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Year Number of Results
2018 2
2019 12
2020 16
2021 12
2022 13
2023 7
2024 1

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56 results

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Page 1
7T MRI detects widespread brain iron deposition in neuroferritinopathy.
Murley AG, Rua C, Biggs H, Rodgers CT, Matys T, van den Ameele J, Horvath R, Chinnery PF. Murley AG, et al. Ann Clin Transl Neurol. 2024 Apr 1. doi: 10.1002/acn3.52053. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38561955 Free article.
Opportunities for mitochondrial disease gene therapy.
Viscomi C, van den Ameele J, Meyer KC, Chinnery PF. Viscomi C, et al. Nat Rev Drug Discov. 2023 Jun;22(6):429-430. doi: 10.1038/d41573-023-00067-z. Nat Rev Drug Discov. 2023. PMID: 37106085 No abstract available.
A consensus protocol for functional connectivity analysis in the rat brain.
Grandjean J, Desrosiers-Gregoire G, Anckaerts C, Angeles-Valdez D, Ayad F, Barrière DA, Blockx I, Bortel A, Broadwater M, Cardoso BM, Célestine M, Chavez-Negrete JE, Choi S, Christiaen E, Clavijo P, Colon-Perez L, Cramer S, Daniele T, Dempsey E, Diao Y, Doelemeyer A, Dopfel D, Dvořáková L, Falfán-Melgoza C, Fernandes FF, Fowler CF, Fuentes-Ibañez A, Garin CM, Gelderman E, Golden CEM, Guo CCG, Henckens MJAG, Hennessy LA, Herman P, Hofwijks N, Horien C, Ionescu TM, Jones J, Kaesser J, Kim E, Lambers H, Lazari A, Lee SH, Lillywhite A, Liu Y, Liu YY, López-Castro A, López-Gil X, Ma Z, MacNicol E, Madularu D, Mandino F, Marciano S, McAuslan MJ, McCunn P, McIntosh A, Meng X, Meyer-Baese L, Missault S, Moro F, Naessens DMP, Nava-Gomez LJ, Nonaka H, Ortiz JJ, Paasonen J, Peeters LM, Pereira M, Perez PD, Pompilus M, Prior M, Rakhmatullin R, Reimann HM, Reinwald J, Del Rio RT, Rivera-Olvera A, Ruiz-Pérez D, Russo G, Rutten TJ, Ryoke R, Sack M, Salvan P, Sanganahalli BG, Schroeter A, Seewoo BJ, Selingue E, Seuwen A, Shi B, Sirmpilatze N, Smith JAB, Smith C, Sobczak F, Stenroos PJ, Straathof M, Strobelt S, Sumiyoshi A, Takahashi K, Torres-García ME, Tudela R, van den Berg M, van der Marel K, … See abstract for full author list ➔ Grandjean J, et al. Nat Neurosci. 2023 Apr;26(4):673-681. doi: 10.1038/s41593-023-01286-8. Epub 2023 Mar 27. Nat Neurosci. 2023. PMID: 36973511 Free PMC article.
Cell lineage-specific mitochondrial resilience during mammalian organogenesis.
Burr SP, Klimm F, Glynos A, Prater M, Sendon P, Nash P, Powell CA, Simard ML, Bonekamp NA, Charl J, Diaz H, Bozhilova LV, Nie Y, Zhang H, Frison M, Falkenberg M, Jones N, Minczuk M, Stewart JB, Chinnery PF. Burr SP, et al. Cell. 2023 Mar 16;186(6):1212-1229.e21. doi: 10.1016/j.cell.2023.01.034. Epub 2023 Feb 23. Cell. 2023. PMID: 36827974 Free article.
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.
Kremer LS, Bozhilova LV, Rubalcava-Gracia D, Filograna R, Upadhyay M, Koolmeister C, Chinnery PF, Larsson NG. Kremer LS, et al. PLoS Genet. 2023 Jan 6;19(1):e1010573. doi: 10.1371/journal.pgen.1010573. eCollection 2023 Jan. PLoS Genet. 2023. PMID: 36608143 Free PMC article.
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.
Wei W, Schon KR, Elgar G, Orioli A, Tanguy M, Giess A, Tischkowitz M, Caulfield MJ, Chinnery PF. Wei W, et al. Nature. 2022 Nov;611(7934):105-114. doi: 10.1038/s41586-022-05288-7. Epub 2022 Oct 5. Nature. 2022. PMID: 36198798 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
56 results