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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. Among authors: lim sh. Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27. Hum Mutat. 2015. PMID: 25265257
Phosphoproteome profiling of hippocampal synaptic plasticity.
Lim SH, Lee NY, Ryu JY, An JH, Lee GS, Min SS, Moon J, Lee JR. Lim SH, et al. Biochem Biophys Res Commun. 2022 Oct 20;626:92-99. doi: 10.1016/j.bbrc.2022.07.051. Epub 2022 Jul 19. Biochem Biophys Res Commun. 2022. PMID: 35981422 Free article.
2,002 results