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

nork Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien
Argitaratua izan da BMC Neurol (2020)

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

nork 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
Argitaratua izan da Pharmacol Res Perspect (2020)

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations

nork Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐Valle, Amarilis, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thomas, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E.M., Bertini, Enrico S., Van der Knaap, Marjo S.
Argitaratua izan da Neurol Genet (2021)

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

nork 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
Argitaratua 2012

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

nork 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.
Argitaratua izan da JAMA Psychiatry (2016)

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

nork 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
Argitaratua izan da Neurology (2021)