157 related articles for article (PubMed ID: 23008233)
1. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
Talim B; Pyle A; Griffin H; Topaloglu H; Tokatli A; Keogh MJ; Santibanez-Koref M; Chinnery PF; Horvath R
Brain; 2013 Feb; 136(Pt 2):e228. PubMed ID: 23008233
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate.
Sawada D; Naito S; Aoyama H; Shiohama T; Ichikawa T; Imagawa E; Miyake N; Matsumoto N; Fujii K
Brain Dev; 2021 Aug; 43(7):798-803. PubMed ID: 33962821
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL).
Schicks J; Schöls L; van der Knaap MS; Synofzik M
Neurology; 2013 Apr; 80(16):e176-7. PubMed ID: 23589646
[No Abstract] [Full Text] [Related]
13. 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]
14. Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2.
Yamashita S; Miyake N; Matsumoto N; Osaka H; Iai M; Aida N; Tanaka Y
Brain Dev; 2013 Apr; 35(4):312-6. PubMed ID: 22677571
[TBL] [Abstract][Full Text] [Related]
15. Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and not Always Lactate Elevation.
Werner R; Daum E; Felber S; Wöhrle JC
Clin Neuroradiol; 2018 Sep; 28(3):451-453. PubMed ID: 29147736
[No Abstract] [Full Text] [Related]
16. Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene.
Yelam A; Nagarajan E; Chuquilin M; Govindarajan R
BMJ Case Rep; 2019 Jan; 12(1):. PubMed ID: 30635318
[TBL] [Abstract][Full Text] [Related]
17. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: a rare white matter disease with characteristic magnetic resonance imaging findings.
Sen A; Wattamwar PR; Thomas B; Nair M
Neurol India; 2010; 58(6):958-60. PubMed ID: 21150073
[No Abstract] [Full Text] [Related]
18. Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene.
Lin J; Chiconelli Faria E; Da Rocha AJ; Rodrigues Masruha M; Pereira Vilanova LC; Scheper GC; Van der Knaap MS
J Child Neurol; 2010 Nov; 25(11):1425-8. PubMed ID: 20501884
[TBL] [Abstract][Full Text] [Related]
19. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
van Berge L; Dooves S; van Berkel CG; Polder E; van der Knaap MS; Scheper GC
Biochem J; 2012 Feb; 441(3):955-62. PubMed ID: 22023289
[TBL] [Abstract][Full Text] [Related]
20. Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.
Martikainen MH; Ellfolk U; Majamaa K
J Neurol; 2013 Aug; 260(8):2078-83. PubMed ID: 23652419
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]