Medicine, Mayo Clinic, Rochester, MN, United States
dc.contributor.affiliation Keegan, B.M., Department of Neurology, College of Medicine, Mayo Clinic, Rochester, MN, United States, Department of Neurology, Mayo Clinic, College of Medicine, 200 First St. SW, Rochester, MN 44901, United States
dc.contributor.authorAddress Keegan, B.M.; Department of Neurology, Mayo Clinic, College of Medicine, 200 First St. SW, Rochester, MN 44901, United States; email: keegan.bmark@mayo.edu
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Biochemistry and Molecular Genetics;
dc.contributor.authorDepartment Biochemistry and Molecular Genetics
dc.contributor.authorDivision
dc.contributor.authorEmail keegan.bmark@mayo.edu
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Boustany, RM
dc.contributor.authorInitials Britton, JW
dc.contributor.authorInitials Parisi, JE
dc.contributor.authorInitials Keegan, BM
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Keegan, BM (reprint author), Mayo Clin, Coll Med, Dept Neurol, 200 First St SW, Rochester, MN 55901 USA.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited BOUSTANY RM, 1993, J INHERIT METAB DIS, V16, P252, DOI 10.1007-BF00710257; Campbell PE, 2003, J INHERIT METAB DIS, V26, P629, DOI 10.1023-B:BOLI.0000005619.14180.5c; Dhar S, 2002, ANN NEUROL, V51, P448, DOI 10.1002-ana.10143; DiMauro S, 2004, MYOLOGY, P1623; FEDERICO A, 1991, DEV NEUROSCI-BASEL, V13, P320, DOI 10.1159-000112180; Gao HL, 2002, AM J HUM GENET, V70, P324, DOI 10.1086-338190; Goebel HH, 2004, BRAIN PATHOL, V14, P61; Guo WX, 1999, CELL MOL NEUROBIOL, V19, P671, DOI 10.1023-A:1006992704108; Haltia M, 2003, J NEUROPATH EXP NEUR, V62, P1; Hendriksz CJ, 2004, J INHERIT METAB DIS, V27, P241, DOI 10.1023-B:BOLI.0000028777.38551.5a; Lane SC, 1996, J NEUROCHEM, V67, P677; LERNER TJ, 1995, CELL, V82, P949, DOI 10.1016-0092-8674(95)90274-0; Lockhart EM, 2002, NEUROSCI LETT, V328, P33, DOI 10.1016-S0304-3940(02)00448-2; Minassian BA, 1998, NAT GENET, V20, P171, DOI 10.1038-2470; Minassian BA, 2000, NEUROLOGY, V54, P488; Minassian BA, 1995, CLIN NEUROSCI, V3, P223; MOUSALLEM T, 2006, EMERY RIMOINS PRINCI, P2449; Munroe PB, 1997, AM J HUM GENET, V61, P310, DOI 10.1086-514846; Pane MA, 1999, PEDIATR RES, V46, P367, DOI 10.1203-00006450-199910000-00003; PENA JA, 2001, PEDIATR NEUROL, V25, P75; Pentchev PG, 2004, BBA-MOL CELL BIOL L, V1685, P3, DOI 10.1016-j.bbalip.2004.08.005; Persaud-Sawin DA, 2007, PEDIATR RES, V61, P146, DOI 10.1203-pdr.0b013e31802d8a4a; Persaud-Sawin DA, 2004, PEDIATR RES, V56, P449, DOI 10.1203-01.PDR.0000136152.54638.95; Persaud-Sawin DANW, 2002, HUM MOL GENET, V11, P2129, DOI 10.1093-hmg-11.18.2129; PURANAM K, 1997, NEUROPEDIATRICS, V28, P1; Puranam KL, 1999, MOL GENET METAB, V66, P294, DOI 10.1006-mgme.1999.2834; Rylova SN, 2002, CANCER RES, V62, P801; Schulz A, 2006, J BIOL CHEM, V281, P2784, DOI 10.1074-jbc.M509483200; Schulz A, 2004, ANN NEUROL, V56, P342, DOI 10.1002-ana.20187; Silva CMD, 1999, HUM MUTAT, V13, P401, DOI 10.1002-(SICI)1098-1004(1999)13:5401::AID-HUMU93.0.CO;2-N; Sleat DE, 1999, AM J HUM GENET, V64, P1511, DOI 10.1086-302427; Teixeira C, 2003, J NEUROL, V250, P661, DOI 10.1007-s00415-003-1050-z; Teixeira CA, 2003, HUM MUTAT, V21, P502, DOI 10.1002-humu.10207; Teixeira CAF, 2006, BBA-MOL BASIS DIS, V1762, P637, DOI 10.1016-j.bbadis.2006.06.002; Vanier MT, 2004, BBA-MOL CELL BIOL L, V1685, P14, DOI 10.1016-j.bbalip.2004.08.007; Vanier MT, 2003, CLIN GENET, V64, P269, DOI 10.1034-j.1399-0004.2003.00147.x; ZEMAN W, 1969, PEDIATRICS, V44, P570; ZUCKER A, 2006, PEDIAT NEUROLOGY PRI, P1315
dc.description.citedCount
dc.description.citedTotWOSCount 0
dc.description.citedWOSCount 0
dc.format.extentCount 6
dc.identifier.articleNo
dc.identifier.coden NEURA
dc.identifier.pubmedID 18166709
dc.identifier.scopusID 37849013634
dc.identifier.url
dc.publisher.address 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr Neurology
dc.relation.ispartOfIssue 1
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Neurology
dc.relation.ispartofPubTitleAbbr Neurology
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 70
dc.source.ID WOS:000252046800012
dc.type.publication Journal
dc.subject.otherAuthKeyword
dc.subject.otherChemCAS
dc.subject.otherIndex adult
dc.subject.otherIndex case report
dc.subject.otherIndex cerebellum atrophy
dc.subject.otherIndex conference paper
dc.subject.otherIndex cornea dystrophy
dc.subject.otherIndex diagnostic accuracy
dc.subject.otherIndex electroencephalogram
dc.subject.otherIndex extrachromosomal inheritance
dc.subject.otherIndex human
dc.subject.otherIndex male
dc.subject.otherIndex neurologic examination
dc.subject.otherIndex nuclear magnetic resonance imaging
dc.subject.otherIndex priority journal
dc.subject.otherIndex prognosis
dc.subject.otherIndex seizure
dc.subject.otherIndex visual field defect
dc.subject.otherIndex Adult
dc.subject.otherIndex Humans
dc.subject.otherIndex Magnetic Resonance Imaging
dc.subject.otherIndex Male
dc.subject.otherIndex Pons
dc.subject.otherIndex Seizures
dc.subject.otherIndex Vision Disorders
dc.subject.otherKeywordPlus NEURONAL CEROID-LIPOFUSCINOSIS
dc.subject.otherKeywordPlus BATTEN-DISEASE
dc.subject.otherKeywordPlus GENE
dc.subject.otherKeywordPlus CLN3
dc.subject.otherKeywordPlus MUTATIONS
dc.subject.otherKeywordPlus APOPTOSIS
dc.subject.otherKeywordPlus PROTEIN
dc.subject.otherKeywordPlus VARIANT
dc.subject.otherKeywordPlus NEURODEGENERATION
dc.subject.otherKeywordPlus EXPRESSION
dc.subject.otherWOS Clinical Neurology


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