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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L, Simpson A, Gilot D, Christodoulou J, Ravel C, Sinclair AH, Belaud-Rotureau MA, Tucker EJ, Jaillard S. Neyroud AS, et al. Among authors: frugier m. Eur J Hum Genet. 2023 Apr;31(4):453-460. doi: 10.1038/s41431-022-01252-1. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450801 Free PMC article.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI, Nixon CY, Kirk EP, Roscioli T, Lunke S, Stark Z, Wierenga KJ, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton AG, Thorburn DR, Christodoulou J. Riley LG, et al. Among authors: frugier m. Hum Mutat. 2020 Aug;41(8):1425-1434. doi: 10.1002/humu.24050. Hum Mutat. 2020. PMID: 32442335
Structural Analysis of RNA by Small-Angle X-ray Scattering.
Théobald-Dietrich A, de Wijn R, Rollet K, Bluhm A, Rudinger-Thirion J, Paulus C, Lorber B, Thureau A, Frugier M, Sauter C. Théobald-Dietrich A, et al. Among authors: frugier m. Methods Mol Biol. 2020;2113:189-215. doi: 10.1007/978-1-0716-0278-2_14. Methods Mol Biol. 2020. PMID: 32006316
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F. van der Knaap MS, et al. Among authors: frugier m. Neurology. 2019 Mar 12;92(11):e1225-e1237. doi: 10.1212/WNL.0000000000007098. Epub 2019 Feb 8. Neurology. 2019. PMID: 30737337 Free PMC article.
48 results