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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: zhang rz. Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18. Muscle Nerve. 2018. PMID: 28833236 Clinical Trial.
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Ruhno C, et al. Among authors: zhang rz. Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20. Hum Genet. 2019. PMID: 30788592 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.
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.
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.
265 results