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

Year Number of Results
1963 3
1964 2
1967 1
1968 1
1969 5
1970 1
1971 2
1972 4
1973 3
1974 3
1975 2
1976 7
1978 12
1979 7
1980 2
1981 5
1982 8
1983 11
1984 12
1985 21
1986 21
1987 32
1988 41
1989 53
1990 52
1991 67
1992 92
1993 107
1994 93
1995 134
1996 125
1997 125
1998 176
1999 206
2000 246
2001 321
2002 417
2003 311
2004 360
2005 398
2006 445
2007 491
2008 496
2009 551
2010 721
2011 722
2012 797
2013 900
2014 910
2015 864
2016 1004
2017 1132
2018 1023
2019 1106
2020 1360
2021 1547
2022 1001
2023 3
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16,431 results
Results by year
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Page 1
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Zweers H, van Wegberg AMJ, Janssen MCH, Wortmann SB. Zweers H, et al. Orphanet J Rare Dis. 2021 Jul 3;16(1):295. doi: 10.1186/s13023-021-01927-w. Orphanet J Rare Dis. 2021. PMID: 34217336 Free PMC article. Review.
BACKGROUND: No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. ...In 4 of 20 cases KD reversed the clinical phenotype (e.g. cardiomyopathy, movement disorder). In 5 adults with mitochondrial DNA de …
BACKGROUND: No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. . …
Mitochondrial diseases.
Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Gorman GS, et al. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Nat Rev Dis Primers. 2016. PMID: 27775730 Review.
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial protein
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and cau
Mitochondrial disease: genetics and management.
Ng YS, Turnbull DM. Ng YS, et al. J Neurol. 2016 Jan;263(1):179-91. doi: 10.1007/s00415-015-7884-3. Epub 2015 Aug 28. J Neurol. 2016. PMID: 26315846 Free PMC article. Review.
Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. ...In this review article we cover mitochondrial genetics and common neurological presentations associated with ad
Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1
Mitochondrial disease in adults: recent advances and future promise.
Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Ng YS, et al. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. Lancet Neurol. 2021. PMID: 34146515 Review.
Development of national mitochondrial disease cohorts and international collaborations has changed our knowledge of the spectrum of clinical phenotypes and natural history of mitochondrial diseases. Advances in high-throughput sequencing technologies h …
Development of national mitochondrial disease cohorts and international collaborations has changed our knowledge of the spectr …
Mitochondrial Diseases: Hope for the Future.
Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Russell OM, et al. Cell. 2020 Apr 2;181(1):168-188. doi: 10.1016/j.cell.2020.02.051. Epub 2020 Mar 26. Cell. 2020. PMID: 32220313 Free article. Review.
Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum of mutations in genes encoded by either the nuclear or the mitochondrial genome. ...This review focuses on the latest advances in the development of treatments for mito
Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum of mutations in genes encoded by eithe
Mitochondrial disease and epilepsy.
Rahman S. Rahman S. Dev Med Child Neurol. 2012 May;54(5):397-406. doi: 10.1111/j.1469-8749.2011.04214.x. Epub 2012 Jan 28. Dev Med Child Neurol. 2012. PMID: 22283595 Free article. Review.
It is not clear why some genetic defects, but not others, are particularly associated with seizures. Epilepsy may be the presenting feature of mitochondrial disease but is often part of a multisystem clinical presentation. ...At present there are no curative treatme …
It is not clear why some genetic defects, but not others, are particularly associated with seizures. Epilepsy may be the presenting feature …
Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions.
Protasoni M, Zeviani M. Protasoni M, et al. Int J Mol Sci. 2021 Jan 8;22(2):586. doi: 10.3390/ijms22020586. Int J Mol Sci. 2021. PMID: 33435522 Free PMC article. Review.
Mitochondrial defects are at the origin of a group of clinically heterogeneous pathologies, called mitochondrial diseases, with an incidence of 1 in 5000 live births. Primary mitochondrial diseases are associated with genetic mutations both in n
Mitochondrial defects are at the origin of a group of clinically heterogeneous pathologies, called mitochondrial diseases
Mitochondrial diseases.
Schapira AH. Schapira AH. Lancet. 2012 May 12;379(9828):1825-34. doi: 10.1016/S0140-6736(11)61305-6. Epub 2012 Apr 5. Lancet. 2012. PMID: 22482939 Review.
In the past few years, several disorders have been associated with mutations of nuclear genes responsible for mitochondrial DNA maintenance and function, and the potential contribution of mitochondrial abnormalities to progressive neurodegenerative diseases s …
In the past few years, several disorders have been associated with mutations of nuclear genes responsible for mitochondrial DNA maint …
Mitochondrial dynamics and their potential as a therapeutic target.
Whitley BN, Engelhart EA, Hoppins S. Whitley BN, et al. Mitochondrion. 2019 Nov;49:269-283. doi: 10.1016/j.mito.2019.06.002. Epub 2019 Jun 19. Mitochondrion. 2019. PMID: 31228566 Free PMC article. Review.
Imbalanced mitochondrial dynamics are associated with a range of diseases that are broadly characterized by impaired mitochondrial function and increased cell death. In various disease models, modulating mitochondrial fusion and division with ei …
Imbalanced mitochondrial dynamics are associated with a range of diseases that are broadly characterized by impaired mitoch
The genetics and pathology of mitochondrial disease.
Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. Alston CL, et al. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. J Pathol. 2017. PMID: 27659608 Free PMC article. Review.
There is no cure for mitochondrial disease for the vast majority of mitochondrial disease patients, and a genetic diagnosis is therefore crucial for genetic counselling and recurrence risk calculation, and can impact on the clinical management of affec …
There is no cure for mitochondrial disease for the vast majority of mitochondrial disease patients, and a geneti …
16,431 results
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