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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 2 |
2020 | 3 |
2021 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
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7 results
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Page 1
Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.
Int J Mol Sci. 2023 Jun 2;24(11):9698. doi: 10.3390/ijms24119698.
Int J Mol Sci. 2023.
PMID: 37298649
Free PMC article.
Review.
A subcellular cookie cutter for spatial genomics in human tissue.
Bury AG, Pyle A, Marcuccio F, Turnbull DM, Vincent AE, Hudson G, Actis P.
Bury AG, et al.
Anal Bioanal Chem. 2022 Jul;414(18):5483-5492. doi: 10.1007/s00216-022-03944-5. Epub 2022 Mar 2.
Anal Bioanal Chem. 2022.
PMID: 35233697
Free PMC article.
Item in Clipboard
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW.
Collier JJ, et al.
N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722.
N Engl J Med. 2021.
PMID: 34161705
Free PMC article.
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Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis.
Smith AL, Whitehall JC, Bradshaw C, Gay D, Robertson F, Blain AP, Hudson G, Pyle A, Houghton D, Hunt M, Sampson JN, Stamp C, Mallett G, Amarnath S, Leslie J, Oakley F, Wilson L, Baker A, Russell OM, Johnson R, Richardson CA, Gupta B, McCallum I, McDonald SA, Kelly S, Mathers JC, Heer R, Taylor RW, Perkins ND, Turnbull DM, Sansom OJ, Greaves LC.
Smith AL, et al.
Nat Cancer. 2020 Oct;1(10):976-989. doi: 10.1038/s43018-020-00112-5. Epub 2020 Sep 21.
Nat Cancer. 2020.
PMID: 33073241
Free PMC article.
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Severe neurodevelopmental disease caused by a homozygous TLK2 variant.
Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Güngör S, Lochmüller H, Hiz S, Horvath R.
Töpf A, et al.
Eur J Hum Genet. 2020 Mar;28(3):383-387. doi: 10.1038/s41431-019-0519-x.
Eur J Hum Genet. 2020.
PMID: 31558842
Free PMC article.
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Systematic review of cognitive deficits in adult mitochondrial disease.
Moore HL, Blain AP, Turnbull DM, Gorman GS.
Moore HL, et al.
Eur J Neurol. 2020 Jan;27(1):3-17. doi: 10.1111/ene.14068. Epub 2019 Oct 22.
Eur J Neurol. 2020.
PMID: 31448495
Free PMC article.
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Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.
Ng YS, et al.
Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.
Ann Neurol. 2019.
PMID: 31187502
Free PMC article.
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