Select Citations
Gillan EM, Leiro B, Nagy A, Eichler F, Townsend EL. Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review. J Inherit Metab Dis. 2026 May;49(3):e70179. doi: 10.1002/jimd.70179. Review. PubMed PMID: 41944086.
Krosschell KJ, Dunaway Young S, Maczek E, Brown L, Hoffman K, Corbo Galli C, Muni Lofra R, Coratti G, Moore Burk M, Townsend EL, Kelley C, Weigel C, Civitello M, Kanner CH, McIntyre M, Nelson L, Rao V, Castro D, Farrar M, Kuntz NL, Apkon SD, Zolkipli-Cunningham Z, NBS-SMArt Working Group. Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA. J Neuromuscul Dis. 2026 Apr 7;:22143602261433638. doi: 10.1177/22143602261433638. [Epub ahead of print] PubMed PMID: 41944185.
Townsend EL, Kiefer M, Leiro B, Gillan E, Marion J, Khan A, Tavakkoli F. Measurement of Motor Function in Children With Canavan Disease: Concordance Between Remote and In-Person Assessments. Pediatr Neurol. 2026 May;178:110-117. doi: 10.1016/j.pediatrneurol.2026.02.008. Epub 2026 Feb 18. PubMed PMID: 41806495.
Sevagamoorthy A, Gavazzi F, Tashnim Z, Hong P, Vaia Y, Lee-Kirsch MA, Eleftheriou D, Beerepoot S, Hully M, Berry Kravis EM, Ventola P, Raspa M, Wheeler A, DeMauro SB, Glanzman AM, Townsend E, Duong T, Cusack S, Harrington AT, Pierce S, Fitzgerald M, Fazzi E, Galli J, Orcesi S, Tonduti D, Wassmer E, Cordova D, Adang LA, Butts C, Vanderver A. A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS). Mol Genet Metab. 2026 Mar;147(3):109765. doi: 10.1016/j.ymgme.2026.109765. Epub 2026 Feb 8. PubMed PMID: 41671914; PubMed Central PMCID: PMC13162174.
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. Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15. PubMed PMID: 40817303; PubMed Central PMCID: PMC12443631.
Kiefer M, Khan A, Leiro B, Yavorsky C, Laforet G, Kirby K, Townsend E. Feasibility, Acceptability, and Reliability of Remote Motor Assessment in Children With Canavan Disease. Pediatr Neurol. 2025 Mar;164:129-136. doi: 10.1016/j.pediatrneurol.2025.01.006. Epub 2025 Jan 11. PubMed PMID: 39892021.
Kiefer M, Townsend E, Goncalves C, Shellenbarger KC, Gochyyev P, Wong BL. Appendicular lean mass index and motor function in ambulatory patients with Duchenne muscular dystrophy. Muscle Nerve. 2024 Aug;70(2):226-231. doi: 10.1002/mus.28173. Epub 2024 Jun 5. PubMed PMID: 38837739.
Kiefer M, Simione M, Eichler FS, Townsend EL. Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function. J Child Neurol. 2024 May;39(5-6):161-170. doi: 10.1177/08830738241246703. Epub 2024 Apr 25. PubMed PMID: 38659405; PubMed Central PMCID: PMC11168865.
Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R. Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease. Hum Gene Ther. 2024 Jan;36(1-2):45-56. doi: 10.1089/hum.2024.168. Epub 2024 Dec 4. PubMed PMID: 39628365; PubMed Central PMCID: PMC11807896.
Krosschell KJ, Townsend EL, Kiefer M, Simeone SD, Zumpf K, Welty L, Swoboda KJ. Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis. Neuromuscul Disord. 2022 Feb;32(2):125-134. doi: 10.1016/j.nmd.2021.08.010. Epub 2021 Aug 24. PubMed PMID: 35063329; PubMed Central PMCID: PMC8908436.