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Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.
De Pace R, Skirzewski M, Damme M, Mattera R, Mercurio J, Foster AM, Cuitino L, Jarnik M, Hoffmann V, Morris HD, Han TU, Mancini GMS, Buonanno A, Bonifacino JS. De Pace R, et al. Among authors: hoffmann v. PLoS Genet. 2018 Apr 26;14(4):e1007363. doi: 10.1371/journal.pgen.1007363. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29698489 Free PMC article.
Spontaneous chordoma: a case report on a female UM-HET3 mouse from the SLAM study.
Duregon E, Vieira Ligo Teixeira C, Palliyaguru DL, Rudderow AL, Hoffmann V, Bernier M, Price NL, Camandola S, de Cabo R. Duregon E, et al. Among authors: hoffmann v. Aging Pathobiol Ther. 2020;2(4):219-222. doi: 10.31491/apt.2020.12.043. Aging Pathobiol Ther. 2020. PMID: 34355215 Free PMC article.
Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing.
Venturoni LE, Chandler RJ, Liao J, Hoffmann V, Ramesh N, Gordo S, Chau N, Venditti CP. Venturoni LE, et al. Among authors: hoffmann v. Mol Genet Metab. 2022 Sep-Oct;137(1-2):1-8. doi: 10.1016/j.ymgme.2022.06.011. Epub 2022 Jul 4. Mol Genet Metab. 2022. PMID: 35868241 Free PMC article.
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, Zerfas PM, Cusmano-Ozog K, Young S, Trivedi NS, Cheng J, Sloan JL, Chandler RJ, Abu-Asab M, Tsokos M, Elkahloun AG, Rosen S, Enns GM, Berry GT, Hoffmann V, DiMauro S, Schnermann J, Venditti CP. Manoli I, et al. Among authors: hoffmann v. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13552-7. doi: 10.1073/pnas.1302764110. Epub 2013 Jul 29. Proc Natl Acad Sci U S A. 2013. PMID: 23898205 Free PMC article. Clinical Trial.
394 results