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
1989 1
1990 1
1993 2
1998 2
1999 2
2000 3
2001 2
2002 1
2004 2
2007 1
2008 1
2009 2
2010 1
2011 3
2012 6
2013 2
2014 1
2015 2
2017 1
2018 1
2019 1
2020 2
2021 1
2022 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

38 results

Results by year

Filters applied: . Clear all
Your search was processed without automatic term mapping because it retrieved zero results.
Page 1
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.
Dysfunction of these organelles is linked to a heterogeneous group of multisystemic disorders, including diabetes, cancer, ageing-related pathologies and rare mitochondrial diseases. With respect to the latter, mutations in subunit-encoding genes and assembly factors of th …
Dysfunction of these organelles is linked to a heterogeneous group of multisystemic disorders, including diabetes, cancer, ageing-related pa …
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.
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the citric acid cycle and the electron transfer chain. Germline mutations in SDHA are associated with Leigh syndrome. Mutations in S …
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the ci …
Leigh syndrome: neuropathology and pathogenesis.
Lake NJ, Bird MJ, Isohanni P, Paetau A. Lake NJ, et al. J Neuropathol Exp Neurol. 2015 Jun;74(6):482-92. doi: 10.1097/NEN.0000000000000195. J Neuropathol Exp Neurol. 2015. PMID: 25978847 Review.
Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial disease. ...
Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial disease. ...
Complex I deficiency: clinical features, biochemistry and molecular genetics.
Fassone E, Rahman S. Fassone E, et al. J Med Genet. 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. J Med Genet. 2012. PMID: 22972949 Review.
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised by marked clinical and genetic hetero
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of c
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.
Roestenberg P, Manjeri GR, Valsecchi F, Smeitink JA, Willems PH, Koopman WJ. Roestenberg P, et al. Mitochondrion. 2012 Jan;12(1):57-65. doi: 10.1016/j.mito.2011.06.011. Epub 2011 Jul 2. Mitochondrion. 2012. PMID: 21757032 Review.
Complex I (CI) represents a major entry point of electrons in the mitochondrial electron transport chain (ETC). It consists of 45 different subunits, encoded by the mitochondrial (mtDNA) and nuclear DNA (nDNA). In humans, mutations in nDNA-encoded subunits ca
Complex I (CI) represents a major entry point of electrons in the mitochondrial electron transport chain (ETC). It consists of
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.
Blanchet L, Buydens MC, Smeitink JA, Willems PH, Koopman WJ. Blanchet L, et al. Curr Pharm Des. 2011 Dec 1;17(36):4023-33. doi: 10.2174/138161211798764870. Curr Pharm Des. 2011. PMID: 22188452 Review.
Isolated deficiency of mitochondrial complex I (CI), the first complex of the oxidative phosphorylation (OXPHOS) system, can arise from mutations in nuclear DNA (nDNA)-encoded subunits. ...Our results highlight a connection between CI deficiency
Isolated deficiency of mitochondrial complex I (CI), the first complex of the oxidative phosphorylation (OXPHOS) …
Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.
Tragni V, Primiano G, Tummolo A, Cafferati Beltrame L, La Piana G, Sgobba MN, Cavalluzzi MM, Paterno G, Gorgoglione R, Volpicella M, Guerra L, Marzulli D, Servidei S, De Grassi A, Petrosillo G, Lentini G, Pierri CL. Tragni V, et al. Molecules. 2022 May 29;27(11):3494. doi: 10.3390/molecules27113494. Molecules. 2022. PMID: 35684429 Free PMC article. Review.
Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding mitochondrial proteins, or non-protein-coding mitochondrial RNA. ...
Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding mitochondrial
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP. Loeffen JL, et al. Hum Mutat. 2000;15(2):123-34. doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. Hum Mutat. 2000. PMID: 10649489 Review.
Isolated complex I deficiency is one of the most frequently observed disturbance of the OXPHOS system. ...Finally, considering information currently available, isolated complex I deficiency in children seems to be caused in the majority by mutations in …
Isolated complex I deficiency is one of the most frequently observed disturbance of the OXPHOS system. ...Finally, considering …
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. ...The three genes indicted, SURF1 for Leigh syndrom
Various phenotypic forms of cytochrome oxidase deficiency have been recognized, the major varieties involving degeneration of the bra …
Neuropathology of mitochondrial diseases.
Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A. Filosto M, et al. Biosci Rep. 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3. Biosci Rep. 2007. PMID: 17541738 Review.
The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. ...Grey matter lesions are prevalent in MERRF, MELAS, Alpers and Leigh syndromes. White matter involvement is always seen in Kearns-Sayre syndrome
The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. ...Grey matter lesion …
38 results