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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Among authors: gong y. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Brain endothelial dysfunction in cerebral adrenoleukodystrophy.
Musolino PL, Gong Y, Snyder JM, Jimenez S, Lok J, Lo EH, Moser AB, Grabowski EF, Frosch MP, Eichler FS. Musolino PL, et al. Among authors: gong y. Brain. 2015 Nov;138(Pt 11):3206-20. doi: 10.1093/brain/awv250. Epub 2015 Sep 15. Brain. 2015. PMID: 26377633 Free PMC article.
The AAV9 Variant Capsid AAV-F Mediates Widespread Transgene Expression in Nonhuman Primate Spinal Cord After Intrathecal Administration.
Beharry A, Gong Y, Kim JC, Hanlon KS, Nammour J, Hieber K, Eichler F, Cheng M, Stemmer-Rachamimov A, Stankovic KM, Welling DB, Ng C, Maguire CA. Beharry A, et al. Among authors: gong y. Hum Gene Ther. 2022 Jan;33(1-2):61-75. doi: 10.1089/hum.2021.069. Epub 2021 Aug 26. Hum Gene Ther. 2022. PMID: 34128391 Free PMC article.
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