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De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL. Lee JR, et al. Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27. Hum Mutat. 2015. PMID: 25265257
Copine1 regulates neural stem cell functions during brain development.
Kim TH, Sung SE, Cheal Yoo J, Park JY, Yi GS, Heo JY, Lee JR, Kim NS, Lee DY. Kim TH, et al. Among authors: lee dy, lee jr. Biochem Biophys Res Commun. 2018 Jan 1;495(1):168-173. doi: 10.1016/j.bbrc.2017.10.167. Epub 2017 Oct 31. Biochem Biophys Res Commun. 2018. PMID: 29101038
2,003 results