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Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS. Johannesen KM, et al. Among authors: poulat al. Neurol Genet. 2019 Dec 10;5(6):e373. doi: 10.1212/NXG.0000000000000373. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042906 Free PMC article.
SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.
Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, Raghavan A, Poulat AL, Møller RS, Thuresson AC, Balasubramanian M. Yates TM, et al. Among authors: poulat al. Eur J Paediatr Neurol. 2018 Nov;22(6):1095-1102. doi: 10.1016/j.ejpn.2018.08.002. Epub 2018 Aug 27. Eur J Paediatr Neurol. 2018. PMID: 30194038 Free article.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL; EuroEpinomics-RES consortium AR working group; Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Chatron N, et al. Among authors: poulat al. Brain. 2020 May 1;143(5):1447-1461. doi: 10.1093/brain/awaa085. Brain. 2020. PMID: 32282878 Free PMC article.
CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.
Garel P, Lesca G, Ville D, Poulat AL, Chatron N, Sanlaville D, Des Portes V, Arzimanoglou A, Lion-François L. Garel P, et al. Among authors: poulat al. Eur J Paediatr Neurol. 2022 Mar;37:98-104. doi: 10.1016/j.ejpn.2022.01.015. Epub 2022 Jan 29. Eur J Paediatr Neurol. 2022. PMID: 35182943
Phenotypic and Imaging Spectrum Associated With WDR45.
Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G, Linnankivi T, Laurencin C, Milh M, Perrine C, Schaaf CP, Poulat AL, Ville D, Hagelstrom T, Perry DL, Taft RJ, Goldstein A, Vossough A, Helbig I, Vanderver A. Adang LA, et al. Among authors: poulat al. Pediatr Neurol. 2020 Aug;109:56-62. doi: 10.1016/j.pediatrneurol.2020.03.005. Epub 2020 Mar 11. Pediatr Neurol. 2020. PMID: 32387008 Free PMC article.
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.
Faoucher M, Poulat AL, Chatron N, Labalme A, Schluth-Bolard C, Till M, Vianey-Saban C, Portes VD, Edery P, Sanlaville D, Lesca G, Acquaviva C. Faoucher M, et al. Among authors: poulat al. Mol Genet Metab Rep. 2019 Nov 1;21:100509. doi: 10.1016/j.ymgmr.2019.100509. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31720226 Free PMC article.
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G. Boutry-Kryza N, et al. Among authors: poulat al. Eur J Med Genet. 2015 Feb;58(2):51-8. doi: 10.1016/j.ejmg.2014.11.007. Epub 2014 Dec 11. Eur J Med Genet. 2015. PMID: 25497044
MOG antibody-related disorders: common features and uncommon presentations.
Cobo-Calvo Á, Ruiz A, D'Indy H, Poulat AL, Carneiro M, Philippe N, Durand-Dubief F, Deiva K, Vukusic S, Desportes V, Marignier R. Cobo-Calvo Á, et al. Among authors: poulat al. J Neurol. 2017 Sep;264(9):1945-1955. doi: 10.1007/s00415-017-8583-z. Epub 2017 Aug 2. J Neurol. 2017. PMID: 28770374
18 results