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Page 1
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Jin SC, et al. Among authors: vaughan s. Nat Genet. 2020 Oct;52(10):1046-1056. doi: 10.1038/s41588-020-0695-1. Epub 2020 Sep 28. Nat Genet. 2020. PMID: 32989326 Free PMC article.
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Jin SC, et al. Among authors: vaughan s. Nat Genet. 2021 Mar;53(3):412. doi: 10.1038/s41588-021-00780-8. Nat Genet. 2021. PMID: 33432185 No abstract available.
Endocytosis regulates TDP-43 toxicity and turnover.
Liu G, Coyne AN, Pei F, Vaughan S, Chaung M, Zarnescu DC, Buchan JR. Liu G, et al. Among authors: vaughan s. Nat Commun. 2017 Dec 12;8(1):2092. doi: 10.1038/s41467-017-02017-x. Nat Commun. 2017. PMID: 29233983 Free PMC article.
TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD.
Chou CC, Zhang Y, Umoh ME, Vaughan SW, Lorenzini I, Liu F, Sayegh M, Donlin-Asp PG, Chen YH, Duong DM, Seyfried NT, Powers MA, Kukar T, Hales CM, Gearing M, Cairns NJ, Boylan KB, Dickson DW, Rademakers R, Zhang YJ, Petrucelli L, Sattler R, Zarnescu DC, Glass JD, Rossoll W. Chou CC, et al. Nat Neurosci. 2018 Feb;21(2):228-239. doi: 10.1038/s41593-017-0047-3. Epub 2018 Jan 8. Nat Neurosci. 2018. PMID: 29311743 Free PMC article.
Acute hepatitis in an 18-year-old returning traveller.
Jawad S, Coffin CS, Vaughan SD, Lamarche MC. Jawad S, et al. Among authors: vaughan sd. CMAJ. 2024 Apr 1;196(12):E410-E414. doi: 10.1503/cmaj.230490. CMAJ. 2024. PMID: 38565239 Free PMC article. No abstract available.
EMPOWER: A Multi-Site Pilot Trial to Reduce Distress in Surrogate Decision-Makers in the ICU.
Lichtenthal WG, Lief L, Rogers M, Russell D, Viola M, Winoker H, Kakarala S, Traube C, Coats T, Fadalla C, Roberts KE, Pavao M, Osso F, Brewin CR, Pan CX, Maciejewski PK, Berlin D, Pastores S, Halpern N, Vaughan SC, Cox CE, Prigerson HG. Lichtenthal WG, et al. Among authors: vaughan sc. J Pain Symptom Manage. 2024 Jun;67(6):512-524.e2. doi: 10.1016/j.jpainsymman.2024.03.002. Epub 2024 Mar 11. J Pain Symptom Manage. 2024. PMID: 38479536 Clinical Trial.
319 results