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Mutations du gène EML1/Eml1, progéniteurs neuronauxet hétérotopieschez l'homme et la souris.
Published in:
Médecine Sciences, 2014, v. 30, n. 12, p. 1087, doi. 10.1051/medsci/20143012011
By:
- Kielar, Michel;
- Tuy, Françoise Phan Dinh;
- Bizzotto, Sara;
- Belvindrah, Richard;
- Croquelois, Alexandre;
- Francis, Fiona
Publication type:
Article
Comprehensive identification of somatic nucleotide variants in human brain tissue.
Published in:
Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02285-3
By:
- Wang, Yifan;
- Bae, Taejeong;
- Thorpe, Jeremy;
- Sherman, Maxwell A.;
- Jones, Attila G.;
- Cho, Sean;
- Daily, Kenneth;
- Dou, Yanmei;
- Ganz, Javier;
- Galor, Alon;
- Lobon, Irene;
- Pattni, Reenal;
- Rosenbluh, Chaggai;
- Tomasi, Simone;
- Tomasini, Livia;
- Yang, Xiaoxu;
- Zhou, Bo;
- Akbarian, Schahram;
- Ball, Laurel L.;
- Bizzotto, Sara
Publication type:
Article
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
Published in:
JAMA Neurology, 2023, v. 80, n. 6, p. 578, doi. 10.1001/jamaneurol.2023.0473
By:
- Khoshkhoo, Sattar;
- Wang, Yilan;
- Chahine, Yasmine;
- Erson-Omay, E. Zeynep;
- Robert, Stephanie M.;
- Kiziltug, Emre;
- Damisah, Eyiyemisi C.;
- Nelson-Williams, Carol;
- Zhu, Guangya;
- Kong, Wenna;
- Huang, August Yue;
- Stronge, Edward;
- Phillips, H. Westley;
- Chhouk, Brian H.;
- Bizzotto, Sara;
- Chen, Ming Hui;
- Adikari, Thiuni N.;
- Ye, Zimeng;
- Witkowski, Tom;
- Lai, Dulcie
Publication type:
Article
Morphological and functional aspects of progenitors perturbed in cortical malformations.
Published in:
Frontiers in Cellular Neuroscience, 2015, v. 8/9, p. 1, doi. 10.3389/fncel.2015.00030
By:
- Bizzotto, Sara;
- Francis, Fiona
Publication type:
Article
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.
Published in:
Epilepsia (Series 4), 2021, v. 62, n. 6, p. 1416, doi. 10.1111/epi.16899
By:
- Blümcke, Ingmar;
- Coras, Roland;
- Busch, Robyn M.;
- Morita‐Sherman, Marcia;
- Lal, Dennis;
- Prayson, Richard;
- Cendes, Fernando;
- Lopes‐Cendes, Iscia;
- Rogerio, Fabio;
- Almeida, Vanessa S.;
- Rocha, Cristiane S.;
- Sim, Nam Suk;
- Lee, Jeong Ho;
- Kim, Se Hoon;
- Baulac, Stephanie;
- Baldassari, Sara;
- Adle‐Biassette, Homa;
- Walsh, Christopher A.;
- Bizzotto, Sara;
- Doan, Ryan N.
Publication type:
Article
The human brain through the lens of somatic mosaicism.
Published in:
Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1172469
By:
- Bizzotto, Sara
Publication type:
Article
MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00893-3
By:
- Doan, Ryan N.;
- Miller, Michael B.;
- Kim, Sonia N.;
- Rodin, Rachel E.;
- Ganz, Javier;
- Bizzotto, Sara;
- Morillo, Katherine S.;
- Huang, August Yue;
- Digumarthy, Reethika;
- Zemmel, Zachary;
- Walsh, Christopher A.
Publication type:
Article
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
Published in:
Nature Neuroscience, 2014, v. 17, n. 7, p. 923, doi. 10.1038/nn.3729
By:
- Kielar, Michel;
- Tuy, Françoise Phan Dinh;
- Bizzotto, Sara;
- Lebrand, Cécile;
- de Juan Romero, Camino;
- Poirier, Karine;
- Oegema, Renske;
- Mancini, Grazia Maria;
- Bahi-Buisson, Nadia;
- Olaso, Robert;
- Le Moing, Anne-Gaëlle;
- Boutourlinsky, Katia;
- Boucher, Dominique;
- Carpentier, Wassila;
- Berquin, Patrick;
- Deleuze, Jean-François;
- Belvindrah, Richard;
- Borrell, Victor;
- Welker, Egbert;
- Chelly, Jamel
Publication type:
Article

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