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Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.
Ramos DM, d'Ydewalle C, Gabbeta V, Dakka A, Klein SK, Norris DA, Matson J, Taylor SJ, Zaworski PG, Prior TW, Snyder PJ, Valdivia D, Hatem CL, Waters I, Gupte N, Swoboda KJ, Rigo F, Bennett CF, Naryshkin N, Paushkin S, Crawford TO, Sumner CJ. Ramos DM, et al. J Clin Invest. 2019 Nov 1;129(11):4817-4831. doi: 10.1172/JCI124120. J Clin Invest. 2019. PMID: 31589162 Free PMC article. Clinical Trial.
Increased systemic HSP70B levels in spinal muscular atrophy infants.
Eichelberger EJ, Alves CRR, Zhang R, Petrillo M, Cullen P, Farwell W, Hurt JA, Staropoli JF, Swoboda KJ. Eichelberger EJ, et al. Ann Clin Transl Neurol. 2021 Jul;8(7):1495-1501. doi: 10.1002/acn3.51377. Epub 2021 May 15. Ann Clin Transl Neurol. 2021. PMID: 33991176 Free PMC article.
Impaired kidney structure and function in spinal muscular atrophy.
Nery FC, Siranosian JJ, Rosales I, Deguise MO, Sharma A, Muhtaseb AW, Nwe P, Johnstone AJ, Zhang R, Fatouraei M, Huemer N, Alves CRR, Kothary R, Swoboda KJ. Nery FC, et al. Neurol Genet. 2019 Aug 12;5(5):e353. doi: 10.1212/NXG.0000000000000353. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31517062 Free PMC article.
Implications of circulating neurofilaments for spinal muscular atrophy treatment early in life: A case series.
Alves CRR, Petrillo M, Spellman R, Garner R, Zhang R, Kiefer M, Simeone S, Sohn J, Eichelberger EJ, Rodrigues E, Arruda EA, Townsend EL, Farwell W, Swoboda KJ. Alves CRR, et al. Mol Ther Methods Clin Dev. 2021 Oct 30;23:524-538. doi: 10.1016/j.omtm.2021.10.011. eCollection 2021 Dec 10. Mol Ther Methods Clin Dev. 2021. PMID: 34853799 Free PMC article.