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1992 1
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2001 7
2002 4
2003 2
2004 2
2005 1
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2008 1
2009 1
2010 1
2011 3
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53 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.
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. ...Here, we review the most important clinical aspects of Leigh syndrome, and discuss diagnostic steps as well as treatment options.. …
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. ...Here …
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.
Epilepsy affects >1% of the worldwide population, making it one of the most common neurological illnesses; it may be the presenting feature of a mitochondrial disease, but is often part of a multisystem clinical presentation. The major genetic causes of mitochondrial ep …
Epilepsy affects >1% of the worldwide population, making it one of the most common neurological illnesses; it may be the presenting featu …
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.
Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4) of complex I, induce 'mitochondrial complex I deficiency, nuclear type 1' (MC1DN1) and Leigh syndrome in paediatric patients …
Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4) of co …
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 de …
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa …
Mitochondrial Neurodegeneration.
Zeviani M, Viscomi C. Zeviani M, et al. Cells. 2022 Feb 11;11(4):637. doi: 10.3390/cells11040637. Cells. 2022. PMID: 35203288 Free PMC article. Review.
Four complexes (CI, CIII, CIV, and CV) are composed of proteins encoded by genes present in two separate compartments: the nuclear genome and a small circular DNA found in mitochondria themselves, and are termed mitochondrial DNA (mtDNA). ...In this paper, we …
Four complexes (CI, CIII, CIV, and CV) are composed of proteins encoded by genes present in two separate compartments: the nuclear ge …
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H. Schmiedel J, et al. J Neurol. 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. J Neurol. 2003. PMID: 12638015 Review.
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorders which preferentially affect the muscle and nervous systems. They are caused either by mutations in the maternally inherited mitochondrial genome, or by nuclear DNA-mutations …
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorders which preferentially affect the muscle and nervous system …
OXPHOS mutations and neurodegeneration.
Koopman WJ, Distelmaier F, Smeitink JA, Willems PH. Koopman WJ, et al. EMBO J. 2013 Jan 9;32(1):9-29. doi: 10.1038/emboj.2012.300. Epub 2012 Nov 13. EMBO J. 2013. PMID: 23149385 Free PMC article. Review.
The OXPHOS system consists of 5 multisubunit complexes (CI-CV) that are built up of 92 different structural proteins encoded by the nuclear (nDNA) and mitochondrial DNA (mtDNA). Biogenesis of a functional OXPHOS system further requires the assistance of nDNA-encoded …
The OXPHOS system consists of 5 multisubunit complexes (CI-CV) that are built up of 92 different structural proteins encoded by the nucle …
Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations.
Zhunina OA, Yabbarov NG, Grechko AV, Yet SF, Sobenin IA, Orekhov AN. Zhunina OA, et al. Curr Pharm Des. 2020;26(1):103-109. doi: 10.2174/1381612825666191122091320. Curr Pharm Des. 2020. PMID: 31755379 Review.
Impaired mitochondrial function associated with oxidative stress can be a result of both nuclear and mitochondrial DNA (mtDNA) mutations. Neurological disorders associated with mtDNA mutations include mitochondrial encephalomyopathy, chronic progressiv …
Impaired mitochondrial function associated with oxidative stress can be a result of both nuclear and mitochondrial DNA (mtDNA) …
Movement disorders in mitochondrial diseases.
Tranchant C, Anheim M. Tranchant C, et al. Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28. Rev Neurol (Paris). 2016. PMID: 27476418 Review.
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. ...Myoclonus is a key feature …
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA …
The genetics of mitochondrial disease.
Davis RL, Sue CM. Davis RL, et al. Semin Neurol. 2011 Nov;31(5):519-30. doi: 10.1055/s-0031-1299790. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266889 Review.
The discovery that defects in mitochondria and mitochondrial DNA could cause human disease has led to the development of a rapidly expanding group of disorders known as mitochondrial disease. ...ATP is generated by the respiratory chain, a series of complex p …
The discovery that defects in mitochondria and mitochondrial DNA could cause human disease has led to the development of a rap …
53 results