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179 results

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The following terms were not found in PubMed: myopathy-cerebellar, ataxia-pigmentary
Page 1
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 …
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 retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS) associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which are the …
The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS) associated with mitochondrial impairment. Reti
Mitochondrial Disorder: Kearns-Sayre Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:161-162. doi: 10.1007/978-3-319-95046-4_30. Adv Exp Med Biol. 2018. PMID: 30578503 Review.
Mitochondrial diseases are multisystem disorders: anemia, myopathy, lactic acidosis, CNS abnormality, endocrine abnormalities, renal disease, sensorineural deafness, and retinal involvement. ...Other variable features are short stature; cerebellar symptoms; w
Mitochondrial diseases are multisystem disorders: anemia, myopathy, lactic acidosis, CNS abnormality, endocrine abnormalities,
Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P. Carelli V, et al. Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. Handb Clin Neurol. 2023. PMID: 36813316 Review.
LHON and DOA are both characterized by selective neurodegeneration of retinal ganglion cells (RGCs) triggered by mitochondrial dysfunction. ...All forms of mitochondrial optic neuropathies, including LHON and DOA, can manifest either as pure optic atrophy or …
LHON and DOA are both characterized by selective neurodegeneration of retinal ganglion cells (RGCs) triggered by mitochondrial
Diabetic vascular diseases: molecular mechanisms and therapeutic strategies.
Li Y, Liu Y, Liu S, Gao M, Wang W, Chen K, Huang L, Liu Y. Li Y, et al. Signal Transduct Target Ther. 2023 Apr 10;8(1):152. doi: 10.1038/s41392-023-01400-z. Signal Transduct Target Ther. 2023. PMID: 37037849 Free PMC article. Review.
Cardiac, cerebral, and peripheral microangiopathy coexist with microangiopathy, while renal and retinal are predominantly microangiopathic. The following associations exist between DPDs: numerous similar molecular mechanisms, and risk-predictive relationships between di
Cardiac, cerebral, and peripheral microangiopathy coexist with microangiopathy, while renal and retinal are predominantly microangiop …
Cockayne syndrome: Clinical features, model systems and pathways.
Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Karikkineth AC, et al. Ageing Res Rev. 2017 Jan;33:3-17. doi: 10.1016/j.arr.2016.08.002. Epub 2016 Aug 6. Ageing Res Rev. 2017. PMID: 27507608 Free PMC article. Review.
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambula …
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurologica …
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.
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). ...Some patients with PS experience a phenotypical change to Kearns-Sayre syndrome. In the absence of curative therapy, the …
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions ( …
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M. Brown DA, et al. Nat Rev Cardiol. 2017 Apr;14(4):238-250. doi: 10.1038/nrcardio.2016.203. Epub 2016 Dec 22. Nat Rev Cardiol. 2017. PMID: 28004807 Free PMC article. Review.
Mitochondrial abnormalities include impaired mitochondrial electron transport chain activity, increased formation of reactive oxygen species, shifted metabolic substrate utilization, aberrant mitochondrial dynamics, and altered ion homeostasis. In this Consen
Mitochondrial abnormalities include impaired mitochondrial electron transport chain activity, increased formation of reactive
Monogenic Causes of Strokes.
Chojdak-Łukasiewicz J, Dziadkowiak E, Budrewicz S. Chojdak-Łukasiewicz J, et al. Genes (Basel). 2021 Nov 23;12(12):1855. doi: 10.3390/genes12121855. Genes (Basel). 2021. PMID: 34946804 Free PMC article. Review.
Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myop …
Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are c …
The Eye on Mitochondrial Disorders.
Finsterer J, Zarrouk-Mahjoub S, Daruich A. Finsterer J, et al. J Child Neurol. 2016 Apr;31(5):652-62. doi: 10.1177/0883073815599263. Epub 2015 Aug 14. J Child Neurol. 2016. PMID: 26275973 Free article. Review.
The eye is frequently affected by syndromic as well as nonsyndromic mitochondrial disorders. Primary and secondary ophthalmologic manifestations can be differentiated. The most frequent ophthalmologic manifestations of mitochondrial disorders include ptosis, …
The eye is frequently affected by syndromic as well as nonsyndromic mitochondrial disorders. Primary and secondary ophthalmolo …
179 results