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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28.
Am J Hum Genet. 2019.
PMID: 30929741
Free PMC article.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.
Farazi Fard MA, et al. Among authors: martuscelli nb.
Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009.
Am J Hum Genet. 2019.
PMID: 31173719
Free PMC article.
No abstract available.
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Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.
Buglo E, Sarmiento E, Martuscelli NB, Sant DW, Danzi MC, Abrams AJ, Dallman JE, Züchner S.
Buglo E, et al. Among authors: martuscelli nb.
PLoS One. 2020 Mar 24;15(3):e0230566. doi: 10.1371/journal.pone.0230566. eCollection 2020.
PLoS One. 2020.
PMID: 32208444
Free PMC article.
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