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Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di Meo I. Cavestro C, et al. Among authors: barth m. Ann Clin Transl Neurol. 2024 May 15. doi: 10.1002/acn3.52079. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38750253
Body size interacts with the structure of the central nervous system: A multi-center in vivo neuroimaging study.
Labounek R, Bondy MT, Paulson AL, Bédard S, Abramovic M, Alonso-Ortiz E, Atcheson NT, Barlow LR, Barry RL, Barth M, Battiston M, Büchel C, Budde MD, Callot V, Combes A, Leener B, Descoteaux M, Loureiro de Sousa P, Dostál M, Doyon J, Dvorak AV, Eippert F, Epperson KR, Epperson KS, Freund P, Finsterbusch J, Foias A, Fratini M, Fukunaga I, Gandini Wheeler-Kingshott CAM, Germani G, Gilbert G, Giove F, Grussu F, Hagiwara A, Henry PG, Horák T, Hori M, Joers JM, Kamiya K, Karbasforoushan H, Keřkovský M, Khatibi A, Kim JW, Kinany N, Kitzler H, Kolind S, Kong Y, Kudlička P, Kuntke P, Kurniawan ND, Kusmia S, Laganà MM, Laule C, Law CSW, Leutritz T, Liu Y, Llufriu S, Mackey S, Martin AR, Martinez-Heras E, Mattera L, O'Grady KP, Papinutto N, Papp D, Pareto D, Parrish TB, Pichiecchio A, Prados F, Rovira À, Ruitenberg MJ, Samson RS, Savini G, Seif M, Seifert AC, Smith AK, Smith SA, Smith ZA, Solana E, Suzuki Y, Tackley GW, Tinnermann A, Valošek J, Van De Ville D, Yiannakas MC, Weber KA, Weiskopf N, Wise RG, Wyss PO, Xu J, Cohen-Adad J, Lenglet C, Nestrašil I. Labounek R, et al. Among authors: barth m. bioRxiv [Preprint]. 2024 May 1:2024.04.29.591421. doi: 10.1101/2024.04.29.591421. bioRxiv. 2024. PMID: 38746371 Free PMC article. Preprint.
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 May 10:S0002-9297(24)00129-0. doi: 10.1016/j.ajhg.2024.04.014. Online ahead of print. Am J Hum Genet. 2024. PMID: 38744284
Neurochemical predictors of generalised learning induced by brain stimulation and training.
Ehrhardt SE, Wards Y, Rideaux R, Marjańska M, Jin J, Cloos MA, Deelchand DK, Zöllner HJ, Saleh MG, Hui SCN, Ali T, Shaw TB, Barth M, Mattingley JB, Filmer HL, Dux PE. Ehrhardt SE, et al. Among authors: barth m. J Neurosci. 2024 Mar 26:e1676232024. doi: 10.1523/JNEUROSCI.1676-23.2024. Online ahead of print. J Neurosci. 2024. PMID: 38531634
667 results