184 related articles for article (PubMed ID: 33855712)
1. Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
Ni M; Black LF; Pan C; Vu H; Pei J; Ko B; Cai L; Solmonson A; Yang C; Nugent KM; Grishin NV; Xing C; Roeder E; DeBerardinis RJ
J Inherit Metab Dis; 2021 Jul; 44(4):949-960. PubMed ID: 33855712
[TBL] [Abstract][Full Text] [Related]
2. Identification of a Novel Variant in
Barbosa-Gouveia S; González-Vioque E; Hermida Á; Suarez MU; Martínez-González MJ; Borges F; Wintjes L; Kappen A; Rodenburg R; Couce ML
Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32887222
[TBL] [Abstract][Full Text] [Related]
3. A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).
Güngör O; Özkaya AK; Şahin Y; Güngör G; Dilber C; Aydın K
Brain Dev; 2016 Oct; 38(9):857-61. PubMed ID: 27117034
[TBL] [Abstract][Full Text] [Related]
4. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
Danhauser K; Haack TB; Alhaddad B; Melcher M; Seibt A; Strom TM; Meitinger T; Klee D; Mayatepek E; Prokisch H; Distelmaier F
Metab Brain Dis; 2016 Jun; 31(3):717-21. PubMed ID: 26780086
[TBL] [Abstract][Full Text] [Related]
5. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.
Taskin BD; Karalok ZS; Gurkas E; Aydin K; Aydogmus U; Ceylaner S; Karaer K; Yilmaz C; Pearl PL
J Child Neurol; 2016 Jun; 31(7):938-41. PubMed ID: 26893310
[TBL] [Abstract][Full Text] [Related]
6. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Steenweg ME; Ghezzi D; Haack T; Abbink TE; Martinelli D; van Berkel CG; Bley A; Diogo L; Grillo E; Te Water Naudé J; Strom TM; Bertini E; Prokisch H; van der Knaap MS; Zeviani M
Brain; 2012 May; 135(Pt 5):1387-94. PubMed ID: 22492562
[TBL] [Abstract][Full Text] [Related]
7. Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
Şahin S; Cansu A; Kalay E; Dinçer T; Kul S; Çakır İM; Kamaşak T; Budak GY
J Neurol Sci; 2016 Jun; 365():54-8. PubMed ID: 27206875
[TBL] [Abstract][Full Text] [Related]
8. Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Roux CJ; Barcia G; Schiff M; Sissler M; Levy R; Dangouloff-Ros V; Desguerre I; Edvardson S; Elpeleg O; Rötig A; Munnich A; Boddaert N
Mol Genet Metab; 2021 Jun; 133(2):222-229. PubMed ID: 33972171
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Maffezzini C; Laine I; Dallabona C; Clemente P; Calvo-Garrido J; Wibom R; Naess K; Barbaro M; Falk A; Donnini C; Freyer C; Wredenberg A; Wedell A
Mol Genet Genomic Med; 2019 Jun; 7(6):e654. PubMed ID: 30920170
[TBL] [Abstract][Full Text] [Related]
10. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.
Fine AS; Nemeth CL; Kaufman ML; Fatemi A
J Neurodev Disord; 2019 Dec; 11(1):29. PubMed ID: 31839000
[TBL] [Abstract][Full Text] [Related]
11. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
Theisen BE; Rumyantseva A; Cohen JS; Alcaraz WA; Shinde DN; Tang S; Srivastava S; Pevsner J; Trifunovic A; Fatemi A
Am J Med Genet A; 2017 Sep; 173(9):2505-2510. PubMed ID: 28650581
[TBL] [Abstract][Full Text] [Related]
12. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Wortmann SB; Timal S; Venselaar H; Wintjes LT; Kopajtich R; Feichtinger RG; Onnekink C; Mühlmeister M; Brandt U; Smeitink JA; Veltman JA; Sperl W; Lefeber D; Pruijn G; Stojanovic V; Freisinger P; V Spronsen F; Derks TG; Veenstra-Knol HE; Mayr JA; Rötig A; Tarnopolsky M; Prokisch H; Rodenburg RJ
Hum Mutat; 2017 Dec; 38(12):1786-1795. PubMed ID: 28905505
[TBL] [Abstract][Full Text] [Related]
13. Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.
Kevelam SH; Klouwer FC; Fock JM; Salomons GS; Bugiani M; van der Knaap MS
Neuropediatrics; 2016 Jan; 47(1):64-7. PubMed ID: 26619324
[TBL] [Abstract][Full Text] [Related]
14. Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
Sellars EA; Balmakund T; Bosanko K; Nichols BL; Kahler SG; Zarate YA
Neuropediatrics; 2017 Apr; 48(2):108-110. PubMed ID: 27875839
[TBL] [Abstract][Full Text] [Related]
15. Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
Al Balushi A; Matviychuk D; Jobling R; Salomons GS; Blaser S; Mercimek-Andrews S
JIMD Rep; 2020 Jan; 51(1):3-10. PubMed ID: 32071833
[TBL] [Abstract][Full Text] [Related]
16. Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.
Oliveira R; Sommerville EW; Thompson K; Nunes J; Pyle A; Grazina M; Chinnery PF; Diogo L; Garcia P; Taylor RW
JIMD Rep; 2017; 33():61-68. PubMed ID: 27571996
[TBL] [Abstract][Full Text] [Related]
17. Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".
Prasun P; Mintz C; Cork E; Naidich TP; Webb BD
J Neurol Sci; 2019 Nov; 406():116448. PubMed ID: 31520968
[No Abstract] [Full Text] [Related]
18. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Almannai M; Wang J; Dai H; El-Hattab AW; Faqeih EA; Saleh MA; Al Asmari A; Alwadei AH; Aljadhai YI; AlHashem A; Tabarki B; Lines MA; Grange DK; Benini R; Alsaman AS; Mahmoud A; Katsonis P; Lichtarge O; Wong LC
Mol Genet Metab; 2018 Nov; 125(3):281-291. PubMed ID: 30177229
[TBL] [Abstract][Full Text] [Related]
19. The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ; Tarailo-Graovac M; Ghani A; Champion M; Deshpande C; Dursun A; Ozgul RK; Freisinger P; Garber I; Haack TB; Horvath R; Barić I; Husain RA; Kluijtmans LAJ; Kotzaeridou U; Morris AA; Ross CJ; Santra S; Smeitink J; Tarnopolsky M; Wortmann SB; Mayr JA; Brunner-Krainz M; Prokisch H; Wasserman WW; Wevers RA; Engelke UF; Rodenburg RJ; Ting TW; McFarland R; Taylor RW; Salvarinova R; van Karnebeek CDM
Mol Genet Metab; 2018 Jan; 123(1):28-42. PubMed ID: 29331171
[TBL] [Abstract][Full Text] [Related]
20. Glu-Q-tRNA(Asp) synthetase coded by the yadB gene, a new paralog of aminoacyl-tRNA synthetase that glutamylates tRNA(Asp) anticodon.
Blaise M; Becker HD; Lapointe J; Cambillau C; Giegé R; Kern D
Biochimie; 2005; 87(9-10):847-61. PubMed ID: 16164993
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
