Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2015 | 1 |
2019 | 3 |
2020 | 4 |
2021 | 1 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
Mitochondrial disease in adults: recent advances and future promise.
Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3.
Lancet Neurol. 2021.
PMID: 34146515
Review.
Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss.
Dobson PF, Dennis EP, Hipps D, Reeve A, Laude A, Bradshaw C, Stamp C, Smith A, Deehan DJ, Turnbull DM, Greaves LC.
Dobson PF, et al.
Sci Rep. 2020 Jul 15;10(1):11643. doi: 10.1038/s41598-020-68566-2.
Sci Rep. 2020.
PMID: 32669663
Free PMC article.
Item in Clipboard
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW.
Alston CL, et al.
Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19.
Am J Hum Genet. 2020.
PMID: 31866046
Free PMC article.
Item in Clipboard
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Sommerville EW, Dalla Rosa I, Rosenberg MM, Bruni F, Thompson K, Rocha M, Blakely EL, He L, Falkous G, Schaefer AM, Yu-Wai-Man P, Chinnery PF, Hedstrom L, Spinazzola A, Taylor RW, Gorman GS.
Sommerville EW, et al.
Clin Genet. 2020 Feb;97(2):276-286. doi: 10.1111/cge.13652. Epub 2019 Nov 14.
Clin Genet. 2020.
PMID: 31600844
Free PMC article.
Item in Clipboard
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Balaraju S, Töpf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Nalini A, Lochmüller H.
Balaraju S, et al.
Eur J Hum Genet. 2020 Mar;28(3):373-377. doi: 10.1038/s41431-019-0506-2. Epub 2019 Sep 16.
Eur J Hum Genet. 2020.
PMID: 31527857
Free PMC article.
Item in Clipboard
Potential compounds for the treatment of mitochondrial disease.
Rai PK, Russell OM, Lightowlers RN, Turnbull DM.
Rai PK, et al.
Br Med Bull. 2015;116:5-18. doi: 10.1093/bmb/ldv046. Epub 2015 Nov 20.
Br Med Bull. 2015.
PMID: 26590387
Review.
Item in Clipboard
Cite
Cite