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Year | Number of Results |
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2020 | 2 |
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Page 1
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Int J Mol Sci. 2020 Feb 19;21(4):1409. doi: 10.3390/ijms21041409.
Int J Mol Sci. 2020.
PMID: 32093037
Free PMC article.
Review.
Clinical Spectrum and Geographic Distribution of Keratitis Fugax Hereditaria Caused by the Pathogenic Variant c.61G>C in NLRP3.
Immonen AT, Kawan S, Vesaluoma M, Heiskanen JM, Taipale C, Koskinen M, Majander A, Kivelä TT, Turunen JA.
Immonen AT, et al. Among authors: kawan s.
Am J Ophthalmol. 2022 Apr;236:309-318. doi: 10.1016/j.ajo.2021.10.025. Epub 2021 Nov 3.
Am J Ophthalmol. 2022.
PMID: 34740632
Free article.
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Functional consequences of pathogenic variant c.61G>C in the inflammasome gene NLRP3 underlying keratitis fugax hereditaria.
Kawan S, Backlund MP, Immonen AT, Kivelä TT, Turunen JA.
Kawan S, et al.
Br J Ophthalmol. 2024 Jan 29;108(2):323-328. doi: 10.1136/bjo-2022-321825.
Br J Ophthalmol. 2024.
PMID: 36385001
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In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3.
Turunen JA, Immonen AT, Järvinen RS, Kawan S, Repo P, Korsbäck A, Ala-Fossi O, Jaakkola AM, Majander A, Vesaluoma M, Kivelä TT.
Turunen JA, et al. Among authors: kawan s.
Am J Ophthalmol. 2020 May;213:217-225. doi: 10.1016/j.ajo.2020.02.002. Epub 2020 Feb 12.
Am J Ophthalmol. 2020.
PMID: 32059980
Free article.
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Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA, Tuisku IS, Repo P, Mörtenhumer S, Kawan S, Järvinen RS, Korsbäck A, Immonen AT, Kivelä TT.
Turunen JA, et al. Among authors: kawan s.
Acta Ophthalmol. 2024 May;102(3):296-305. doi: 10.1111/aos.15716. Epub 2023 Jun 8.
Acta Ophthalmol. 2024.
PMID: 37289141
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