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1999
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1499Zuchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289-94. Epub 2005 Jan 30.
2005
15731758item
1500Zuchner, S., De Jonghe, P., Jordanova, A., Claeys, K. G., Guergueltcheva, V., Cherninkova, S., Hamilton, S. R., Van Stavern, G., Krajewski, K. M., Stajich, J., Tournev, I., Verhoeven, K., Langerhorst, C. T., de Visser, M., Baas, F., Bird, T., Timmerman, V., Shy, M., Vance, J. M. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol. 59: 276-281, 2006.
2006
16437557item
1501Zuchner, S.; Kail, M. E.; Nance, M. A.; Gaskell, P. C.; Svenson, I. K.; Marchuk, D. A.; Pericak-Vance, M. A.; Ashley-Koch, A. E. : A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. (Letter) Neurogenetics 7: 127-129, 2006(a).
2006
16565863item
1502Zuchner, S.; Mersiyanova, I. V.; Muglia, M.; Bissar-Tadmouri, N.; Rochelle, J.; Dadali, E. L.; Zappia, M.; Nelis, E.; Patitucci, A.; Senderek, J.; Parman, Y.; Evgrafov, O.; and 10 others : Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genet. 36: 449-451, 2004. Note: Corrigendum: Nature Genet. 36: 660 only, 2004.
2004
15064763item
1503Zuchner, S.; Wang, G.; Tran-Viet, K.-N.; Nance, M. A.; Gaskell, P. C.; Vance, J. M.; Ashley-Koch, A. E.; Pericak-Vance, M. A. : Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am. J. Hum. Genet. 79: 365-369, 2006.(b)
2006
16826527item
1504Zuhlke, C.; Hellenbroich, Y.; Dalski, A.; Kononowa, N.; Hagenah, J.; Vieregge, P.; Riess, O.; Klein, C.; Schwinger, E. : Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Europ. J. Hum. Genet. 9: 160-164, 2001.
2001
11313753item