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Page 1
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Milon V, Malinge MC, Blanluet M, Tessarech M, Battault C, Prestwich S, Vary B, Gueracher P, Legoff L, Barth M, Houdayer C, Guichet A, Rousseau A, Bonneau D, Procaccio V, Bris C, Colin E. Milon V, et al. Among authors: barth m. Eur J Hum Genet. 2024 Dec;32(12):1590-1598. doi: 10.1038/s41431-024-01631-w. Epub 2024 May 28. Eur J Hum Genet. 2024. PMID: 38806662 Review.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B; EuroEPINOMICS-RES Dravet working group; Gunning B, Hardies K, Jennesson M, Legoff L, Linnankivi T, Prouteau C, Smal N, Spodenkiewicz M, Toelle SP, Van Gassen K, Van Paesschen W, Verbeek N, Ziegler A, Zweier M, Horn AHC, Sticht H, Lerche H, Weckhuysen S, Strauß O, Rauch A. Yang F, et al. Among authors: barth m. Am J Hum Genet. 2024 Jun 6;111(6):1184-1205. doi: 10.1016/j.ajhg.2024.04.014. Epub 2024 May 13. Am J Hum Genet. 2024. PMID: 38744284 Free PMC article.
Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Milon V, Malinge MC, Blanluet M, Tessarech M, Battault C, Prestwich S, Vary B, Gueracher P, Legoff L, Barth M, Houdayer C, Guichet A, Rousseau A, Bonneau D, Procaccio V, Bris C, Colin E. Milon V, et al. Among authors: barth m. Eur J Hum Genet. 2024 Jul 22. doi: 10.1038/s41431-024-01658-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39039176 No abstract available.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: barth m. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: barth m. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. Update in: Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077 PMID: 37398376 Free PMC article. Updated. Preprint.
Biodiversity impacts of the 2019-2020 Australian megafires.
Driscoll DA, Macdonald KJ, Gibson RK, Doherty TS, Nimmo DG, Nolan RH, Ritchie EG, Williamson GJ, Heard GW, Tasker EM, Bilney R, Porch N, Collett RA, Crates RA, Hewitt AC, Pendall E, Boer MM, Gates J, Boulton RL, Mclean CM, Groffen H, Maisey AC, Beranek CT, Ryan SA, Callen A, Hamer AJ, Stauber A, Daly GJ, Gould J, Klop-Toker KL, Mahony MJ, Kelly OW, Wallace SL, Stock SE, Weston CJ, Volkova L, Black D, Gibb H, Grubb JJ, McGeoch MA, Murphy NP, Lee JS, Dickman CR, Neldner VJ, Ngugi MR, Miritis V, Köhler F, Perri M, Denham AJ, Mackenzie BDE, Reid CAM, Rayment JT, Arriaga-Jiménez A, Hewins MW, Hicks A, Melbourne BA, Davies KF, Bitters ME, Linley GD, Greenville AC, Webb JK, Roberts B, Letnic M, Price OF, Walker ZC, Murray BR, Verhoeven EM, Thomsen AM, Keith D, Lemmon JS, Ooi MKJ, Allen VL, Decker OT, Green PT, Moussalli A, Foon JK, Bryant DB, Walker KL, Bruce MJ, Madani G, Tscharke JL, Wagner B, Nitschke CR, Gosper CR, Yates CJ, Dillon R, Barrett S, Spencer EE, Wardle GM, Newsome TM, Pulsford SA, Singh A, Roff A, Marsh KJ, Mcdonald K, Howell LG, Lane MR, Cristescu RH, Witt RR, Cook EJ, Grant F, Law BS, Seddon J, Berris KK, Shofner RM, Barth M, Welz T, Foster A, Hancock D, Beitzel … See abstract for full author list ➔ Driscoll DA, et al. Among authors: barth m. Nature. 2024 Nov;635(8040):898-905. doi: 10.1038/s41586-024-08174-6. Epub 2024 Nov 13. Nature. 2024. PMID: 39537920 Free PMC article.
Policy as normative influence? On the relationship between parental leave policy and social norms in gender division of childcare across 48 countries.
Schindler S, Schuster C, Olsson MIT, Froehlich L, Hübner AK, Block K, Van Laar C, Schmader T, Meeussen L, van Grootel S, Croft A, Sun MS, Ainsaar M, Aarntzen L, Adamus M, Anderson J, Atkinson C, Avicenna M, Bąbel P, Barth M, Benson-Greenwald T, Maloku E, Berent J, Bergsieker HB, Biernat M, Birneanu A, Bodinaku B, Bosak J, Bosson J, Branković M, Burkauskas J, Čavojová V, Cheryan S, Choi E, Choi I, Contreras-Ibáñez CC, Coogan A, Danyliuk I, Dar-Nimrod I, Dasgupta N, de Lemus S, Devos T, Diab M, Diekman AB, Efremova M, Eisner L, Eller A, Erentaite R, Fedáková D, Franc R, Gartzia L, Gavreliuc A, Gavreliuc D, Gecaite-Stonciene J, Germano AL, Giovannelli I, Gismondi Diaz R, Gitikhmayeva L, Gizaw AM, Gjoneska B, González OM, González R, Grijalva ID, Güngör D, Gustafsson Sendén M, Hall W, Harb C, Hassan B, Hässler T, Hawi DR, Henningsen L, Hoppe A, Ishii K, Jakšić I, Jasini A, Jurkevičienė J, Kelmendi K, Kirby TA, Kitakaji Y, Kosakowska-Berezecka N, Kozytska I, Kulich C, Kundtová-Klocová E, Kunuroglu F, Aidy CL, Lee A, Lindqvist A, López-López W, Luzvinda L, Maricchiolo F, Martinot D, McNamara RA, Meister A, Melka TL, Mickuviene N, Miranda-Orrego MI, Mkamwa T, Morandini J, Morton T… See abstract for full author list ➔ Schindler S, et al. Among authors: barth m. Br J Soc Psychol. 2024 Oct 23. doi: 10.1111/bjso.12806. Online ahead of print. Br J Soc Psychol. 2024. PMID: 39439425
Targeting Sphingosine-1-Phosphate Signaling to Prevent the Progression of Aortic Valve Disease.
Benkhoff M, Barcik M, Mourikis P, Dahlmanns J, Kahmann P, Wollnitzke P, Hering M, Huckenbeck T, Hoppe J, Semleit N, Deister-Jonas J, Zako S, Seel J, Coman C, Barth M, Cramer M, Helten C, Wildeis L, Hu H, Al-Kassis G, Metzen D, Hesse J, Weber J, Dannenberg L, Akhyari P, Lichtenberg A, Quast C, Gerdes N, Zeus T, Borst O, Kelm M, Petzold T, Ahrends R, Levkau B, Polzin A. Benkhoff M, et al. Among authors: barth m. Circulation. 2024 Oct 21. doi: 10.1161/CIRCULATIONAHA.123.067270. Online ahead of print. Circulation. 2024. PMID: 39429140
[Identification of psychosocially stressed families by practice pediatricians : Results on the effectiveness of the PATH (Pediatric Attention To Help) intervention].
Schlett C, Metzner G, Höhn C, Giesler JM, Barth M, Kaier K, van Staa J, Horstmann S, Jünemann S, Siebolds M, Renner I, Glattacker M. Schlett C, et al. Among authors: barth m. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2024 Dec;67(12):1394-1404. doi: 10.1007/s00103-024-03962-x. Epub 2024 Oct 16. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2024. PMID: 39414628 German.
684 results