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2025

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1985 1
1988 1
1989 1
1994 2
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2000 4
2001 3
2002 2
2003 2
2008 3
2009 3
2010 2
2011 1
2012 4
2013 3
2014 1
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Page 1
Mitochondrial Dysfunction in Kidney Tubulopathies.
Hoogstraten CA, Hoenderop JG, de Baaij JHF. Hoogstraten CA, et al. Annu Rev Physiol. 2024 Feb 12;86:379-403. doi: 10.1146/annurev-physiol-042222-025000. Epub 2023 Nov 27. Annu Rev Physiol. 2024. PMID: 38012047 Free article. Review.
In addition, mitochondrial cytopathies often affect renal (tubular) tissues, such as in Kearns-Sayre and Leigh syndromes. Nevertheless, the mechanisms by which mitochondrial dysfunction results in renal tubular diseases are only scarcely being explored. ...
In addition, mitochondrial cytopathies often affect renal (tubular) tissues, such as in Kearns-Sayre and Leigh syndromes. Nevertheles …
Mitochondrial DNA disorders.
Naviaux RK. Naviaux RK. Eur J Pediatr. 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. Eur J Pediatr. 2000. PMID: 11216904 Review.
The clinical phenotypes of mitochondrial tRNA disease span the spectrum of all known oxidative phosphorylation disorders and include MELAS, MERRF, Leigh syndrome, PEO, deafness, diabetes, sideroblastic anemia, myoclonus, skeletal myopathy, cardiomyopathy
The clinical phenotypes of mitochondrial tRNA disease span the spectrum of all known oxidative phosphorylation disorders and include …
The heart in m.3243A>G carriers.
Finsterer J, Zarrouk-Mahjoub S. Finsterer J, et al. Herz. 2020 Jun;45(4):356-361. doi: 10.1007/s00059-018-4739-6. Epub 2018 Aug 20. Herz. 2020. PMID: 30128910 Review. English.
RESULTS: The m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), myoclonic epilepsy with ragged red fiber (MERRF), Leigh syndrome, or …
RESULTS: The m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (ME …
Gene of the month: SDH.
Aldera AP, Govender D. Aldera AP, et al. J Clin Pathol. 2018 Feb;71(2):95-97. doi: 10.1136/jclinpath-2017-204677. Epub 2017 Oct 25. J Clin Pathol. 2018. PMID: 29070651 Review.
Germline mutations in SDHA are associated with Leigh syndrome. Mutations in SDHB, SDHC and SDHD are found in an increasing number of neoplasms, most notably paragangliomas and wild-type gastrointestinal stromal tumours. ...
Germline mutations in SDHA are associated with Leigh syndrome. Mutations in SDHB, SDHC and SDHD are found in an increasing num …
Lipoic acid biosynthesis defects.
Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W. Mayr JA, et al. J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705-8. Epub 2014 Apr 29. J Inherit Metab Dis. 2014. PMID: 24777537 Review.
Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined with a defect in mitochondrial energy metabolism with encephalopathy and cardiomyopathy. LIPT1 deficiency spares the GCS, and resulted i …
Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined wit …
Human cytochrome oxidase deficiency.
Robinson BH. Robinson BH. Pediatr Res. 2000 Nov;48(5):581-5. doi: 10.1203/00006450-200011000-00004. Pediatr Res. 2000. PMID: 11044474 Review.
Various phenotypic forms of cytochrome oxidase deficiency have been recognized, the major varieties involving degeneration of the brain stem and basal ganglia (Leigh syndrome) and lactic acidemia. Others include a fatal infantile form, a benign reversible form, and …
Various phenotypic forms of cytochrome oxidase deficiency have been recognized, the major varieties involving degeneration of the brain stem …
Leigh and Leigh-like syndrome in children and adults.
Finsterer J. Finsterer J. Pediatr Neurol. 2008 Oct;39(4):223-35. doi: 10.1016/j.pediatrneurol.2008.07.013. Pediatr Neurol. 2008. PMID: 18805359 Review.
Clinically, Leigh syndrome is characterized by a wide variety of abnormalities, from severe neurologic problems to a near absence of abnormalities. ...In the majority of cases, dysfunction of the respiratory chain (particularly complexes I, II, IV, or V), of coenzym …
Clinically, Leigh syndrome is characterized by a wide variety of abnormalities, from severe neurologic problems to a near abse …
Mitochondrial disorders.
Edmond JC. Edmond JC. Int Ophthalmol Clin. 2009 Summer;49(3):27-33. doi: 10.1097/IIO.0b013e3181a8de58. Int Ophthalmol Clin. 2009. PMID: 19584620 Review. No abstract available.
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP. Pastores GM, et al. Am J Med Genet. 1994 Apr 15;50(3):265-71. doi: 10.1002/ajmg.1320500310. Am J Med Genet. 1994. PMID: 8042671 Review.
Mutation of mitochondrial (mt) DNA at nucleotide (nt) 8993 has been reported to cause neurogenic weakness, ataxia, retinitis pigmentosa (NARP), or Leigh syndrome (LS). We report a family in whom the mutation was expressed clinically as LS and hypertrophic cardiom
Mutation of mitochondrial (mt) DNA at nucleotide (nt) 8993 has been reported to cause neurogenic weakness, ataxia, retinitis pigmentosa (NAR …
Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.
Wang SB, Weng WC, Lee NC, Hwu WL, Fan PC, Lee WT. Wang SB, et al. Pediatr Neonatol. 2008 Aug;49(4):145-9. doi: 10.1016/S1875-9572(08)60030-3. Pediatr Neonatol. 2008. PMID: 19054921 Free article. Review.
We report an 18-month-old girl, with an 11-month history of psychomotor regression who was diagnosed with WPW syndrome and hypertrophic cardiomyopathy, in association with Leigh syndrome. Supplementation with coenzyme Q10, thiamine and carnitine preven …
We report an 18-month-old girl, with an 11-month history of psychomotor regression who was diagnosed with WPW syndrome and hypertroph …
37 results