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863 results

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Page 1
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.
Bloomfield M, Lautarescu A, Heraty S, Douglas S, Violland P, Plas R, Ghosh A, Van den Bosch K, Eaton E, Absoud M, Battini R, Blázquez Hinojosa A, Bolshakova N, Bölte S, Bonanni P, Borg J, Calderoni S, Calvo Escalona R, Castelo-Branco M, Castro-Fornieles J, Caro P, Cliquet F, Danieli A, Delorme R, Elia M, Hempel M, Leblond CS, Madeira N, McAlonan G, Milone R, Molloy CJ, Mouga S, Montiel V, Pina Rodrigues A, Schaaf CP, Serrano M, Tammimies K, Tye C, Vigevano F, Oliveira G, Mazzone B, O'Neill C, Pender J, Romero V, Tillmann J, Oakley B, Murphy DGM, Gallagher L, Bourgeron T, Chatham C, Charman T. Bloomfield M, et al. Among authors: elia m. BMJ Open. 2024 Jun 4;14(6):e080746. doi: 10.1136/bmjopen-2023-080746. BMJ Open. 2024. PMID: 38834317 Free PMC article.
The Italian registry for patients with Prader-Willi syndrome.
Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D. Salvatore M, et al. Among authors: elia m. Orphanet J Rare Dis. 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5. Orphanet J Rare Dis. 2023. PMID: 36793093 Free PMC article.
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models.
Ropert B, Bannwarth S, Genin EC, Vaillant-Beuchot L, Lacas-Gervais S, Hounoum BM, Bernardin A, Dinh N, Mauri-Crouzet A, D'Elia MA, Augé G, Lespinasse F, Di Giorgio A, Meira W, Bonnefoy N, Monassier L, Schiff M, Sago L, Kilinc D, Brau F, Redeker V, Bohl D, Tribouillard-Tanvier D, Procaccio V, Azoulay S, Ricci JE, Delahodde A, Paquis-Flucklinger V. Ropert B, et al. Among authors: d elia ma. Brain. 2024 Oct 30:awae348. doi: 10.1093/brain/awae348. Online ahead of print. Brain. 2024. PMID: 39478664
863 results