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Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Mengel E, et al. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34418116 Free PMC article. Clinical Trial.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Glucocorticoids with low-dose anti-IL1 anakinra rescue in severe non-ICU COVID-19 infection: A cohort study.
Borie R, Savale L, Dossier A, Ghosn J, Taillé C, Visseaux B, Jebreen K, Diallo A, Tesmoingt C, Morer L, Goletto T, Faucher N, Hajouji L, Neukirch C, Phillips M, Stelianides S, Bouadma L, Brosseau S, Ottaviani S, Pluvy J, Le Pluart D, Debray MP, Raynaud-Simon A, Descamps D, Khalil A, Timsit JF, Lescure FX, Descamps V, Papo T, Humbert M, Crestani B, Dieude P, Vicaut E, Zalcman G; Bichat & Kremlin-Bicêtre AP-HP COVID teams. Borie R, et al. PLoS One. 2020 Dec 16;15(12):e0243961. doi: 10.1371/journal.pone.0243961. eCollection 2020. PLoS One. 2020. PMID: 33326457 Free PMC article.
Proceedings of the 3rd Biennial Conference of the Society for Implementation Research Collaboration (SIRC) 2015: advancing efficient methodologies through community partnerships and team science : Seattle, WA, USA. 24-26 September 2015.
Lewis C, Darnell D, Kerns S, Monroe-DeVita M, Landes SJ, Lyon AR, Stanick C, Dorsey S, Locke J, Marriott B, Puspitasari A, Dorsey C, Hendricks K, Pierson A, Fizur P, Comtois KA, Palinkas LA, Chamberlain P, Aarons GA, Green AE, Ehrhart MG, Trott EM, Willging CE, Fernandez ME, Woolf NH, Liang SL, Heredia NI, Kegler M, Risendal B, Dwyer A, Young V, Campbell D, Carvalho M, Kellar-Guenther Y, Damschroder LJ, Lowery JC, Ono SS, Carlson KF, Cottrell EK, O’Neil ME, Lovejoy TL, Arch JJ, Mitchell JL, Lewis CC, Marriott BR, Scott K, Coldiron JS, Bruns EJ, Hook AN, Graham BC, Jordan K, Hanson RF, Moreland A, Saunders BE, Resnick HS, Stirman SW, Gutner CA, Gamarra J, Vogt D, Suvak M, Wachen JS, Dondanville K, Yarvis JS, Mintz J, Peterson AL, Borah EV, Litz BT, Molino A, McCaughan SY, Resick PA, Pandhi N, Jacobson N, Serrano N, Hernandez A, Schreiter EZ, Wietfeldt N, Karp Z, Pullmann MD, Lucenko B, Pavelle B, Uomoto JA, Negrete A, Cevasco M, Kerns SEU, Franks RP, Bory C, Miech EJ, Damush TM, Satterfield J, Satre D, Wamsley M, Yuan P, O’Sullivan P, Best H, Velasquez S, Barnett M, Brookman-Frazee L, Regan J, Stadnick N, Hamilton A, Lau A, Regan J, Hamilton A, Stadnick N, Barnett M, Lau A, Brookma… See abstract for full author list ➔ Lewis C, et al. Implement Sci. 2016 Jun 23;11 Suppl 1(Suppl 1):85. doi: 10.1186/s13012-016-0428-0. Implement Sci. 2016. PMID: 27357964 Free PMC article.
Kirchner A23: Structuring complex recommendations: Methods and general findings Thomas J. Waltz, Byron J. Powell, Matthew J. Chinman, Laura J. Damschroder, Jeffrey L. ...Kirchner A24: Implementing prolonged exposure for post-traumatic stress disorder in the Department of V …
Kirchner A23: Structuring complex recommendations: Methods and general findings Thomas J. Waltz, Byron J. Powell, Matthew J. Chinman, …