Featured Publications
A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans
Günel M, Awad I, Finberg K, Anson J, Steinberg G, Batjer H, Kopitnik T, Morrison L, Giannotta S, Nelson-Williams C, Lifton R. A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans. New England Journal Of Medicine 1996, 334: 946-951. PMID: 8596595, DOI: 10.1056/nejm199604113341503.Peer-Reviewed Original ResearchConceptsCavernous malformationsCerebral cavernous malformationsSporadic casesFamilial diseaseSame mutationSporadic cavernous malformationsDevelopment of symptomsHispanic AmericansCerebral hemorrhageVascular diseaseAsymptomatic carriersHigh prevalenceClinical casesMalformationsDiseaseFounder mutationPatientsAge dependenceAffected membersKindredsMarkersMexican descentEthnic groupsMutationsSame allele
2022
Cross-platform analysis reveals cellular and molecular landscape of glioblastoma invasion
Chen AT, Xiao Y, Tang X, Baqri M, Gao X, Reschke M, Sheu WC, Long G, Zhou Y, Deng G, Zhang S, Deng Y, Bai Z, Kim D, Huttner A, Kunes R, Günel M, Moliterno J, Saltzman WM, Fan R, Zhou J. Cross-platform analysis reveals cellular and molecular landscape of glioblastoma invasion. Neuro-Oncology 2022, 25: 482-494. PMID: 35901838, PMCID: PMC10013636, DOI: 10.1093/neuonc/noac186.Peer-Reviewed Original ResearchConceptsCrystallin alpha BTumor invasionGBM invasionHistology samplesMolecular landscapeTreatment of glioblastomaPostoperative recurrenceGBM patientsInvasive glioblastomaResection modelGlioblastomaNon-invasive counterpartsGBM samplesGlioblastoma invasionCD44PatientsInvasionAlpha BCellular levelTranscriptomic featuresRNA sequencing dataRecurrenceHistology stainsLevelsDisease
2018
9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus
Furey C, Antwi P, Duran D, Timberlake AT, Nelson-Williams C, Matouk CC, DiLuna ML, Günel M, Kahle KT. 9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus. Molecular Case Studies 2018, 4: a003145. PMID: 29895553, PMCID: PMC6169828, DOI: 10.1101/mcs.a003145.Peer-Reviewed Original ResearchConceptsDiffuse villous hyperplasiaVillous hyperplasiaChoroid plexusSyndromic hydrocephalusCerebrospinal fluid homeostasisSurgical managementPathological featuresHigh prevalenceHydrocephalus treatmentHydrocephalusDVHCPFluid homeostasisCSF productionHyperplasiaPlexusChromosome 9pCritical genesHypersecretionPatientsPathogenesisPrevalenceDisease
2014
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science 2014, 343: 506-511. PMID: 24482476, PMCID: PMC4157572, DOI: 10.1126/science.1247363.Peer-Reviewed Original ResearchConceptsHereditary spastic paraplegiaFurther candidate genesMotor neuron diseaseNeurodegenerative disordersGene discoveryHSP genesGenetic basisCandidate genesNetwork analysisNeuron diseaseCellular transportWhole-exome sequencingNeurodegenerative motor neuron diseaseProgressive age-dependent lossAge-dependent lossGenesMechanistic understandingMotor tract functionCommon neurodegenerative disorderFraction of casesTract functionGenetic diagnosisSpastic paraplegiaGlobal viewDisease
2010
The critical role of hemodynamics in the development of cerebral vascular disease.
Nixon AM, Gunel M, Sumpio BE. The critical role of hemodynamics in the development of cerebral vascular disease. Journal Of Neurosurgery 2010, 112: 1240-53. PMID: 19943737, DOI: 10.3171/2009.10.jns09759.Peer-Reviewed Original ResearchConceptsCerebral vascular diseaseVascular diseaseUnique hemodynamic conditionsExtracranial atherosclerosisArtery diseaseIntracranial atherosclerosisIntracranial saccular aneurysmsTreatment optionsVascular disordersHemodynamic parametersAneurysm formationSaccular aneurysmHemodynamic conditionsNormal levelsVascular biologyDiseaseMultiple studiesMore studiesPatient-specific dataAtherosclerosisHemodynamicsMagnitude of WSSRiskLow wall shear stressDisorders
2009
COL4A1 Mutation in Preterm Intraventricular Hemorrhage
Bilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR. COL4A1 Mutation in Preterm Intraventricular Hemorrhage. The Journal Of Pediatrics 2009, 155: 743-745. PMID: 19840616, PMCID: PMC2884156, DOI: 10.1016/j.jpeds.2009.04.014.Peer-Reviewed Original ResearchMeSH KeywordsCerebral HemorrhageCollagen Type IVDiseases in TwinsFemaleFollow-Up StudiesGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseGestational AgeHumansInfant, NewbornInfant, PrematureInfant, Premature, DiseasesMaleMutationPregnancyTwins, DizygoticUltrasonography, Doppler, TranscranialConceptsIntraventricular hemorrhageCerebral small vessel diseasePreterm Intraventricular HemorrhageSmall vessel diseaseSpectrum of diseaseCommon complicationPreterm infantsPreterm twinsVessel diseaseCOL4A1 mutationsHemorrhageRare variantsDiseaseType IV procollagenCOL4A1MutationsComplicationsInfantsFetuses
2000
Carotid Endarterectomy Prevention Strategies and Complications Management
Gunel M, Awad I. Carotid Endarterectomy Prevention Strategies and Complications Management. Neurosurgery Clinics Of North America 2000, 11: 351-364. PMID: 10733850, DOI: 10.1016/s1042-3680(18)30137-2.Peer-Reviewed Original ResearchConceptsCarotid endarterectomyAppropriate patient selectionCarotid occlusive diseaseLow complication ratePerioperative complicationsPerioperative courseComplication rateIntraoperative complicationsOcclusive diseaseSurgical treatmentPatient selectionPostoperative careComplication managementPrevention strategiesCareful assessmentComplicationsEndarterectomyMorbidityPatientsDiseaseCarePrevention
1998
Molecular Biology of Cerebrovascular Diseases
Gunel M, Awad I, Lifton R. Molecular Biology of Cerebrovascular Diseases. 1998, 163-173. DOI: 10.1007/978-1-4613-9350-4_15.Peer-Reviewed Original ResearchMolecular biologyIdentification of genesCerebrovascular diseaseMolecular geneticsMolecular mechanismsScope of neurosurgeryNovel therapeutic strategiesBiologyNew insightsPathologic angiogenesisInherited predispositionTherapeutic strategiesBasic mechanismsPreclinical diagnosisDiseaseGenesGeneticsMechanismAngiogenesisIschemiaPatientsPathophysiologyPathogenesisNew opportunitiesDiagnosis