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

Year Number of Results
2005 1
2009 1
2010 2
2011 1
2012 1
2013 4
2014 2
2015 6
2016 4
2017 5
2018 5
2019 2
2020 5
2021 2
2022 6
2023 4
2024 1

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43 results

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Page 1
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, Aydin HI, Ceylaner S, Drewes 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, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: ylikallio e. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
Sutinen A, Nguyen GTT, Raasakka A, Muruganandam G, Loris R, Ylikallio E, Tyynismaa H, Bartesaghi L, Ruskamo S, Kursula P. Sutinen A, et al. Among authors: ylikallio e. FEBS Open Bio. 2022 Jul;12(7):1306-1324. doi: 10.1002/2211-5463.13422. Epub 2022 May 20. FEBS Open Bio. 2022. PMID: 35509130 Free PMC article.
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: ylikallio e. 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.
Mechanisms of mitochondrial diseases.
Ylikallio E, Suomalainen A. Ylikallio E, et al. Ann Med. 2012 Feb;44(1):41-59. doi: 10.3109/07853890.2011.598547. Epub 2011 Aug 2. Ann Med. 2012. PMID: 21806499
Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.
Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin AL, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki AE, Piirilä P, Kiuru-Enari S. Ylikallio E, et al. J Neuromuscul Dis. 2016 Nov 29;3(4):475-485. doi: 10.3233/JND-160186. J Neuromuscul Dis. 2016. PMID: 27911336
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
Kenvin S, Torregrosa-Muñumer R, Reidelbach M, Pennonen J, Turkia JJ, Rannila E, Kvist J, Sainio MT, Huber N, Herukka SK, Haapasalo A, Auranen M, Trokovic R, Sharma V, Ylikallio E, Tyynismaa H. Kenvin S, et al. Among authors: ylikallio e. Hum Mol Genet. 2022 Mar 21;31(6):958-974. doi: 10.1093/hmg/ddab299. Hum Mol Genet. 2022. PMID: 34635923 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: ylikallio e. 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.
43 results