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Year Number of Results
1979 1
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1993 1
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1996 3
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1998 4
1999 6
2000 7
2001 1
2002 7
2003 6
2004 5
2005 6
2006 5
2007 6
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2009 9
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2012 13
2013 14
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216 results

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Page 1
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. Baertling F, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. J Neurol Neurosurg Psychiatry. 2014. PMID: 23772060 Review.
Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of cognitive and motor functions. ...
Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterior …
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH. van de Wal MAE, et al. Brain. 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. Brain. 2022. PMID: 34849584 Free PMC article. Review.
This syndrome is an early-onset, often fatal, encephalopathy with a variable clinical presentation and poor prognosis due to the lack of effective intervention strategies. Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit …
This syndrome is an early-onset, often fatal, encephalopathy with a variable clinical presentation and poor prognosis due to the lack …
Mitochondrial Epilepsy, a Challenge for Neurologists.
Lopriore P, Gomes F, Montano V, Siciliano G, Mancuso M. Lopriore P, et al. Int J Mol Sci. 2022 Oct 30;23(21):13216. doi: 10.3390/ijms232113216. Int J Mol Sci. 2022. PMID: 36362003 Free PMC article. Review.
Treatment of mitochondrial epilepsy may be challenging, often representing a poor prognostic feature. This narrative review will cover the most recent advances in the field of mitochondrial epilepsy, from pathophysiology and genetic etiologies to phenotype and treatment op …
Treatment of mitochondrial epilepsy may be challenging, often representing a poor prognostic feature. This narrative review will cove …
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC. Alves CAPF, et al. AJNR Am J Neuroradiol. 2023 May;44(5):602-610. doi: 10.3174/ajnr.A7837. Epub 2023 Apr 6. AJNR Am J Neuroradiol. 2023. PMID: 37024306 Review.
Recognizing different patterns in MELAS presentations will enable clinical and research care teams to better understand the natural history and prognosis of MELAS and identify the best candidates for specific therapeutic interventions....
Recognizing different patterns in MELAS presentations will enable clinical and research care teams to better understand the natural history …
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435
In the largest patient collection to date, this study aimed to provide new insights into the clinical and genetic spectrum of LS, defect-specific associations, and predictors of disease course and survival. METHODS: Clinical, metabolic, neuroimaging, onset, and surv …
In the largest patient collection to date, this study aimed to provide new insights into the clinical and genetic spectrum of LS, defect-spe …
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.
Mutations in SDHB, SDHC and SDHD are found in an increasing number of neoplasms, most notably paragangliomas and wild-type gastrointestinal stromal tumours. SDH deficiency in these tumours has important prognostic implications, and also provides a novel target for molecula …
Mutations in SDHB, SDHC and SDHD are found in an increasing number of neoplasms, most notably paragangliomas and wild-type gastrointestinal …
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E. Ardissone A, et al. Eur J Neurol. 2023 Jul;30(7):2079-2091. doi: 10.1111/ene.15814. Epub 2023 Apr 25. Eur J Neurol. 2023. PMID: 37038312 Free article. Review.
Deep gray matter involvement, early disease onset, and specific phenotypes, such as Pearson syndrome and Leigh syndrome, represent unfavorable prognostic factors. Phenotypes related to single large scale mtDNA deletions appear to be very frequent in the pediatric populatio …
Deep gray matter involvement, early disease onset, and specific phenotypes, such as Pearson syndrome and Leigh syndrome, represent unfavorab …
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ, Ng YS, Blain A, Jiminez-Moreno C, Alston CL, Nesbitt V, Simmons L, Santra S, Wassmer E, Blakely EL, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Lim AZ, et al. Ann Neurol. 2022 Jan;91(1):117-130. doi: 10.1002/ana.26260. Epub 2021 Nov 12. Ann Neurol. 2022. PMID: 34716721 Free PMC article.
OBJECTIVE: This observational cohort study aims to quantify disease burden over time, establish disease progression rates, and identify factors that may determine the disease course of Leigh syndrome. METHODS: Seventy-two Leigh syndrome children who completed the Newcastle …
OBJECTIVE: This observational cohort study aims to quantify disease burden over time, establish disease progression rates, and identify fact …
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F, Lunetti P, Curcio R, Lasorsa FM, Capobianco L, Porcelli V, Dolce V, Fiermonte G, Scarcia P. Marra F, et al. Biomolecules. 2021 Nov 4;11(11):1633. doi: 10.3390/biom11111633. Biomolecules. 2021. PMID: 34827632 Free PMC article. Review.
NMDs are generally progressive and entail muscle weakness and fatigue. Muscular impairments can differ in onset, severity, prognosis, and phenotype. A multitude of possible injury sites can make diagnosis of NMDs difficult. ...
NMDs are generally progressive and entail muscle weakness and fatigue. Muscular impairments can differ in onset, severity, prognosis, …
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
Gerards M, Sallevelt SC, Smeets HJ. Gerards M, et al. Mol Genet Metab. 2016 Mar;117(3):300-12. doi: 10.1016/j.ymgme.2015.12.004. Epub 2015 Dec 19. Mol Genet Metab. 2016. PMID: 26725255 Review.
Most patients present with symptoms between the ages of three and twelve months, but adult onset Leigh syndrome has also been described. The disease course is characterized by a rapid deterioration of cognitive and motor functions, in most cases resulting in death due to r …
Most patients present with symptoms between the ages of three and twelve months, but adult onset Leigh syndrome has also been described. The …
216 results