Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

Por Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien
Publicado no BMC Neurol (2020)

Sultiame pharmacokinetic profile in plasma and erythrocytes after single oral doses: A pilot study in healthy volunteers

Por Dao, Kim, Thoueille, Paul, Decosterd, Laurent A., Mercier, Thomas, Guidi, Monia, Bardinet, Carine, Lebon, Sébastien, Choong, Eva, Castang, Arnaud, Guittet, Catherine, Granier, Luc‐André, Buclin, Thierry
Publicado no Pharmacol Res Perspect (2020)

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Por Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien
Publicado em 2012

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Por D’Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M., Faucett, W. Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel J. R. A., David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P., Grant, Ellen, Hunter, Jill V., Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E., Keren, Boris, Lacombe, Didier, Caignec, Cédric Le, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J., Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A., Spence, Sarah J., Steinman, Kyle J., Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H., Ledbetter, David H., van den Bree, Marianne B. M., Beckmann, Jacques S., Spiro, John E., Reymond, Alexandre, Jacquemont, Sébastien, Chung, Wendy K.
Publicado no JAMA Psychiatry (2016)

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

Por Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Bernardina, Bernardo Dalla, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, d'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo
Publicado no Neurology (2021)