Publications

Publications

Züchner, S., Noureddine, M., Kennerson, M., Verhoeven, K., Claeys, K., De Jonghe, P., … & Walizada, G. (2005). Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature genetics, 37(3), 289-294.

Züchner, S., Mersiyanova, I. V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., … & Parman, Y. (2004). Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature genetics, 36(5), 449-451.

Speer, M. C., Graham, F. L., Bonner, E., Collier, K., Stajich, J. M., Gaskell, P. C., … & Vance, J. M. (2002). Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. Neurogenetics, 4(2), 83-85.

Baxter, R. V., Othmane, K. B., Rochelle, J. M., Stajich, J. E., Hulette, C., Dew-Knight, S., … & Gilbert, J. R. (2002). Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature genetics, 30(1), 21.

Othmane, K. B., Rochelle, J. M., Hamida, M. B., Slotterbeck, B., Rao, N., Hentati, F., … & Vance, J. M. (1998). Fine localization of the CMT4A locus using a PAC contig and haplotype analysis. Neurogenetics, 2(1), 18-23.

Pericak-Vance, M. A., Speer, M. C., Lennon, F., West, S. G., Menold, M. M., Stajich, J. M., … & Rozear, M. P. (1997). Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics,1(2), 89-93.

Isozumi, K., DeLong, R., Kaplan, J., Deng, H. X., Iqbal, Z., Hung, W. Y., … & Siddique, T. (1996). Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24. 1-q24. 31. Human molecular genetics, 5(9), 1377-1382.

Othmane, K. B., Loeb, D., Hayworth-Hodgte, R., Hentati, F., Rao, N., Roses, A. D., … & Vance, J. M. (1995). Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics,28(2), 286-290.

Pericak-Vance, M. A., Barker, D. F., Bergoffen, J., Chance, P., Cochrane, S., Dahl, N., … & Gal, A. (1995). Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. Human heredity, 45(3), 121-128.

Roses, A. D., Pericak‐Vance, M. A., Saunders, A. M., Schmechel, D., Goldgaber, D., & Strittmatter, W. (1994). Complex genetic disease: can genetic strategies in Alzheimer’s disease and new genetic mechanisms be applied to epilepsy?. Epilepsia, 35(s1), S20-S28.

Othmane, K. B., Hentatl, F., Lennon, F., Hamida, C. B., Blel, S., Roses, A. D., … & Vance, J. M. (1993). Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Human molecular genetics, 2(10), 1625-1628.

Othmane, K. B., Middleton, L. T., Loprest, L. J., Wilkinson, K. M., Lennon, F., Rozear, M. P., … & Vance, J. M. (1993). Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics, 17(2), 370-375.

Bergoffen, J., Trofatter, J., Pericak-Vance, M. A., Haines, J. L., Chance, P. F., & Fischbeck, K. H. (1993). Linkage localization of X-linked Charcot-Marie-Tooth disease. American journal of human genetics, 52(2), 312.

Loprest, L. J., Pericak-Vance, M. A., Stajich, J., Gaskell, P. C., Lucas, A. M., Lennon, F., … & Vance, J. M. (1992). Linkage studies in Charcot‐Marie‐Tooth disease type 2 Evidence that CMT types 1 and 2 are distinct genetic entities. Neurology, 42(3), 597-597.

Vance, J. M., Barker, D., Yamaoka, L. H., Stajich, J. M., Loprest, L., Hung, W. Y., … & Pericak-Vance, M. A. (1991). Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11. 2. Genomics, 9(4), 623-628.

Vance, J. M., Nicholson, G. A., Yamaoka, L. H., Stajich, J., Stewart, C. S., Speer, M. C., … & Pericak-Vance, M. A. (1989). Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Experimental neurology,104(2), 186-189.

Roses, A. D., Pericak‐Vance, M. A., Yamaoka, L. H., Stubblefield, E., Stajich, J., Vance, J. M., … & Carter, D. B. (1983). Recombinant DNA strategies in genetic neurological diseases. Muscle & nerve, 6(5), 339-355.