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dSarm/Sarm1 is required for activation of an injury-induced axon death pathway.
Osterloh JM, Yang J, Rooney TM, Fox AN, Adalbert R, Powell EH, Sheehan AE, Avery MA, Hackett R, Logan MA, MacDonald JM, Ziegenfuss JS, Milde S, Hou YJ, Nathan C, Ding A, Brown RH Jr, Conforti L, Coleman M, Tessier-Lavigne M, Züchner S, Freeman MR. Osterloh JM, et al. Among authors: zuchner s. Science. 2012 Jul 27;337(6093):481-4. doi: 10.1126/science.1223899. Epub 2012 Jun 7. Science. 2012. PMID: 22678360 Free PMC article.
POLG mutations presenting as Charcot-Marie-Tooth disease.
Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS. Phillips J, et al. Among authors: zuchner s. J Peripher Nerv Syst. 2019 Jun;24(2):213-218. doi: 10.1111/jns.12313. Epub 2019 Apr 10. J Peripher Nerv Syst. 2019. PMID: 30843307 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: zuchner s. 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.
Genetic modifiers and non-Mendelian aspects of CMT.
Bis-Brewer DM, Fazal S, Züchner S. Bis-Brewer DM, et al. Among authors: zuchner s. Brain Res. 2020 Jan 1;1726:146459. doi: 10.1016/j.brainres.2019.146459. Epub 2019 Sep 13. Brain Res. 2020. PMID: 31525351 Free PMC article. Review.
Prot2HG: a database of protein domains mapped to the human genome.
Stanek D, Bis-Brewer DM, Saghira C, Danzi MC, Seeman P, Lassuthova P, Zuchner S. Stanek D, et al. Among authors: zuchner s. Database (Oxford). 2020 Jan 1;2020:baz161. doi: 10.1093/database/baz161. Database (Oxford). 2020. PMID: 32293014 Free PMC article.
399 results