258 related articles for article (PubMed ID: 30737337)
41. Expanding the genotypic spectrum of Perrault syndrome.
Demain LA; Urquhart JE; O'Sullivan J; Williams SG; Bhaskar SS; Jenkinson EM; Lourenco CM; Heiberg A; Pearce SH; Shalev SA; Yue WW; Mackinnon S; Munro KJ; Newbury-Ecob R; Becker K; Kim MJ; O' Keefe RT; Newman WG
Clin Genet; 2017 Feb; 91(2):302-312. PubMed ID: 26970254
[TBL] [Abstract][Full Text] [Related]
42. A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.
Song C; Peng L; Wang S; Liu Y
J Hum Genet; 2019 Oct; 64(10):979-983. PubMed ID: 31388113
[TBL] [Abstract][Full Text] [Related]
43. 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]
44. Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.
McMillan HJ; Humphreys P; Smith A; Schwartzentruber J; Chakraborty P; Bulman DE; Beaulieu CL; ; Majewski J; Boycott KM; Geraghty MT
J Child Neurol; 2015 Jul; 30(8):1037-43. PubMed ID: 25330800
[TBL] [Abstract][Full Text] [Related]
45. Lin28a induced mitochondrial dysfunction in human granulosa cells via suppressing LARS2 expression.
Chen J; Liu W
Cell Signal; 2023 Mar; 103():110536. PubMed ID: 36436798
[TBL] [Abstract][Full Text] [Related]
46. Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
Friederich MW; Perez FA; Knight KM; Van Hove RA; Yang SP; Saneto RP; Van Hove JLK
Mol Genet Metab; 2020 Mar; 129(3):236-242. PubMed ID: 31917109
[TBL] [Abstract][Full Text] [Related]
47. Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.
Meng F; Cang X; Peng Y; Li R; Zhang Z; Li F; Fan Q; Guan AS; Fischel-Ghosian N; Zhao X; Guan MX
J Biol Chem; 2017 Feb; 292(7):2881-2892. PubMed ID: 28049726
[TBL] [Abstract][Full Text] [Related]
48. Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
Verrigni D; Diodato D; Di Nottia M; Torraco A; Bellacchio E; Rizza T; Tozzi G; Verardo M; Piemonte F; Tasca G; D'Amico A; Bertini E; Carrozzo R
Clin Genet; 2017 Jun; 91(6):918-923. PubMed ID: 27891585
[TBL] [Abstract][Full Text] [Related]
49. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin CR; Scharer GH; Friederich MW; Yu HC; Geiger EA; Creadon-Swindell G; Collins AE; Vanlander AV; Coster RV; Powell CA; Swanson MA; Minczuk M; Van Hove JL; Shaikh TH
J Med Genet; 2015 Aug; 52(8):532-40. PubMed ID: 25787132
[TBL] [Abstract][Full Text] [Related]
50. Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
Parayil Sankaran B; Nagappa M; Chiplunkar S; Kothari S; Govindaraj P; Sinha S; Taly AB
J Child Neurol; 2020 Jun; 35(7):433-441. PubMed ID: 32180488
[TBL] [Abstract][Full Text] [Related]
51. Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
Ruzzenente B; Assouline Z; Barcia G; Rio M; Boddaert N; Munnich A; Rötig A; Metodiev MD
Hum Mutat; 2018 Dec; 39(12):2047-2059. PubMed ID: 30252186
[TBL] [Abstract][Full Text] [Related]
52. Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene.
't Hart LM; Hansen T; Rietveld I; Dekker JM; Nijpels G; Janssen GM; Arp PA; Uitterlinden AG; Jørgensen T; Borch-Johnsen K; Pols HA; Pedersen O; van Duijn CM; Heine RJ; Maassen JA
Diabetes; 2005 Jun; 54(6):1892-5. PubMed ID: 15919814
[TBL] [Abstract][Full Text] [Related]
53. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Riedhammer KM; Stockler S; Ploski R; Wenzel M; Adis-Dutschmann B; Ahting U; Alhaddad B; Blaschek A; Haack TB; Kopajtich R; Lee J; Murcia Pienkowski V; Pollak A; Szymanska K; Tarailo-Graovac M; van der Lee R; van Karnebeek CD; Meitinger T; Krägeloh-Mann I; Vill K
Brain; 2021 Mar; 144(2):411-419. PubMed ID: 33313762
[TBL] [Abstract][Full Text] [Related]
54. Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children?
Bindu PS; Sonam K; Chiplunkar S; Govindaraj P; Nagappa M; Vekhande CC; Aravinda HR; Ponmalar JJ; Mahadevan A; Gayathri N; Bharath MS; Sinha S; Taly AB
Mult Scler Relat Disord; 2018 Feb; 20():84-92. PubMed ID: 29353736
[TBL] [Abstract][Full Text] [Related]
55. The spectrum of adult-onset heritable white-matter disorders.
Helman G; Venkateswaran S; Vanderver A
Handb Clin Neurol; 2018; 148():669-692. PubMed ID: 29478607
[TBL] [Abstract][Full Text] [Related]
56. Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Dorboz I; Aiello C; Simons C; Stone RT; Niceta M; Elmaleh M; Abuawad M; Doummar D; Bruselles A; Wolf NI; Travaglini L; Boespflug-Tanguy O; Tartaglia M; Vanderver A; Rodriguez D; Bertini E
Brain; 2017 Oct; 140(10):2550-2556. PubMed ID: 28969374
[TBL] [Abstract][Full Text] [Related]
57. Identification of a Novel Indel Variant in the
Bostanova FM; Tsygankova PG; Larshina EA; Nagornov IO; Evseeva YV; Krutikhina IL; Dzhentemirova ME; Kashlakova MN; Petukhova MS; Sharkova IV; Zakharova EY
Genes (Basel); 2024 May; 15(5):. PubMed ID: 38790244
[TBL] [Abstract][Full Text] [Related]
58. A homozygous mutation of alanyl-transfer RNA synthetase 2 in a patient of adult-onset leukodystrophy: A case report and literature review.
Wang JY; Chen SF; Zhang HQ; Wang MY; Zhu JH; Zhang X
Brain Behav; 2019 Jul; 9(7):e01313. PubMed ID: 31106991
[TBL] [Abstract][Full Text] [Related]
59. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
Sun C; Song J; Jiang Y; Zhao C; Lu J; Li Y; Wang Y; Gao M; Xi J; Luo S; Li M; Donaldson K; Oprescu SN; Slavin TP; Lee S; Magoulas PL; Lewis AM; Emrick L; Lalani SR; Niu Z; Landsverk ML; Walkiewicz M; Person RE; Mei H; Rosenfeld JA; Yang Y; Antonellis A; Hou YM; Lin J; Zhang VW
Neurol Genet; 2019 Apr; 5(2):e565. PubMed ID: 31192300
[TBL] [Abstract][Full Text] [Related]
60. 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]
[Previous] [Next] [New Search]
