Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

od Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile
Wydane w Mol Genet Metab Rep (2019)

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

od Dorboz, Imen, Dumay-Odelot, Hélene, Boussaid, Karima, Bouyacoub, Yosra, Barreau, Pauline, Samaan, Simon, Jmel, Haifa, Eymard-Pierre, Eleonore, Cances, Claude, Bar, Céline, Poulat, Anne-Lise, Rousselle, Christophe, Renaldo, Florence, Elmaleh- Bergès, Monique, Teichmann, Martin, Boespflug-Tanguy, Odile
Wydane w Neurol Genet (2018)

Phenotypic and imaging spectrum associated with WDR45

od Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo, Helbig, Ingo, Vanderver, Adeline
Wydane w Pediatr Neurol (2020)

Disease Course and Treatment Responses in Children With Relapsing Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease

od Hacohen, Yael, Wong, Yu Yi, Lechner, Christian, Jurynczyk, Maciej, Wright, Sukhvir, Konuskan, Bahadir, Kalser, Judith, Poulat, Anne Lise, Maurey, Helene, Ganelin-Cohen, Esther, Wassmer, Evangeline, Hemingway, Chery, Forsyth, Rob, Hennes, Eva Maria, Leite, M. Isabel, Ciccarelli, Olga, Anlar, Banu, Hintzen, Rogier, Marignier, Romain, Palace, Jacqueline, Baumann, Matthias, Rostásy, Kevin, Neuteboom, Rinze, Deiva, Kumaran, Lim, Ming
Wydane w JAMA Neurol (2018)

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

od Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa
Wydane w Brain (2020)

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

od Johannesen, Katrine M., Mitter, Diana, Janowski, Robert, Roth, Christian, Toulouse, Joseph, Poulat, Anne-Lise, Ville, Dorothee M., Chatron, Nicolas, Brilstra, Eva, Geleijns, Karin, Born, Alfred Peter, McLean, Scott, Nugent, Kimberly, Baynam, Gareth, Poulton, Cathryn, Dreyer, Lauren, Gration, Dylan, Schulz, Solveig, Dieckmann, Andrea, Helbig, Katherine L., Merkenschlager, Andreas, Jamra, Rami, Finck, Anja, Gardella, Elena, Hjalgrim, Helle, Mirzaa, Ghayda, Brancati, Francesco, Bierhals, Tatjana, Denecke, Jonas, Hempel, Maja, Lemke, Johannes R., Rubboli, Guido, Muschke, Petra, Guerrini, Renzo, Vetro, Annalisa, Niessing, Dierk, Lesca, Gaetan, Møller, Rikke S.
Wydane w Neurol Genet (2019)