Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations S Baulac, S Ishida, E Marsan, C Miquel, A Biraben, DK Nguyen, D Nordli, ... Annals of neurology 77 (4), 675-683, 2015 | 294 | 2015 |
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study S Baldassari, T Ribierre, E Marsan, H Adle-Biassette, S Ferrand-Sorbets, ... Acta neuropathologica 138, 885-900, 2019 | 251 | 2019 |
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy T Ribierre, C Deleuze, A Bacq, S Baldassari, E Marsan, M Chipaux, ... The Journal of clinical investigation 128 (6), 2452-2458, 2018 | 197 | 2018 |
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia S Weckhuysen, E Marsan, V Lambrecq, C Marchal, M Morin‐Brureau, ... Epilepsia 57 (6), 994-1003, 2016 | 174 | 2016 |
Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy E Marsan, S Baulac Neuropathology and applied neurobiology 44 (1), 6-17, 2018 | 167 | 2018 |
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy RS Møller, S Weckhuysen, M Chipaux, E Marsan, V Taly, EM Bebin, ... Neurology: Genetics 2 (6), e118, 2016 | 153 | 2016 |
Depdc5 knockout rat: a novel model of mTORopathy E Marsan, S Ishida, A Schramm, S Weckhuysen, G Muraca, S Lecas, ... Neurobiology of disease 89, 180-189, 2016 | 95 | 2016 |
Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures M Boillot, C Huneau, E Marsan, K Lehongre, V Navarro, S Ishida, ... Brain 137 (11), 2984-2996, 2014 | 62 | 2014 |
Depdc5 knockdown causes mTOR‐dependent motor hyperactivity in zebrafish H de Calbiac, A Dabacan, E Marsan, H Tostivint, G Devienne, S Ishida, ... Annals of clinical and translational neurology 5 (5), 510-523, 2018 | 47 | 2018 |
Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations E Marsan, D Velmeshev, A Ramsey, RK Patel, J Zhang, M Koontz, ... The Journal of Clinical Investigation 133 (6), 2023 | 12 | 2023 |
Granulin loss of function in human mature brain organoids implicates astrocytes in TDP-43 pathology M de Majo, M Koontz, E Marsan, N Salinas, A Ramsey, YM Kuo, K Seo, ... Stem cell reports 18 (3), 706-719, 2023 | 11 | 2023 |
Disentangling brain vasculature in neurogenesis and neurodegeneration using single-cell transcriptomics EE Crouch, T Joseph, E Marsan, EJ Huang Trends in neurosciences, 2023 | 5 | 2023 |
Endosomal recycling defects link Huntington’s disease with McLeod syndrome E Marsan, EJ Huang The Journal of Cell Biology 221 (10), 2022 | 3 | 2022 |
CONSERVED ASTROGLIAL TOXICITY PROMOTES SYNAPTIC DEGENERATION IN FRONTOTEMPORAL DEMENTIA WITH GRN MUTATIONS A Ramsey, E Marsan, E Huang IBRO Neuroscience Reports 15, S483, 2023 | | 2023 |
Genomic and transcriptomic profiling of malformations of cortical development: from tissue to single-cell resolution S Baldassari, M Chipaux, E Marsan, S Ferrand-Sorbets, G Dorfmuller, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 4-4, 2020 | | 2020 |
Kyounghee Seo, Huinan Li, Nina Dräger, 4 Kun Leng, 4, 5 Santiago L. Gonzales, Michael Kurnellas, 6 Yuichiro Miyaoka, 7, 8 Joseph R. Klim, 9, 10, 11 Martin Kampmann, 4, 12 … M de Majo, M Koontz, E Marsan, N Salinas, A Ramsey, YM Kuo | | |