Publications

Publications

Montenegro, G., Rebelo, A. P., Connell, J., Allison, R., Babalini, C., D’Aloia, M., … & Strickland, A. (2012). Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. The Journal of clinical investigation, 122(2), 538-544.

McCorquodale, D. S., Ozomaro, U., Huang, J., Montenegro, G., Kushman, A., Citrigno, L., … & Züchner, S. (2011). Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clinical genetics, 79(6), 523-530.

Züchner, S., Wang, G., Tran-Viet, K. N., Nance, M. A., Gaskell, P. C., Vance, J. M., … & Pericak-Vance, M. A. (2006). Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.The American Journal of Human Genetics, 79(2), 365-369.

Züchner, S., Kail, M. E., Nance, M. A., Gaskell, P. C., Svenson, I. K., Marchuk, D. A., … & Ashley-Koch, A. E. (2006). A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. Neurogenetics,7(2), 127-129.

Svenson, I. K., Kloos, M. T., Jacon, A., Gallione, C., Horton, A. C., Pericak-Vance, M. A., … & Marchuk, D. A. (2005). Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.Neurogenetics, 6(3), 135-141.

Svenson, I. K., Kloos, M. T., Gaskell, P. C., Nance, M. A., Garbern, J. Y., Hisanaga, S. I., … & Marchuk, D. A. (2004). Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics,5(3), 157-164.

Reid, E., Kloos, M., Ashley-Koch, A., Hughes, L., Bevan, S., Svenson, I. K., … & Rubinsztein, D. C. (2002). A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). The American Journal of Human Genetics, 71(5), 1189-1194.

Svenson, I. K., Ashley-Koch, A. E., Pericak-Vance, M. A., & Marchuk, D. A. (2001). A second leaky splice-site mutation in the spastin gene. The American Journal of Human Genetics, 69(6), 1407-1409.

Svenson, I. K., Ashley-Koch, A. E., Gaskell, P. C., Riney, T. J., Cumming, W. K., Kingston, H. M., … & Pericak-Vance, M. A. (2001). Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. The American Journal of Human Genetics, 68(5), 1077-1085.

Ashley-Koch, A., Bonner, E. R., Gaskell, P. C., West, S. G., Tim, R., Wolpert, C. M., … & Marchuk, D. A. (2001). Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. Neurogenetics, 3(2), 91-97.

Nance, M. A., Raabe, W. A., Midani, H., Kolodny, E. H., David, W. S., Megna, L., … & Haines, J. L. (1998). Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. Human heredity, 48(3), 169-178.

Scott, W. K., Gaskell, P. C., Lennon, F., Wolpert, C. M., Menold, M. M., Aylsworth, A. S., … & Boyd, E. (1997). Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. neurogenetics, 1(2), 95-102.

Raskind, W. H., Pericak‐Vance, M. A., Lennon, F., Wolff, J., Lipe, H. P., & Bird, T. D. (1997). Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. American journal of medical genetics, 74(1), 26-36.

Fink, J. K., Heiman-Patterson, T., Bird, T., Cambi, F., Dube, M. P., Figlewicz, D. A., … & Rouleau, G. A. (1996). Hereditary Spastic Paraplegia Advances in Genetic Research. Neurology, 46(6), 1507-1514.

Hentati, A., Pericak-Vance, M. A., Lennon, F., Wasserman, B., Hentati, F., Juneja, T., … & Iqbal, Z. (1994). Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Human molecular genetics, 3(10), 1867-1871.

Hentati, A., Perlcak-Vance, M. A., Hung, W. Y., Belal, S., Laing, N., Boustany, R. M., … & Siddlque, T. (1994). Linkage of ‘pure’autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Human molecular genetics, 3(8), 1263-1267.