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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. Di Gioia SA, et al. Among authors: cheng l. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Miyake N, et al. Among authors: cheng l. Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24. Science. 2008. PMID: 18653847 Free PMC article.
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC. Park JG, et al. Among authors: cheng l. Am J Hum Genet. 2016 Jun 2;98(6):1220-1227. doi: 10.1016/j.ajhg.2016.03.023. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181683 Free PMC article.
Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration.
Latremoliere A, Cheng L, DeLisle M, Wu C, Chew S, Hutchinson EB, Sheridan A, Alexandre C, Latremoliere F, Sheu SH, Golidy S, Omura T, Huebner EA, Fan Y, Whitman MC, Nguyen E, Hermawan C, Pierpaoli C, Tischfield MA, Woolf CJ, Engle EC. Latremoliere A, et al. Among authors: cheng l. Cell Rep. 2018 Aug 14;24(7):1865-1879.e9. doi: 10.1016/j.celrep.2018.07.029. Cell Rep. 2018. PMID: 30110642 Free PMC article.
Nuclear IMPDH Filaments in Human Gliomas.
Ahangari N, Munoz DG, Coulombe J, Gray DA, Engle EC, Cheng L, Woulfe J. Ahangari N, et al. Among authors: cheng l. J Neuropathol Exp Neurol. 2021 Oct 26;80(10):944-954. doi: 10.1093/jnen/nlab090. J Neuropathol Exp Neurol. 2021. PMID: 34498062 Free PMC article.
Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly.
Fujimura K, Guise AJ, Nakayama T, Schlaffner CN, Meziani A, Kumar M, Cheng L, Vaughan DJ, Kodani A, Van Haren S, Parker K, Levy O, Durbin AF, Bosch I, Gehrke L, Steen H, Mochida GH, Steen JA. Fujimura K, et al. Among authors: cheng l. iScience. 2023 May 19;26(7):106909. doi: 10.1016/j.isci.2023.106909. eCollection 2023 Jul 21. iScience. 2023. PMID: 37332674 Free PMC article.
Common mouse models of tauopathy reflect early but not late human disease.
Wenger K, Viode A, Schlaffner CN, van Zalm P, Cheng L, Dellovade T, Langlois X, Bannon A, Chang R, Connors TR, Oakley D, Renard B, Rappsilber J, Hyman B, Steen H, Steen JA. Wenger K, et al. Among authors: cheng l. Mol Neurodegener. 2023 Feb 2;18(1):10. doi: 10.1186/s13024-023-00601-y. Mol Neurodegener. 2023. PMID: 36732784 Free PMC article.
Tau PTM Profiles Identify Patient Heterogeneity and Stages of Alzheimer's Disease.
Wesseling H, Mair W, Kumar M, Schlaffner CN, Tang S, Beerepoot P, Fatou B, Guise AJ, Cheng L, Takeda S, Muntel J, Rotunno MS, Dujardin S, Davies P, Kosik KS, Miller BL, Berretta S, Hedreen JC, Grinberg LT, Seeley WW, Hyman BT, Steen H, Steen JA. Wesseling H, et al. Among authors: cheng l. Cell. 2020 Dec 10;183(6):1699-1713.e13. doi: 10.1016/j.cell.2020.10.029. Epub 2020 Nov 13. Cell. 2020. PMID: 33188775 Free PMC article.
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