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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 1 |
2015 | 1 |
2016 | 1 |
2017 | 1 |
2018 | 1 |
2019 | 1 |
2020 | 2 |
2024 | 0 |
PubMed (cited) for id: 615300
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Page 1
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Hum Mutat. 2020 Aug;41(8):1425-1434. doi: 10.1002/humu.24050.
Hum Mutat. 2020.
PMID: 32442335
LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A.
Carminho-Rodrigues MT, et al.
BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8.
BMC Med Genet. 2020.
PMID: 32423379
Free PMC article.
Review.
Item in Clipboard
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.
Neurology. 2019 Mar 12;92(11):e1225-e1237. doi: 10.1212/WNL.0000000000007098. Epub 2019 Feb 8.
Neurology. 2019.
PMID: 30737337
Free PMC article.
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Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
Kosaki R, Horikawa R, Fujii E, Kosaki K.
Kosaki R, et al.
Am J Med Genet A. 2018 Feb;176(2):404-408. doi: 10.1002/ajmg.a.38552. Epub 2017 Dec 3.
Am J Med Genet A. 2018.
PMID: 29205794
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First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
Soldà G, Caccia S, Robusto M, Chiereghin C, Castorina P, Ambrosetti U, Duga S, Asselta R.
Soldà G, et al.
J Hum Genet. 2016 Apr;61(4):295-300. doi: 10.1038/jhg.2015.149. Epub 2015 Dec 10.
J Hum Genet. 2016.
PMID: 26657938
Free PMC article.
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Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E.
Pierce SB, et al.
Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar 28.
Am J Hum Genet. 2013.
PMID: 23541342
Free PMC article.
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