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201 results

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Page 1
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Epilepsia. 2024 Mar 16. doi: 10.1111/epi.17939. Online ahead of print. Epilepsia. 2024. PMID: 38491959
International Care programs for Pediatric Post-COVID Condition (Long COVID) and the way forward.
Brackel CLH, Noij LCE, Vijverberg SJH, Legghe CL, Maitland-van der Zee AH, van Goudoever JB, Buonsenso D, Munblit D, Sigfrid L, McFarland S, Anmyr L, Ashkenazi-Hoffnung L, Bellinat APN, Dias NLS, Edwards A, Fashina T, Juraški RG, Gonçalves ALN, Hansted E, Herczeg V, Hertting O, Jankauskaite LN, Kaswandani N, Kevalas R, Krivácsy P, Lorenz M, Malone LA, McVoy M, Miller DW, Morrow AK, Nugawela MD, Oliveira CR, Oliveira PRS, Osmanov IM, Overmars IM, Paintsil E, Pinto Pereira SM, Prawira Y, Putri ND, Ramos RCF, Rasche M, Ryd-Rinder M, De Rose C, Samitova E, Jovanović TS, Say D, Scott JT, Shachar-Lavie I, Shafran R, Shmueli E, Snipaitiene A, Stephenson T, Ténai N, Tosif S, Turkalj M, Valentini P, Vasconcelos LRS, Villard L, Vilser D, Hashimoto S, Terheggen-Lagro SWJ. Brackel CLH, et al. Among authors: villard l. Pediatr Res. 2024 Jan 29. doi: 10.1038/s41390-023-03015-0. Online ahead of print. Pediatr Res. 2024. PMID: 38287106
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Among authors: villard l. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Ultrasound-induced seizures in a mouse model of KCNQ2-NEO-DEE.
Brun L, Borloz E, Felix MS, Louis Durand J, Villard L. Brun L, et al. Among authors: villard l. Epilepsy Res. 2023 Jul;193:107160. doi: 10.1016/j.eplepsyres.2023.107160. Epub 2023 May 3. Epilepsy Res. 2023. PMID: 37187037 Free article.
The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: villard l. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. Leitão E, et al. Among authors: villard l. Nat Commun. 2022 Nov 2;13(1):6570. doi: 10.1038/s41467-022-34264-y. Nat Commun. 2022. PMID: 36323681 Free PMC article.
Mouse models of Kcnq2 dysfunction.
Brun L, Viemari JC, Villard L. Brun L, et al. Among authors: villard l. Epilepsia. 2022 Nov;63(11):2813-2826. doi: 10.1111/epi.17405. Epub 2022 Sep 27. Epilepsia. 2022. PMID: 36047730 Free PMC article. Review.
201 results