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GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Ragnarsson L, Zhang Z, Das SS, Tran P, Andersson Å, des Portes V, Desmettre Altuzarra C, Remerand G, Labalme A, Chatron N, Sanlaville D, Lesca G, Anggono V, Vetter I, Keramidas A. Ragnarsson L, et al. Among authors: des portes v. Epilepsia. 2023 Dec;64(12):3377-3388. doi: 10.1111/epi.17776. Epub 2023 Oct 17. Epilepsia. 2023. PMID: 37734923 Free PMC article.
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Curie A, Lion-François L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, Brun-Laurisse A, Gheurbi F, Buchy M, Halep H, Cheillan D, Mercier C, Brassier A, Desnous B, Kassai B, De Lonlay P, Des Portes V. Curie A, et al. Among authors: des portes v. Neurology. 2024 Apr 23;102(8):e209243. doi: 10.1212/WNL.0000000000209243. Epub 2024 Mar 26. Neurology. 2024. PMID: 38531017
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.
Sideropoulos V, Van Herwegen J, Meuleman B, Alessandri M, Alnemary FM, Rad JA, Lavenex PAB, Bolshakov N, Bölte S, Buffle P, Cai RY, Campos R, Chirita-Emandi A, Costa AP, Costanzo F, Des Portes V, Dukes D, Faivre L, Famelart N, Fisher MH, Gamaiunova L, Giannadou A, Gupta R, Hardan AY, Houdayer-Robert F, Hrncirova L, Iaochite RT, Jariabkova K, Klein-Tasman BP, Lavenex P, Malik S, Mari F, Martinez-Castilla P, Menghini D, Nuske HJ, Palikara O, Papon A, Pegg RS, Pouretemad H, Poustka L, Prosetzky I, Renieri A, Rhodes SM, Riby DM, Rossi M, Sadeghi S, Su X, Tai C, Tran M, Tynan F, Uljarević M, Van Hecke AV, Veiga G, Verloes A, Vicari S, Werneck-Rohrer SG, Zander E, Samson AC. Sideropoulos V, et al. Among authors: des portes v. J Glob Health. 2023 Jul 28;13:04081. doi: 10.7189/jogh.13.04081. J Glob Health. 2023. PMID: 37497751 Free PMC article.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. Among authors: des portes v. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. Among authors: des portes v. J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1. J Med Genet. 2023. PMID: 36319078
[Psychomotor development of infants and children...].
Le Goff L, Mamimoue É, Pelluet A, Des Portes V, Fourneret P. Le Goff L, et al. Among authors: des portes v. Rev Prat. 2022 Jan;72(1):101-104. Rev Prat. 2022. PMID: 35258264 French. No abstract available.
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: des portes v. 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
158 results