Recent Selected Publications:

Kolb, S.J., Snyder, P., Poi, E.J., Renard, E.A., Bartlett, A., Gu, S., Sutton, S., Arnold, W.D., Freimer, M.L., Lawson, V.H., Kissel, J.T. and Prior, T.W. (2010) Mutant Small Heat Shock Protein B3 Causes Motor Neuropathy: Utility of a Candidate Gene Approach, Neurol. 74, 502-506.

Kolb, S.J. and Kissel, J.T. (2008) Coincident Trinucleotide Repeat Expansions in a Patient with Myotonic Dystrophy Type 1 and Spinocerebellar Ataxia, J. Clin. Neuromus. Dis. 10, 22-23.

Kolb, S.J., Battle, D.J., Dreyfuss, G. (2007) Molecular Functions of the SMN Complex, J. Child Neurol. 22, 990-994.

Neumann, M., Igaz, L.M., Kwong, L.K., Nakashima-Yasuda, H., Kolb, S.J., Dreyfuss, G., Kretzschmar, H.A., Trojanowski, J.Q., and Lee, V. M.-Y. (2007) Absence of Heterogeneous Nuclear Ribonucleoproteins and Survival Motor Neuron Protein in TDP-43 Positive Inclusions in Frontotemporal Lobar Degeneration, Acta Neuropathol. (Berl). 113, 543-548.

Sumner, C.J. *, Kolb, S.J.*, Harmison, G.G., Jeffries, N.O., Schadt, K., Finkel, R.S., Dreyfuss, G., and Fischbeck, K.H. (2006) SMN mRNA and Protein Levels in Peripheral Blood: Biomarkers for SMA Clinical Trials, Neurol. 66, 1067-1073. *co-first author

Kolb, S.J., Gubitz, A.K., Olszewski, R.F., Ottinger, E., Sumner, C.J., Fischbeck, K.H., and Dreyfuss, G. (2006) A Novel Cell Immunoassay to Measure Survival of Motor Neurons Protein in Blood Cells, BMC Neurology 6, 6.

Wan, L., Battle, D.J., Yong, J., Gubitz, A.K., Kolb, S.J., Wang, J., and Dreyfuss, G. (2005) The Survival of Motor Neurons Protein Determines the Capacity for snRNP Assembly: a Biochemical Deficiency in Spinal Muscular Atrophy, Mol. Cell. Biol. 25, 5543-5551. 

Editorials, Invited Reviews, and Book Chapters:

Kolb, S.J., Sutton, S, and Schoenberg, D.R. (2010) RNA Processing Defects Associated with Diseases of the Motor Neuron, Muscle Nerve 41, 5-17.

Kolb, S.J., Battle, D.J. and Dreyfuss, G. (2007) Molecular Functions of the SMN Complex, J. Child Neurol. 22, 990-994.

Kolb, S.J. and Taylor, J.P. (2006) Spinal Muscular Atrophy. In: Lynch, D. ed. Neurogenetics: Scientific and Clinical Advances. New York: Marcel Dekker, pp 213-230.