287 related articles for article (PubMed ID: 29228836)
1. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
Pelnena D; Burnyte B; Jankevics E; Lace B; Dagyte E; Grigalioniene K; Utkus A; Krumina Z; Rozentale J; Adomaitiene I; Stavusis J; Pliss L; Inashkina I
Mitochondrial DNA A DNA Mapp Seq Anal; 2018 Oct; 29(7):1115-1120. PubMed ID: 29228836
[TBL] [Abstract][Full Text] [Related]
2. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
Blok MJ; Spruijt L; de Coo IF; Schoonderwoerd K; Hendrickx A; Smeets HJ
J Med Genet; 2007 Apr; 44(4):e74. PubMed ID: 17400793
[TBL] [Abstract][Full Text] [Related]
3. [Clinical and genetic characteristics of children with Leigh syndrome].
Fang F; Shen Y; Shen DM; Liu ZM; Ding CH; Zhang WC; Sun SZ; Lyu JL; Han TL; Wang XH; Zhang WH; Yang XY; Li JW; Wu HS
Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):205-209. PubMed ID: 28273704
[No Abstract] [Full Text] [Related]
4. Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family.
Weerasinghe CAL; Bui BT; Vu TT; Nguyen HT; Phung BK; Nguyen VM; Pham VA; Cao VH; Phan TN
Mol Med Rep; 2018 May; 17(5):6919-6925. PubMed ID: 29512743
[TBL] [Abstract][Full Text] [Related]
5. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
Yang YL; Sun F; Zhang Y; Qian N; Yuan Y; Wang ZX; Qi Y; Xiao JX; Wang XY; Qi ZY; Zhang YH; Jiang YW; Bao XH; Qin J; Wu XR
Chin Med J (Engl); 2006 Mar; 119(5):373-7. PubMed ID: 16542579
[TBL] [Abstract][Full Text] [Related]
6. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Chol M; Lebon S; Bénit P; Chretien D; de Lonlay P; Goldenberg A; Odent S; Hertz-Pannier L; Vincent-Delorme C; Cormier-Daire V; Rustin P; Rötig A; Munnich A
J Med Genet; 2003 Mar; 40(3):188-91. PubMed ID: 12624137
[TBL] [Abstract][Full Text] [Related]
7. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Gerards M; Kamps R; van Oevelen J; Boesten I; Jongen E; de Koning B; Scholte HR; de Angst I; Schoonderwoerd K; Sefiani A; Ratbi I; Coppieters W; Karim L; de Coo R; van den Bosch B; Smeets H
Brain; 2013 Mar; 136(Pt 3):882-90. PubMed ID: 23423671
[TBL] [Abstract][Full Text] [Related]
8. Unusual findings in Leigh syndrome caused by T8993C mutation.
Yiş U; Seneca S; Dirik E; Kurul SH; Ozer E; Cakmakçi H; De Meirleir L
Eur J Paediatr Neurol; 2009 Nov; 13(6):550-2. PubMed ID: 19046652
[TBL] [Abstract][Full Text] [Related]
9. Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case.
Wang Z; Qi XK; Yao S; Chen B; Luan X; Zhang W; Han M; Yuan Y
Neuropathology; 2010 Dec; 30(6):606-14. PubMed ID: 20408961
[TBL] [Abstract][Full Text] [Related]
10. Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum.
Takada R; Tozawa T; Kondo H; Kizaki Z; Kishita Y; Okazaki Y; Murayama K; Ohtake A; Chiyonobu T
Brain Dev; 2020 Jan; 42(1):69-72. PubMed ID: 31500933
[TBL] [Abstract][Full Text] [Related]
11. MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.
Naess K; Freyer C; Bruhn H; Wibom R; Malm G; Nennesmo I; von Döbeln U; Larsson NG
Biochim Biophys Acta; 2009 May; 1787(5):484-90. PubMed ID: 19103152
[TBL] [Abstract][Full Text] [Related]
12. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.
Hung PC; Wang HS
Dev Med Child Neurol; 2007 Jan; 49(1):65-7. PubMed ID: 17209980
[TBL] [Abstract][Full Text] [Related]
13. Metabolic rescue in pluripotent cells from patients with mtDNA disease.
Ma H; Folmes CD; Wu J; Morey R; Mora-Castilla S; Ocampo A; Ma L; Poulton J; Wang X; Ahmed R; Kang E; Lee Y; Hayama T; Li Y; Van Dyken C; Gutierrez NM; Tippner-Hedges R; Koski A; Mitalipov N; Amato P; Wolf DP; Huang T; Terzic A; Laurent LC; Izpisua Belmonte JC; Mitalipov S
Nature; 2015 Aug; 524(7564):234-8. PubMed ID: 26176921
[TBL] [Abstract][Full Text] [Related]
14. Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.
Yu XL; Yan CZ; Ji KQ; Lin PF; Xu XB; Dai TJ; Li W; Zhao YY
Chin Med J (Engl); 2018 Nov; 131(22):2705-2712. PubMed ID: 30425197
[TBL] [Abstract][Full Text] [Related]
15. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan.
Pang CY; Huang CC; Yen MY; Wang EK; Kao KP; Chen SS; Wei YH
J Formos Med Assoc; 1999 May; 98(5):326-34. PubMed ID: 10420700
[TBL] [Abstract][Full Text] [Related]
16. [A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].
Wei XQ; Kong QP; Zhang Y; Yang YL; Chang XZ; Qi Y; Qi ZY; Xiao JX; Qin J; Wu XR
Zhongguo Dang Dai Er Ke Za Zhi; 2009 May; 11(5):333-6. PubMed ID: 19470250
[TBL] [Abstract][Full Text] [Related]
17. Mitochondrial DNA mutations in late-onset Leigh syndrome.
Wei Y; Cui L; Peng B
J Neurol; 2018 Oct; 265(10):2388-2395. PubMed ID: 30128709
[TBL] [Abstract][Full Text] [Related]
18. Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
Taylor RW; Morris AA; Hutchinson M; Turnbull DM
Eur J Hum Genet; 2002 Feb; 10(2):141-4. PubMed ID: 11938446
[TBL] [Abstract][Full Text] [Related]
19. [Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family].
Gutiérrez A; Saldaña-Martínez A; García-Ramírez R; Rayo-Mares D; Carreras M; López-Pérez MJ; Ruiz-Pesini E; Montoya J; Montiel-Sosa JF
Rev Neurol; 2009 Sep 1-15; 49(5):248-50. PubMed ID: 19714555
[TBL] [Abstract][Full Text] [Related]
20. Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.
Wang J; Brautbar A; Chan AK; Dzwiniel T; Li FY; Waters PJ; Graham BH; Wong LJ
Mol Genet Metab; 2009 Feb; 96(2):59-65. PubMed ID: 19062322
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
