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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: kim e, kim d. Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27. Hum Mutat. 2015. PMID: 25265257
Structural basis for LAR-RPTP/Slitrk complex-mediated synaptic adhesion.
Um JW, Kim KH, Park BS, Choi Y, Kim D, Kim CY, Kim SJ, Kim M, Ko JS, Lee SG, Choii G, Nam J, Heo WD, Kim E, Lee JO, Ko J, Kim HM. Um JW, et al. Among authors: kim e, kim d, kim hm, kim cy, kim sj, kim m, kim kh. Nat Commun. 2014 Nov 14;5:5423. doi: 10.1038/ncomms6423. Nat Commun. 2014. PMID: 25394468 Free article.
Lrfn2-Mutant Mice Display Suppressed Synaptic Plasticity and Inhibitory Synapse Development and Abnormal Social Communication and Startle Response.
Li Y, Kim R, Cho YS, Song WS, Kim D, Kim K, Roh JD, Chung C, Park H, Yang E, Kim SJ, Ko J, Kim H, Kim MH, Bae YC, Kim E. Li Y, et al. Among authors: kim e, kim h, kim r, kim d, kim sj, kim mh, kim k. J Neurosci. 2018 Jun 27;38(26):5872-5887. doi: 10.1523/JNEUROSCI.3321-17.2018. Epub 2018 May 24. J Neurosci. 2018. PMID: 29798891 Free PMC article.
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