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Year Number of Results
1889 1
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1995 1
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2002 1
2003 1
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2008 1
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37 results

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Page 1
Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1.
Kumari P, Sullivan LM, Li Z, Parker Conquest E, Cornforth E, Jayakumar R, Hu N, Alexander Sizemore J, McKee BB, Kitchen RR, González-Pérez P, Linville C, Castro K, Gutierrez H, Samaan S, Townsend EL, Darras BT, Rutkove SB, Iannaccone ST, Clemens PR, Puwanant A, Das S, Wheeler TM. Kumari P, et al. Among authors: townsend el. Nat Commun. 2025 Mar 5;16(1):2158. doi: 10.1038/s41467-025-56479-5. Nat Commun. 2025. PMID: 40044661 Free PMC article.
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR. Eichler F, et al. Among authors: townsend el. Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15. Nat Med. 2025. PMID: 40817303 Free PMC article. Clinical Trial.
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R. Nagy A, et al. Among authors: townsend el. Hum Gene Ther. 2024 Jan;36(1-2):45-56. doi: 10.1089/hum.2024.168. Epub 2024 Dec 4. Hum Gene Ther. 2024. PMID: 39628365 Free PMC article.
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ; Project Cure SMA Investigator's Network. Krosschell KJ, et al. Among authors: townsend el. Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18. Muscle Nerve. 2018. PMID: 28833236 Clinical Trial.
37 results