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

Year Number of Results
1981 1
1982 2
1986 2
1987 2
1989 2
1991 6
1992 3
1993 3
1994 7
1995 10
1996 1
1997 10
1998 4
1999 7
2000 11
2001 20
2002 24
2003 19
2004 26
2005 17
2006 21
2007 26
2008 25
2009 24
2010 41
2011 39
2012 60
2013 63
2014 56
2015 52
2016 73
2017 77
2018 79
2019 80
2020 88
2021 111
2022 107
2023 78
2024 21

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1,111 results

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Page 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.
Mitochondrial diseases are some of the most common inherited neurometabolic disorders, and major progress has been made in our understanding, diagnosis, and treatment of these conditions in the past 5 years. Development of national mitochondrial disease cohorts and …
Mitochondrial diseases are some of the most common inherited neurometabolic disorders, and major progress has been made in our understanding …
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 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. The prevalence of inherited mitochondrial disease has been estimated to be greater than 1 in 5,000 births; ho …
Mitochondrial disease is a heterogeneous group of multisystemic diseases that develop consequent to mutations in nuclear or mi …
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. ...This review discusses the classical mitochondrial syndromes presenting most frequently in childhood and then presents an organ-based perspective includ …
Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and genetic complexity. ...This review …
Cardiolipin, Mitochondria, and Neurological Disease.
Falabella M, Vernon HJ, Hanna MG, Claypool SM, Pitceathly RDS. Falabella M, et al. Trends Endocrinol Metab. 2021 Apr;32(4):224-237. doi: 10.1016/j.tem.2021.01.006. Epub 2021 Feb 24. Trends Endocrinol Metab. 2021. PMID: 33640250 Free PMC article. Review.
Mitochondrial disorders of the OXPHOS system.
Fernandez-Vizarra E, Zeviani M. Fernandez-Vizarra E, et al. FEBS Lett. 2021 Apr;595(8):1062-1106. doi: 10.1002/1873-3468.13995. Epub 2020 Dec 18. FEBS Lett. 2021. PMID: 33159691 Free article. Review.
The genetic cause underlying around half of the diagnosed mitochondrial disease cases is currently known. Many of these cases result from pathogenic variants in genes encoding structural subunits or additional factors directly involved in the assembly of the ETC com …
The genetic cause underlying around half of the diagnosed mitochondrial disease cases is currently known. Many of these cases …
Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.
Hubens WHG, Vallbona-Garcia A, de Coo IFM, van Tienen FHJ, Webers CAB, Smeets HJM, Gorgels TGMF. Hubens WHG, et al. Mitochondrion. 2022 Jan;62:187-204. doi: 10.1016/j.mito.2021.10.008. Epub 2021 Nov 2. Mitochondrion. 2022. PMID: 34740866 Free article. Review.
Although mitochondrial dysfunction is the known cause of primary mitochondrial disease, mitochondrial dysfunction is often difficult to measure and prove, especially when biopsies of affected tissue are not available. In order to identify blood biomarkers of mitocho …
Although mitochondrial dysfunction is the known cause of primary mitochondrial disease, mitochondrial dysfunction is often dif …
Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.
Stenton SL, Prokisch H. Stenton SL, et al. EBioMedicine. 2020 Jun;56:102784. doi: 10.1016/j.ebiom.2020.102784. Epub 2020 May 23. EBioMedicine. 2020. PMID: 32454403 Free PMC article. Review.
By capturing all genes, they not only increase the diagnostic rate in heterogenous mitochondrial disease patients, but accelerate novel disease gene discovery, and are valuable in side-stepping the risk of overlooking unexpected or even treatable genetic disease dia …
By capturing all genes, they not only increase the diagnostic rate in heterogenous mitochondrial disease patients, but acceler …
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC. Yoshimi A, et al. Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. Orphanet J Rare Dis. 2022. PMID: 36253820 Free PMC article. Review.
Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagnosis, which is established by detection of SLSMDs. Non hematological symptoms suggesting a mitochondrial disease are often lacking at initial …
Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagnosis, which is …
Mitochondrial encephalomyopathy.
Ng YS, McFarland R. Ng YS, et al. Handb Clin Neurol. 2023;195:563-585. doi: 10.1016/B978-0-323-98818-6.00025-X. Handb Clin Neurol. 2023. PMID: 37562887 Review.
Patients with mitochondrial disease can present at any age, ranging from neonatal onset to late adult life, with variable organ involvement and neurological manifestations including neurodevelopmental delay, seizures, stroke-like episodes, movement disorders, optic …
Patients with mitochondrial disease can present at any age, ranging from neonatal onset to late adult life, with variable orga …
1,111 results