2025
Clinical phenotypes among patients with familial forms of Chiari malformation type 1.
Mekbib K, Muñoz W, Allington G, Zhao S, Mehta N, Fortes C, Shohfi J, Fan B, Nelson-Williams C, DeSpenza T, Butler W, Alper S, Jackson E, Kahle K. Clinical phenotypes among patients with familial forms of Chiari malformation type 1. Journal Of Neurosurgery Pediatrics 2025, 36: 109-118. PMID: 40315599, DOI: 10.3171/2025.1.peds24187.Peer-Reviewed Original ResearchConceptsChiari malformation type 1Connective tissue disordersClinical phenotypeNeurological comorbiditiesType 1Family membersCerebellar tonsillar herniationPatient-parent triosEhlers-Danlos syndromeWhole-exome sequencingNeck painTonsillar herniationCraniocervical junctionNeural compressionCSF obstructionTissue disordersUnivariate analysisCohort studyFamily historyClinical symptomsNeurosurgical managementNeurodevelopmental conditionsVariable symptomsForamen magnumPatients
2023
Human genetics and molecular genomics of Chiari malformation type 1
Mekbib K, Muñoz W, Allington G, McGee S, Mehta N, Shofi J, Fortes C, Le H, Nelson-Williams C, Nanda P, Dennis E, Kundishora A, Khanna A, Smith H, Ocken J, Greenberg A, Wu R, Moreno-De-Luca A, DeSpenza T, Zhao S, Marlier A, Jin S, Alper S, Butler W, Kahle K. Human genetics and molecular genomics of Chiari malformation type 1. Trends In Molecular Medicine 2023, 29: 1059-1075. PMID: 37802664, DOI: 10.1016/j.molmed.2023.08.013.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingChiari malformation type 1Recent whole-exome sequencingDevelopmental signalingTranscription regulationCandidate genesGenetic studiesMolecular genomicsHuman geneticsSignificant genetic contributionGenetic contributionType 1De novo germlineExome sequencingStructural brain disordersTreatment failureSurgical approachSpinal canalCerebellar tonsilsCraniocervical junctionCaudal displacementBrain disordersNeurophysiological endophenotypesGenomicsGermline
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