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55 results

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Page 1
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Eteplirsen for the treatment of Duchenne muscular dystrophy.
Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, Alfano L, Gomez AM, Lewis S, Kota J, Malik V, Shontz K, Walker CM, Flanigan KM, Corridore M, Kean JR, Allen HD, Shilling C, Melia KR, Sazani P, Saoud JB, Kaye EM; Eteplirsen Study Group. Mendell JR, et al. Ann Neurol. 2013 Nov;74(5):637-47. doi: 10.1002/ana.23982. Epub 2013 Sep 10. Ann Neurol. 2013. PMID: 23907995 Free article. Clinical Trial.
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group. Knight EMP, et al. Lancet Neurol. 2022 May;21(5):417-427. doi: 10.1016/S1474-4422(22)00077-1. Lancet Neurol. 2022. PMID: 35429480 Clinical Trial.
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group. McDonald CM, et al. Among authors: heydemann p. Lancet. 2017 Sep 23;390(10101):1489-1498. doi: 10.1016/S0140-6736(17)31611-2. Epub 2017 Jul 17. Lancet. 2017. PMID: 28728956 Clinical Trial.
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy.
Muntoni F, Byrne BJ, McMillan HJ, Ryan MM, Wong BL, Dukart J, Bansal A, Cosson V, Dreghici R, Guridi M, Rabbia M, Staunton H, Tirucherai GS, Yen K, Yuan X, Wagner KR; Taldefgrobep Alfa Study Group. Muntoni F, et al. Neurol Ther. 2024 Feb;13(1):183-219. doi: 10.1007/s40120-023-00570-w. Epub 2024 Jan 8. Neurol Ther. 2024. PMID: 38190001 Free PMC article.
Building Programs to Eradicate Toxoplasmosis Part III: Epidemiology and Risk Factors.
Felín MS, Wang K, Raggi C, Moreira A, Pandey A, Grose A, Caballero Z, Rengifo-Herrera C, Ramirez M, Moossazadeh D, Castro C, Montalvo JLS, Leahy K, Zhou Y, Clouser FA, Siddiqui M, Leong N, Goodall P, Michalowski M, Ismail M, Christmas M, Schrantz S, Norero X, Estripeaut D, Ellis D, Ashi K, Dovgin S, Dixon A, Li X, Begeman I, Heichman S, Lykins J, Villalobos-Cerrud D, Fabrega L, Mendivil C, Quijada MR, Fernández-Pirla S, de La Guardia V, Wong D, de LadrónGuevara M, Flores C, Borace J, García A, Caballero N, de Saez MTM, Politis M, Ross S, Dogra M, Dhamsania V, Graves N, Kirchberg M, Mathur K, Aue A, Restrepo CM, Llanes A, Guzman G, Rebollon A, Boyer K, Heydemann P, Noble AG, Swisher C, Rabiah P, Withers S, Hull T, Su C, Blair M, Latkany P, Mui E, Vasconcelos-Santos DV, Villareal A, Perez A, Galvis CAN, Montes MV, Perez NIC, Ramirez M, Chittenden C, Wang E, Garcia-López LL, Muñoz-Ortiz J, Rivera-Valdivia N, Bohorquez-Granados MC, de-la-Torre GC, Padrieu G, Hernandez JDV, Celis-Giraldo D, Acosta Dávila JA, Torres E, Oquendo MM, Arteaga-Rivera JY, Nicolae D, Rzhetsky A, Roizen N, Stillwaggon E, Sawers L, Peyron F, Wallon M, Chapey E, Levigne P, Charter C, De Frias M, Montoya J,… See abstract for full author list ➔ Felín MS, et al. Among authors: heydemann p. Curr Pediatr Rep. 2022 Sep;10(3):109-124. doi: 10.1007/s40124-022-00265-0. Epub 2022 Jun 22. Curr Pediatr Rep. 2022. PMID: 37744780 Free PMC article.
Building Programs to Eradicate Toxoplasmosis Part I: Introduction and Overview.
Felín MS, Wang K, Moreira A, Grose A, Leahy K, Zhou Y, Clouser FA, Siddiqui M, Leong N, Goodall P, Michalowski M, Ismail M, Christmas M, Schrantz S, Caballero Z, Norero X, Estripeaut D, Ellis D, Raggi C, Castro C, Moossazadeh D, Ramirez M, Pandey A, Ashi K, Dovgin S, Dixon A, Li X, Begeman I, Heichman S, Lykins J, Villalobos-Cerrud D, Fabrega L, Montalvo JLS, Mendivil C, Quijada MR, Fernández-Pirla S, de La Guardia V, Wong D, de Guevara ML, Flores C, Borace J, García A, Caballero N, Rengifo-Herrera C, de Saez MTM, Politis M, Wroblewski K, Karrison T, Ross S, Dogra M, Dhamsania V, Graves N, Kirchberg M, Mathur K, Aue A, Restrepo CM, Llanes A, Guzman G, Rebellon A, Boyer K, Heydemann P, Noble AG, Swisher C, Rabiah P, Withers S, Hull T, Su C, Blair M, Latkany P, Mui E, Vasconcelos-Santos DV, Villareal A, Perez A, Galvis CAN, Montes MV, Perez NIC, Ramirez M, Chittenden C, Wang E, Garcia-López LL, Muñoz-Ortiz J, Rivera-Valdivia N, Bohorquez-Granados MC, de-la-Torre GC, Padrieu G, Hernandez JDV, Celis-Giraldo D, Dávila JAA, Torres E, Oquendo MM, Arteaga-Rivera JY, Nicolae DL, Rzhetsky A, Roizen N, Stillwaggon E, Sawers L, Peyron F, Wallon M, Chapey E, Levigne P, Charter C, De Fri… See abstract for full author list ➔ Felín MS, et al. Among authors: heydemann p. Curr Pediatr Rep. 2022;10(3):57-92. doi: 10.1007/s40124-022-00269-w. Epub 2022 Aug 22. Curr Pediatr Rep. 2022. PMID: 36034212 Free PMC article. Review.
ALOX12 in human toxoplasmosis.
Witola WH, Liu SR, Montpetit A, Welti R, Hypolite M, Roth M, Zhou Y, Mui E, Cesbron-Delauw MF, Fournie GJ, Cavailles P, Bisanz C, Boyer K, Withers S, Noble AG, Swisher CN, Heydemann PT, Rabiah P, Muench SP, McLeod R. Witola WH, et al. Among authors: heydemann pt. Infect Immun. 2014 Jul;82(7):2670-9. doi: 10.1128/IAI.01505-13. Epub 2014 Mar 31. Infect Immun. 2014. PMID: 24686056 Free PMC article.
The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization.
Collins MP, Johnson MC, Ryther RC, Weisenberg JL, Heydemann PT, Buhrfiend CM, Scott WA, Armstrong DMM, Kern HM, Nguyen HH. Collins MP, et al. Among authors: heydemann pt. Cardiol Res. 2023 Dec;14(6):446-452. doi: 10.14740/cr1580. Epub 2023 Nov 3. Cardiol Res. 2023. PMID: 38187509 Free PMC article.
55 results