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

Year Number of Results
2000 2
2002 1
2003 1
2004 1
2005 1
2006 1
2008 1
2009 4
2010 7
2011 6
2012 4
2013 6
2014 4
2015 11
2016 6
2017 5
2018 9
2019 6
2020 6
2021 5
2022 8
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81 results
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Page 1
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ. Lepelley A, et al. Among authors: tyynismaa h. J Exp Med. 2021 Oct 4;218(10):e20201560. doi: 10.1084/jem.20201560. Epub 2021 Aug 13. J Exp Med. 2021. PMID: 34387651 Free PMC article.
Metabolic determination of cell fate through selective inheritance of mitochondria.
Döhla J, Kuuluvainen E, Gebert N, Amaral A, Englund JI, Gopalakrishnan S, Konovalova S, Nieminen AI, Salminen ES, Torregrosa Muñumer R, Ahlqvist K, Yang Y, Bui H, Otonkoski T, Käkelä R, Hietakangas V, Tyynismaa H, Ori A, Katajisto P. Döhla J, et al. Among authors: tyynismaa h. Nat Cell Biol. 2022 Feb;24(2):148-154. doi: 10.1038/s41556-021-00837-0. Epub 2022 Feb 14. Nat Cell Biol. 2022. PMID: 35165416 Free PMC article.
A Metabolic Vulnerability of Vision.
Tyynismaa H. Tyynismaa H. N Engl J Med. 2019 Oct 10;381(15):1474-1476. doi: 10.1056/NEJMe1910322. Epub 2019 Sep 11. N Engl J Med. 2019. PMID: 31509668 No abstract available.
Mitochondrial aminoacyl-tRNA synthetases in human disease.
Konovalova S, Tyynismaa H. Konovalova S, et al. Among authors: tyynismaa h. Mol Genet Metab. 2013 Apr;108(4):206-11. doi: 10.1016/j.ymgme.2013.01.010. Epub 2013 Jan 26. Mol Genet Metab. 2013. PMID: 23433712 Review.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Ibrahim Aydin H, Ceylaner S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: tyynismaa h. Brain. 2021 Dec 27:awab484. doi: 10.1093/brain/awab484. Online ahead of print. Brain. 2021. PMID: 34957489
Mouse models of mtDNA replication diseases.
Tyynismaa H, Suomalainen A. Tyynismaa H, et al. Methods. 2010 Aug;51(4):405-10. doi: 10.1016/j.ymeth.2010.03.009. Epub 2010 Apr 10. Methods. 2010. PMID: 20385238 Review.
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Rönkkö J, Molchanova S, Revah-Politi A, Pereira EM, Auranen M, Toppila J, Kvist J, Ludwig A, Neumann J, Bultynck G, Humblet-Baron S, Liston A, Paetau A, Rivera C, Harms MB, Tyynismaa H, Ylikallio E. Rönkkö J, et al. Among authors: tyynismaa h. Ann Clin Transl Neurol. 2020 Oct;7(10):1962-1972. doi: 10.1002/acn3.51190. Epub 2020 Sep 19. Ann Clin Transl Neurol. 2020. PMID: 32949214 Free PMC article.
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H. Sainio MT, et al. Among authors: tyynismaa h. J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515627 Free PMC article.
81 results