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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 723
2012 797
2013 900
2014 910
2015 864
2016 1004
2017 1134
2018 1023
2019 1106
2020 1360
2021 1552
2022 1238
2023 1196
2024 222

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17,855 results

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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.
One of the challenges of mitochondrial diseases is the marked clinical variation seen in patients, which can delay diagnosis. ...The treatment of patients with mitochondrial diseases remains a challenge, but guidelines are available to manage the compl …
One of the challenges of mitochondrial diseases is the marked clinical variation seen in patients, which can delay diagnosis. …
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 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
Mitochondria and Parkinson's Disease: Clinical, Molecular, and Translational Aspects.
Borsche M, Pereira SL, Klein C, Grünewald A. Borsche M, et al. J Parkinsons Dis. 2021;11(1):45-60. doi: 10.3233/JPD-201981. J Parkinsons Dis. 2021. PMID: 33074190 Free PMC article. Review.
Mitochondrial dysfunction represents a well-established player in the pathogenesis of both monogenic and idiopathic Parkinson's disease (PD). Initially originating from the observation that mitochondrial toxins cause PD, findings from genetic PD supported a c
Mitochondrial dysfunction represents a well-established player in the pathogenesis of both monogenic and idiopathic Parkinson's di
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
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Parikh S, et al. Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503498 Free PMC article. Review.
PURPOSE: The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. ...We hope that these recommendations will help standardize the evaluation, diagnosis, and care of …
PURPOSE: The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendati …
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 disease in children.
Rahman S. Rahman S. J Intern Med. 2020 Jun;287(6):609-633. doi: 10.1111/joim.13054. Epub 2020 Apr 7. J Intern Med. 2020. PMID: 32176382 Free article. Review.
Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and genetic complexity. ...The field of mitochondrial medicine has made enormous strides in the last 30 years, with approaching 400 different genes across two genomes now
Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and genetic complexity. ...The field o
The potential of mitochondrial genome engineering.
Silva-Pinheiro P, Minczuk M. Silva-Pinheiro P, et al. Nat Rev Genet. 2022 Apr;23(4):199-214. doi: 10.1038/s41576-021-00432-x. Epub 2021 Dec 2. Nat Rev Genet. 2022. PMID: 34857922 Review.
In humans, mutations in mtDNA can lead to devastating, heritable, multi-system diseases that display different tissue-specific presentation at any stage of life. Despite rapid advances in nuclear genome engineering, for years, mammalian mtDNA has remained resistant to gene …
In humans, mutations in mtDNA can lead to devastating, heritable, multi-system diseases that display different tissue-specific presen …
17,855 results
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