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Page 1
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Brooker SM, Novelli M, Coukos R, Prakash N, Kamel WA, Amengual-Gual M, Anheim M, Barcia G, Bardakjian T, Baur F, Berweck S, Bölsterli BK, Brugger M, Cassini T, Chatron N, Corner B, Dafsari HS, de Sainte Agathe JM, Ellis CA, Ezell KM, Foucard C, Frucht SJ, Garcia MC, Gill D, Guimier A, Hamid R, Heine-Suñer D, Herkenrath P, Hully M, Isaias IU, Januel L, Laurencin C, Laut T, Lavillaureix A, Lesca G, Lesieur-Sebellin M, Magistrelli L, Marelli C, Mefford HC, Mendelsohn BA, Mercimek-Andrews S, Miller C, Mohammad SS, Morgante F, Nandipati S, Opladen T, Padmanaban M, Pauni M, Pezzoli G, Piton A, Ramond F, Riboldi GM, Rougeot-Jung C, Santos-Simarro F, Scheffer IE, Serari N, Stahl CM, Kung AS, Tarongí Sanchez S, Thauvin-Robinet C, Till M, Tranchant C, Troedson C, Tropea TF, Vanakker O, Vega P, Wiese ML, Wieshmann U, Williams LJ, Wirth T, Zech M, Zempel H, Roze E, Leuzzi V, Galosi S, Fung VSC, Carvill G, Krainc D, Gerard E, Mencacci NE. Brooker SM, et al. Among authors: chatron n. Ann Neurol. 2025 Jul 1. doi: 10.1002/ana.27272. Online ahead of print. Ann Neurol. 2025. PMID: 40590478
Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis.
Verlut I, Guernouche S, Rossi M, Szathmari A, Beuriat PA, Chatron N, Chauvel-Picard J, Mottolese C, Monin P, Vinchon M, Collet C, Di Rocco F. Verlut I, et al. Among authors: chatron n. J Craniofac Surg. 2025 Jun 9. doi: 10.1097/SCS.0000000000011461. Online ahead of print. J Craniofac Surg. 2025. PMID: 40488688
Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.
Pierret C, Riccardi F, Neveu J, Alesandrini M, Altuzarra C, Boulogne S, Carneiro M, Chatron N, Isidor B, Lacan L, Lesca G, Nguyen S, Rodriguez D, Souci S, Valence S, Villard L, Milh M, Desnous B. Pierret C, et al. Among authors: chatron n. Epilepsia. 2025 Jun 9. doi: 10.1111/epi.18495. Online ahead of print. Epilepsia. 2025. PMID: 40488543
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, Harris M… See abstract for full author list ➔ Nava C, et al. Among authors: chatron n. Nat Genet. 2025 Jun;57(6):1374-1388. doi: 10.1038/s41588-025-02184-4. Epub 2025 May 16. Nat Genet. 2025. PMID: 40379786 Free PMC article.
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Pérez Baca MDR, Palomares-Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Zhao X, Saeidian AH, Owen NM, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Vleminckx K, Naert T, Syx D, Callewaert B, Vergult S. Pérez Baca MDR, et al. Am J Hum Genet. 2025 Jun 5;112(6):1388-1414. doi: 10.1016/j.ajhg.2025.04.008. Epub 2025 May 13. Am J Hum Genet. 2025. PMID: 40367947
Infectious potential and circulation of SARS-CoV-2 in wild rats.
Beissat K, Lattard V, Picard-Meyer E, Fafournoux A, Soro SD, Servat A, Vincent-Hubert F, Boué F, Chatron N, Monchâtre-Leroy E, Wasniewski M. Beissat K, et al. Among authors: chatron n. PLoS One. 2025 May 12;20(5):e0316882. doi: 10.1371/journal.pone.0316882. eCollection 2025. PLoS One. 2025. PMID: 40354427 Free PMC article.
Insights from stereoelectroencephalography in KCNT1-related focal epilepsy suggest a multifocal and migrating epileptogenic network.
Gokce-Samar Z, Lesca G, Bourgeois-Vionnet J, Isnard J, Boulogne S, Valton L, Catenoix H, Marcon-Mohsen C, Ostrowsky-Coste K, Chatron N, Guenot M, Rheims S, Montavont A. Gokce-Samar Z, et al. Among authors: chatron n. Epilepsia. 2025 Jun;66(6):e90-e97. doi: 10.1111/epi.18425. Epub 2025 Apr 22. Epilepsia. 2025. PMID: 40261684 Free PMC article.
136 results