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Krabbe disease successfully treated via monotherapy of intrathecal gene therapy.
Bradbury AM, Bagel JH, Nguyen D, Lykken EA, Pesayco Salvador J, Jiang X, Swain GP, Assenmacher CA, Hendricks IJ, Miyadera K, Hess RS, Ostrager A, ODonnell P, Sands MS, Ory DS, Shelton GD, Bongarzone ER, Gray SJ, Vite CH. Bradbury AM, et al. Among authors: pesayco salvador j. J Clin Invest. 2020 Sep 1;130(9):4906-4920. doi: 10.1172/JCI133953. J Clin Invest. 2020. PMID: 32773406 Free PMC article.
A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy.
Letko A, Minor KM, Friedenberg SG, Shelton GD, Salvador JP, Mandigers PJJ, Leegwater PAJ, Winkler PA, Petersen-Jones SM, Stanley BJ, Ekenstedt KJ, Johnson GS, Hansen L, Jagannathan V, Mickelson JR, Drögemüller C. Letko A, et al. Among authors: salvador jp. Genes (Basel). 2020 Nov 27;11(12):1426. doi: 10.3390/genes11121426. Genes (Basel). 2020. PMID: 33261176 Free PMC article.
AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease).
Bradbury AM, Rafi MA, Bagel JH, Brisson BK, Marshall MS, Pesayco Salvador J, Jiang X, Swain GP, Prociuk ML, ODonnell PA, Fitzgerald C, Ory DS, Bongarzone ER, Shelton GD, Wenger DA, Vite CH. Bradbury AM, et al. Among authors: pesayco salvador j. Hum Gene Ther. 2018 Jul;29(7):785-801. doi: 10.1089/hum.2017.151. Epub 2018 Mar 14. Hum Gene Ther. 2018. PMID: 29316812 Free PMC article.