De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi. F. Hamdan, So-Hee Lim, Catherine Brunel-Guitton, Jean-Claude Decarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber, Rocio Moran, Keith Van Haren, Randal Richardson, Joost Nicolai, Karin M. E. J. Oberndorff, Justin D. Wagner, Kym M. Boycott, Elisa Rahikkala, Nella Junna, Henna TyynismaaInge Cuppen, Nienke E. Verbeek, Connie T. R. M. Stumpel, Michel A. Willemsen, Sonja A. de Munnik, Guy A. Rouleau, Eunjoon Kim, Erik-Jan Kamsteeg, Tjitske Kleefstra, Jacques L. Michaud

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)69-78
JournalHuman Mutation
Volume36
Issue number1
DOIs
Publication statusPublished - Jan 2015

Keywords

  • KIF1A
  • intellectual disability
  • spastic paraparesis
  • axonal neuropathy
  • de novo mutations

Cite this

Lee, J-R., Srour, M., Kim, D., Hamdan, F. F., Lim, S-H., Brunel-Guitton, C., Decarie, J-C., Rossignol, E., Mitchell, G. A., Schreiber, A., Moran, R., Van Haren, K., Richardson, R., Nicolai, J., Oberndorff, K. M. E. J., Wagner, J. D., Boycott, K. M., Rahikkala, E., Junna, N., ... Michaud, J. L. (2015). De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Human Mutation, 36(1), 69-78. https://doi.org/10.1002/humu.22709