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

Year Number of Results
1968 1
1969 1
1976 1
1980 2
1981 4
1982 2
1984 3
1985 3
1986 2
1987 1
1988 4
1989 5
1990 1
1991 1
1992 3
1993 3
1994 2
1995 10
1996 4
1997 10
1998 9
1999 11
2000 9
2001 17
2002 27
2003 25
2004 17
2005 24
2006 25
2007 21
2008 27
2009 27
2010 43
2011 34
2012 42
2013 40
2014 52
2015 43
2016 54
2017 63
2018 68
2019 78
2020 101
2021 123
2022 116
2023 109
2024 55

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1,171 results

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Page 1
Friedreich's ataxia: clinical features, pathogenesis and management.
Cook A, Giunti P. Cook A, et al. Br Med Bull. 2017 Dec 1;124(1):19-30. doi: 10.1093/bmb/ldx034. Br Med Bull. 2017. PMID: 29053830 Free PMC article. Review.
In particular, the genetic and epigenetic mechanisms underlying the disease now offer promising novel therapeutic targets. AREAS OF CONTROVERSY: The search for effective disease-modifying agents continues. ...Phase II clinical trials in agents that address the abberrant si …
In particular, the genetic and epigenetic mechanisms underlying the disease now offer promising novel therapeutic targets. AREAS OF C …
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F. El-Hattab AW, et al. Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15. Mol Genet Metab. 2015. PMID: 26095523 Review.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. ...The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL …
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally in …
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.
Examinations of fresh muscle tissue or cultured fibroblasts are important tools to establish a biochemical and genetic diagnosis. Numerous causative mutations in mitochondrial and nuclear genes, encoding components of the oxidative phosphorylation system have been describe …
Examinations of fresh muscle tissue or cultured fibroblasts are important tools to establish a biochemical and genetic diagnosis. Numerous c …
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A. Karaa A, et al. Pediatr Diabetes. 2015 Feb;16(1):1-9. doi: 10.1111/pedi.12223. Epub 2014 Oct 20. Pediatr Diabetes. 2015. PMID: 25330715 Review.
Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. ...Diabetes is a prominent feature of several of these disorders which might be overlooked by the endocrinologist. We here review mitochondrial …
Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. ...Dia …
Diagnosis and Treatment of Mitochondrial Myopathies.
Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE. Ahmed ST, et al. Neurotherapeutics. 2018 Oct;15(4):943-953. doi: 10.1007/s13311-018-00674-4. Neurotherapeutics. 2018. PMID: 30406383 Free PMC article. Review.
Mitochondrial myopathies are progressive muscle conditions caused primarily by the impairment of oxidative phosphorylation (OXPHOS) in the mitochondria. ...However, there are currently no effective or disease-modifying treatments available for the vast majority of patients …
Mitochondrial myopathies are progressive muscle conditions caused primarily by the impairment of oxidative phosphorylation (OXPHOS) i …
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 adult …
Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 …
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK. Meyers DE, et al. Tex Heart Inst J. 2013;40(4):385-94. Tex Heart Inst J. 2013. PMID: 24082366 Free PMC article. Review.
Mitochondrial disease is a heterogeneous group of multisystemic diseases that develop consequent to mutations in nuclear or mitochondrial DNA. ...Because mitochondrial diseases often occur as a syndrome with resultant multiorgan dysfunction, the …
Mitochondrial disease is a heterogeneous group of multisystemic diseases that develop consequent to mutations in nuclear or …
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 recommendations for …
Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.
Barcelos I, Shadiack E, Ganetzky RD, Falk MJ. Barcelos I, et al. Curr Opin Pediatr. 2020 Dec;32(6):707-718. doi: 10.1097/MOP.0000000000000954. Curr Opin Pediatr. 2020. PMID: 33105273 Free PMC article. Review.
RECENT FINDINGS: Since publication of Mitochondrial Medicine Society guidelines for mitochondrial medicine therapies management in 2009, data has emerged to support consideration for using additional therapeutic agents and discontinuation of several pr …
RECENT FINDINGS: Since publication of Mitochondrial Medicine Society guidelines for mitochondrial medicine therapies ma …
COVID-19 and cardiac injury: clinical manifestations, biomarkers, mechanisms, diagnosis, treatment, and follow up.
Tajbakhsh A, Gheibi Hayat SM, Taghizadeh H, Akbari A, Inabadi M, Savardashtaki A, Johnston TP, Sahebkar A. Tajbakhsh A, et al. Expert Rev Anti Infect Ther. 2021 Mar;19(3):345-357. doi: 10.1080/14787210.2020.1822737. Epub 2020 Sep 28. Expert Rev Anti Infect Ther. 2021. PMID: 32921216 Review.
Thus, early measurements of cardiac damage via biomarkers following hospitalization for COVID-19 infections in a patient with preexisting CVD are recommended, together with careful monitoring of any myocardial injury that might be caused by the infection.Abbreviations: ICU: An in …
Thus, early measurements of cardiac damage via biomarkers following hospitalization for COVID-19 infections in a patient with preexisting CV …
1,171 results