2011
Recessive LAMC3 mutations cause malformations of occipital cortical development
Barak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Çağlayan A, Öztürk A, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Özçelik T, Lifton RP, Šestan N, Bilgüvar K, Günel M. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics 2011, 43: 590-594. PMID: 21572413, PMCID: PMC3329933, DOI: 10.1038/ng.836.Peer-Reviewed Original Research
2010
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar K, Öztürk A, Louvi A, Kwan KY, Choi M, Tatlı B, Yalnızoğlu D, Tüysüz B, Çağlayan A, Gökben S, Kaymakçalan H, Barak T, Bakırcıoğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yılmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçınkaya C, Kumandaş S, Topçu M, Özmen M, Šestan N, Lifton RP, State MW, Günel M. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010, 467: 207-210. PMID: 20729831, PMCID: PMC3129007, DOI: 10.1038/nature09327.Peer-Reviewed Original ResearchConceptsAbnormal cortical developmentWD repeat domain 62 (WDR62) geneSevere brain malformationsWhole-exome sequencingBrain abnormalitiesBrain malformationsCortical developmentMolecular pathogenesisCerebellar hypoplasiaWDR62 mutationsEmbryonic neurogenesisDiagnostic classificationMicrocephaly genesSmall family sizeGenetic heterogeneityWide spectrumRecessive mutationsPachygyriaPathogenesisHypoplasiaNeocortexNeurogenesisAbnormalitiesMalformationsMutations
2000
The status of status: seizures are bad for your brain's health.
Bronen R. The status of status: seizures are bad for your brain's health. American Journal Of Neuroradiology 2000, 21: 1782-3. PMID: 11110527, PMCID: PMC7974280.Commentaries, Editorials and Letters
1990
Magnetic resonance imaging contrast agents: theory and application to the central nervous system.
Bronen R, Sze G. Magnetic resonance imaging contrast agents: theory and application to the central nervous system. Journal Of Neurosurgery 1990, 73: 820-39. PMID: 2230966, DOI: 10.3171/jns.1990.73.6.0820.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsCentral nervous systemComputerized tomographyMR imagingNervous systemContrast-enhanced computerized tomographyActive multiple sclerosisIntradural spinal neoplasmsSecondary brain tumorsCerebral blood flowContrast-enhanced MR imagingContrast agentsIntrathecal contrast mediumStudy of choiceMagnetic resonanceMagnetic resonance imagingSignal intensity changesCNS lesionsMultiple sclerosisPituitary lesionsPostoperative stateAcoustic neurinomaSpinal neoplasmsMore abnormalitiesBlood flowSpinal disease