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| 1 | Vivi Li | + 317 word(s) | 317 | 2020-12-15 07:51:05 |
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Li, V. EARS2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5230 (accessed on 22 September 2026).
Li V. EARS2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5230. Accessed September 22, 2026.
Li, Vivi. "EARS2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5230 (accessed September 22, 2026).
Li, V. (2020, December 24). EARS2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5230
Li, Vivi. "EARS2 Gene." Encyclopedia. Web. 24 December, 2020.
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Glutamyl-tRNA Synthetase 2, Mitochondrial
genes
References
- Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D,Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C.Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathywith Thalamus and Brainstem Involvement and High Lactate (LTBL) in a PatientHarboring a Novel EARS2 Mutation. JIMD Rep. 2015;23:85-9. doi:10.1007/8904_2015_434.
- Danhauser K, Haack TB, Alhaddad B, Melcher M, Seibt A, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F. EARS2 mutations cause fatalneonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.Metab Brain Dis. 2016 Jun;31(3):717-21. doi: 10.1007/s11011-016-9793-2.
- Kevelam SH, Klouwer FC, Fock JM, Salomons GS, Bugiani M, van der Knaap MS.Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL. Neuropediatrics. 2016 Jan;47(1):64-7. doi: 10.1055/s-0035-1568987.
- Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, BleyA, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt5):1387-94. doi: 10.1093/brain/aws070.
- Taskin BD, Karalok ZS, Gurkas E, Aydin K, Aydogmus U, Ceylaner S, Karaer K,Yilmaz C, Pearl PL. Early-Onset Mild Type Leukoencephalopathy Caused by aHomozygous EARS2 Mutation. J Child Neurol. 2016 Jun;31(7):938-41. doi:10.1177/0883073816630087.
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