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Cancer Discovery|August 14, 2021
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human BrainJavier Ganz, Eduardo A Maury, Basheer Becerra, et al.Nature Neuroscience|April 30, 2025
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasiaSara Baldassari, Esther Klingler, Lucia Gomez Teijeiro, et al.Cell|March 19, 2024
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytesJavier Ganz, Lovelace J Luquette, Sara Bizzotto, et al.Cell Reports|December 28, 2017
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical DysplasiasAlissa M D'Gama, Mollie B Woodworth, Amer A Hossain, et al.Nature Genetics|September 26, 2022
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elementsLovelace J Luquette, Michael B Miller, Zinan Zhou, et al.Nature Neuroscience|May 27, 2014
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and humanMichel Kielar, Françoise Phan Dinh Tuy, Sara Bizzotto, et al.Biorxiv : the Preprint Server for Biology|November 21, 2023
Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortexSonia Nan Kim, Vinayak V Viswanadham, Ryan N Doan, et al.Cell Reports|November 15, 2025
Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortexVinayak V Viswanadham, Sonia N Kim, Emre Caglayan, et al.Proceedings of the National Academy of Sciences of the United States of America|July 17, 2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programsSara Bizzotto, Maya Talukdar, Edward A Stronge, et al.Epilepsia|May 5, 2021
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trialIngmar Blümcke, Roland Coras, Robyn M Busch, et al.Pageof 3