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Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Dang UJ, Damsker JM, Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans NM, Haberlová J, Straub V, Mengle-Gaw L, Schwartz BD, Harper A, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster RI, Mcmillan HJ, Kuntz N, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez JJ, Nascimento-Osorio A, Niks EH, De Groot IJM, Katsalouli M, Van Den Anker JN, Ward LM, Leinonen M, D'Alessandro AL, Hoffman EP. Dang UJ, et al. Among authors: smith ec. Neurology. 2024 Mar 12;102(5):e208112. doi: 10.1212/WNL.0000000000208112. Epub 2024 Feb 9. Neurology. 2024. PMID: 38335499 Free PMC article. Clinical Trial.
Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy.
Conrado DJ, Larkindale J, Berg A, Hill M, Burton J, Abrams KR, Abresch RT, Bronson A, Chapman D, Crowther M, Duong T, Gordish-Dressman H, Harnisch L, Henricson E, Kim S, McDonald CM, Schmidt S, Vong C, Wang X, Wong BL, Yong F, Romero K; Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC). Conrado DJ, et al. J Pharmacokinet Pharmacodyn. 2019 Oct;46(5):441-455. doi: 10.1007/s10928-019-09642-7. Epub 2019 May 24. J Pharmacokinet Pharmacodyn. 2019. PMID: 31127458
Virtual Screening of a Chemically Diverse "Superscaffold" Library Enables Ligand Discovery for a Key GPCR Target.
Grotsch K, Sadybekov AV, Hiller S, Zaidi S, Eremin D, Le A, Liu Y, Smith EC, Illiopoulis-Tsoutsouvas C, Thomas J, Aggarwal S, Pickett JE, Reyes C, Picazo E, Roth BL, Makriyannis A, Katritch V, Fokin VV. Grotsch K, et al. Among authors: smith ec. ACS Chem Biol. 2024 Apr 19;19(4):866-874. doi: 10.1021/acschembio.3c00602. Epub 2024 Apr 10. ACS Chem Biol. 2024. PMID: 38598723
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT, Liu SW, Francescatto L, Behura A, Anneling M, Jackson DG, Deak KL, Hornik CD, ElMallah MK, Pizoli CE, Smith EC, Tan KGQ, McDonald MT. Cocanougher BT, et al. Among authors: smith ec. HGG Adv. 2024 Apr 1;5(3):100288. doi: 10.1016/j.xhgg.2024.100288. Online ahead of print. HGG Adv. 2024. PMID: 38566418 Free PMC article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
394 results