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Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNA ^Gly (MT-TG) Variant.
Yang H, Zhang VW, Ai L, Gan S, Wu L
Front Neurol, 13:795060, 30 Mar 2022
Cited by: 0 articles | PMID: 35432167 | PMCID: PMC9005803
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Progressive external ophthalmoplegia associated with novel MT-TN mutations.
Visuttijai K, Hedberg-Oldfors C, Lindgren U, Nordström S, Elíasdóttir Ó, Lindberg C, Oldfors A
Acta Neurol Scand, 143(1):103-108, 19 Sep 2020
Cited by: 9 articles | PMID: 32869280 | PMCID: PMC7756270
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Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNA^Gln m.4349C>T Variant.
Ji K, Wang W, Lin Y, Xu X, Liu F, Wang D, Zhao Y, Yan C
Ann Clin Transl Neurol, 7(6):980-991, 01 Jun 2020
Cited by: 3 articles | PMID: 32588991 | PMCID: PMC7318088
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Translation initiation in mammalian mitochondria- a prokaryotic perspective.
Ayyub SA, Varshney U
RNA Biol, 17(2):165-175, 14 Nov 2019
Cited by: 10 articles | PMID: 31696767 | PMCID: PMC6973315
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Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-Classic Forms.
Bahreini F, Houshmand M, Modarressi MH, Akrami SM
Cell J, 20(3):333-339, 15 May 2018
Cited by: 2 articles | PMID: 29845786 | PMCID: PMC6004991
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Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Fayssoil A, Laforêt P, Bougouin W, Jardel C, Lombès A, Bécane HM, Berber N, Stojkovic T, Béhin A, Eymard B, Duboc D, Wahbi K
Eur J Neurol, 24(2):255-261, 21 Nov 2016
Cited by: 22 articles | PMID: 27869334
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The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies.
Bandelt HJ, Kloss-Brandstätter A, Richards MB, Yao YG, Logan I
J Hum Genet, 59(2):66-77, 05 Dec 2013
Cited by: 46 articles | PMID: 24304692
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Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.
Fraidakis MJ, Jardel C, Allouche S, Nelson I, Auré K, Slama A, Lemière I, Thenint JP, Hamon JB, Zagnoli F, Heron D, Sedel F, Lombès A
Mitochondrion, 15:34-39, 29 Mar 2014
Cited by: 7 articles | PMID: 24691472
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Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases.
Remenyi V, Inczedy-Farkas G, Komlosi K, Horvath R, Maasz A, Janicsek I, Pentelenyi K, Gal A, Karcagi V, Melegh B, Molnar MJ
Mitochondrial DNA, 26(4):572-578, 17 Jan 2014
Cited by: 2 articles | PMID: 24438288
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A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy.
Jeppesen TD, Duno M, Risom L, Wibrand F, Rafiq J, Krag T, Jakobsen J, Andersen H, Vissing J
Neuromuscul Disord, 24(2):162-166, 20 Aug 2013
Cited by: 9 articles | PMID: 24161205
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Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.
Pinós T, Melià MJ, Ortiz N, Martinez-Vea A, Raventós-Estellé A, Gallardo E, Hernández-Losa J, Cámara Y, Andreu AL, García-Arumí E
Neuromuscul Disord, 23(4):330-336, 31 Jan 2013
Cited by: 1 article | PMID: 23375258
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Mitochondrial DNA variations in Madras motor neuron disease.
Govindaraj P, Nalini A, Krishna N, Sharath A, Khan NA, Tamang R, Gourie-Devi M, Brown RH, Thangaraj K
Mitochondrion, 13(6):721-728, 16 Feb 2013
Cited by: 3 articles | PMID: 23419391 | PMCID: PMC4805120
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Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.
Martikainen MH, Kytövuori L, Majamaa K
Mitochondrion, 13(2):83-86, 07 Feb 2013
Cited by: 11 articles | PMID: 23395828
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Mitochondria and peripheral neuropathies.
Vital A, Vital C
J Neuropathol Exp Neurol, 71(12):1036-1046, 01 Dec 2012
Cited by: 22 articles | PMID: 23147504
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Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.
Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM
Biochem Biophys Res Commun, 412(4):518-521, 29 Jun 2011
Cited by: 3 articles | PMID: 21741368
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A new mitochondrial point mutation in the transfer RNA(Lys) gene associated with progressive external ophthalmoplegia with impaired respiratory regulation.
Wolf J, Obermaier-Kusser B, Jacobs M, Milles C, Mörl M, von Pein HD, Grau AJ, Bauer MF
J Neurol Sci, 316(1-2):108-111, 10 Feb 2012
Cited by: 6 articles | PMID: 22326363
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The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
Ronchi D, Sciacco M, Bordoni A, Raimondi M, Ripolone M, Fassone E, Di Fonzo A, Rizzuti M, Ciscato P, Cosi A, Servida M, Moggio M, Corti S, Bresolin N, Comi GP
Eur J Hum Genet, 20(3):357-360, 21 Dec 2011
Cited by: 2 articles | PMID: 22189266 | PMCID: PMC3283170
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Skeletal muscle na channel disorders.
Simkin D, Bendahhou S
Front Pharmacol, 2:63, 14 Oct 2011
Cited by: 16 articles | PMID: 22016737 | PMCID: PMC3192954
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Uncovering the profile of somatic mtDNA mutations in Chinese colorectal cancer patients.
Wang CY, Li H, Hao XD, Liu J, Wang JX, Wang WZ, Kong QP, Zhang YP
PLoS One, 6(6):e21613, 28 Jun 2011
Cited by: 16 articles | PMID: 21738732 | PMCID: PMC3125228
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Mitochondrial disease in pregnancy: a systematic review.
Say RE, Whittaker RG, Turnbull HE, McFarland R, Taylor RW, Turnbull DM
Obstet Med, 4(3):90-94, 23 Jun 2011
Cited by: 13 articles | PMID: 27579099 | PMCID: PMC4989604
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A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.
Pinós T, Marotta M, Gallardo E, Illa I, Díaz-Manera J, Gonzalez-Vioque E, García-Arumí E, Andreu AL, Martí R
Mitochondrion, 11(1):228-233, 08 Sep 2010
Cited by: 8 articles | PMID: 20813205
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Mitochondrial haplogroups A and M7a confer a genetic risk for coronary atherosclerosis in the Japanese elderly: an autopsy study of 1,536 patients.
Sawabe M, Tanaka M, Chida K, Arai T, Nishigaki Y, Fuku N, Mieno MN, Kuchiba A, Tanaka N
J Atheroscler Thromb, 18(2):166-175, 19 Nov 2010
Cited by: 17 articles | PMID: 21099167
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A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.
Yan N, Cai S, Guo B, Mou Y, Zhu J, Chen J, Zhang T, Li R, Liu X
Mol Vis, 16:1736-1742, 25 Aug 2010
Cited by: 7 articles | PMID: 20806033 | PMCID: PMC2927373
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Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids.
Sikorska M, Sandhu JK, Simon DK, Pathiraja V, Sodja C, Li Y, Ribecco-Lutkiewicz M, Lanthier P, Borowy-Borowski H, Upton A, Raha S, Pulst SM, Tarnopolsky MA
Muscle Nerve, 40(3):381-394, 01 Sep 2009
Cited by: 20 articles | PMID: 19626676
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A disease-causing point mutation in human mitochondrial tRNAMet rsults in tRNA misfolding leading to defects in translational initiation and elongation.
Jones CN, Jones CI, Graham WD, Agris PF, Spremulli LL
J Biol Chem, 283(49):34445-34456, 03 Oct 2008
Cited by: 23 articles | PMID: 18835817 | PMCID: PMC2590712
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