Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1982 1
1983 1
1985 2
1987 1
1988 5
1989 7
1990 7
1991 9
1992 7
1993 9
1994 5
1995 2
1996 6
1997 5
1998 5
1999 4
2000 1
2001 8
2002 12
2003 2
2004 2
2005 6
2006 4
2007 5
2008 4
2009 3
2010 2
2011 2
2012 7
2013 2
2014 6
2015 4
2016 9
2017 6
2018 5
2019 4
2020 5
2021 4
2022 4
2023 4
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

175 results

Results by year

Filters applied: . Clear all
Page 1
Mitochondrial Disorder: Kearns-Sayre Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:161-162. doi: 10.1007/978-3-319-95046-4_30. Adv Exp Med Biol. 2018. PMID: 30578503 Review.
Progressive external ophthalmoplegia.
Hirano M, Pitceathly RDS. Hirano M, et al. Handb Clin Neurol. 2023;194:9-21. doi: 10.1016/B978-0-12-821751-1.00018-X. Handb Clin Neurol. 2023. PMID: 36813323 Free PMC article. Review.
Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes. Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally he …
Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expand …
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) sometimes with earlier onset and increased severity (maternally inherited Leigh syndrome, MILS), single large-scale deletions determ …
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) …
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC. Yoshimi A, et al. Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. Orphanet J Rare Dis. 2022. PMID: 36253820 Free PMC article. Review.
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). ...Spontaneous resolution of anemia occurs in two-third of patients at the age of 1-3 years, while multisystem non-hematological complications su …
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). ...Sp …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
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. Neve …
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M. Brown DA, et al. Nat Rev Cardiol. 2017 Apr;14(4):238-250. doi: 10.1038/nrcardio.2016.203. Epub 2016 Dec 22. Nat Rev Cardiol. 2017. PMID: 28004807 Free PMC article. Review.
Mitochondrial encephalomyopathies.
Lombes A, Bonilla E, Dimauro S. Lombes A, et al. Rev Neurol (Paris). 1989;145(10):671-89. Rev Neurol (Paris). 1989. PMID: 2682927 Review.
The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), MERRF syndrome (myoclonic epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic a …
The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS) …
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 MELAS/K …
RESULTS: The m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (ME …
175 results