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Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D. Mo A, et al. Among authors: smith l. Mov Disord. 2022 Dec;37(12):2440-2446. doi: 10.1002/mds.29225. Epub 2022 Sep 14. Mov Disord. 2022. PMID: 36103453 Free PMC article.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. Rios JJ, et al. Among authors: smith l. Am J Hum Genet. 2023 Dec 7;110(12):2103-2111. doi: 10.1016/j.ajhg.2023.10.009. Epub 2023 Nov 3. Am J Hum Genet. 2023. PMID: 37924809
Evaluation of cortical plasticity in children with cerebral palsy undergoing constraint-induced movement therapy based on functional near-infrared spectroscopy.
Cao J, Khan B, Hervey N, Tian F, Delgado MR, Clegg NJ, Smith L, Roberts H, Tulchin-Francis K, Shierk A, Shagman L, MacFarlane D, Liu H, Alexandrakis G. Cao J, et al. Among authors: smith l. J Biomed Opt. 2015 Apr;20(4):046009. doi: 10.1117/1.JBO.20.4.046009. J Biomed Opt. 2015. PMID: 25900145 Free PMC article. Clinical Trial.
Motion tracking and electromyography-assisted identification of mirror hand contributions to functional near-infrared spectroscopy images acquired during a finger-tapping task performed by children with cerebral palsy.
Hervey N, Khan B, Shagman L, Tian F, Delgado MR, Tulchin-Francis K, Shierk A, Roberts H, Smith L, Reid D, Clegg NJ, Liu H, MacFarlane D, Alexandrakis G. Hervey N, et al. Among authors: smith l. Neurophotonics. 2014 Oct;1(2):025009. doi: 10.1117/1.NPh.1.2.025009. Epub 2014 Nov 11. Neurophotonics. 2014. PMID: 26157980 Free PMC article.