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Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ. Greene S, et al. Among authors: introne wj. Semin Pediatr Neurol. 2024 Dec;52:101168. doi: 10.1016/j.spen.2024.101168. Epub 2024 Nov 8. Semin Pediatr Neurol. 2024. PMID: 39622608 Review.
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
Gil-Krzewska A, Wood SM, Murakami Y, Nguyen V, Chiang SCC, Cullinane AR, Peruzzi G, Gahl WA, Coligan JE, Introne WJ, Bryceson YT, Krzewski K. Gil-Krzewska A, et al. Among authors: introne wj. J Allergy Clin Immunol. 2016 Apr;137(4):1165-1177. doi: 10.1016/j.jaci.2015.08.039. Epub 2015 Oct 21. J Allergy Clin Immunol. 2016. PMID: 26478006 Free PMC article.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Neurology. 2016. Retracted and republished in: Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622 PMID: 26944273 Free PMC article. Retracted and republished.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622. Neurology. 2017. PMID: 28193763 Free PMC article.
An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.
Gil-Krzewska A, Saeed MB, Oszmiana A, Fischer ER, Lagrue K, Gahl WA, Introne WJ, Coligan JE, Davis DM, Krzewski K. Gil-Krzewska A, et al. Among authors: introne wj. J Allergy Clin Immunol. 2018 Sep;142(3):914-927.e6. doi: 10.1016/j.jaci.2017.10.040. Epub 2017 Dec 11. J Allergy Clin Immunol. 2018. PMID: 29241728 Free PMC article.
101 results