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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
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46 results

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Page 1
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism.
Harjuhaahto S, Jokela M, Rajendran J, Rokka M, Hu B, Kvist J, Zhang F, Zárybnický T, Haimilahti K, Euro L, Pirinen E, Huber N, Herukka SK, Haapasalo A, Kuuluvainen E, Gopalakrishnan S, Katajisto P, Hietakangas V, Burg T, Van Den Bosch L, Huang X, Narendra DP, Kuure S, Ylikallio E, Tyynismaa H. Harjuhaahto S, et al. Among authors: ylikallio e. Acta Neuropathol Commun. 2025 May 22;13(1):111. doi: 10.1186/s40478-025-02039-3. Acta Neuropathol Commun. 2025. PMID: 40400037 Free PMC article.
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 Free 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
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.
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.
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.
Auranen M, Ylikallio E, Shcherbii M, Paetau A, Kiuru-Enari S, Toppila JP, Tyynismaa H. Auranen M, et al. Among authors: ylikallio e. Neurol Genet. 2015 Mar 26;1(1):e1. doi: 10.1212/NXG.0000000000000003. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066538 Free PMC article.
46 results