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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 7
2016 5
2017 5
2018 5
2019 2
2020 5
2021 3
2022 5
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40 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, 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: ylikallio e. Brain. 2021 Dec 27:awab484. doi: 10.1093/brain/awab484. Online ahead of print. Brain. 2021. PMID: 34957489
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.
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.
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
Attitudes towards genetic testing and information: does parenthood shape the views?
Saastamoinen A, Hyttinen V, Kortelainen M, Aaltio J, Auranen M, Ylikallio E, Lönnqvist T, Sainio M, Suomalainen A, Tyynismaa H, Isohanni P. Saastamoinen A, et al. Among authors: ylikallio e. J Community Genet. 2020 Oct;11(4):461-473. doi: 10.1007/s12687-020-00462-8. Epub 2020 Apr 4. J Community Genet. 2020. PMID: 32248430 Free PMC article.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H. Ylikallio E, et al. Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138. Brain. 2017. PMID: 28633435 Free article.
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons.
Harjuhaahto S, Rasila TS, Molchanova SM, Woldegebriel R, Kvist J, Konovalova S, Sainio MT, Pennonen J, Torregrosa-Muñumer R, Ibrahim H, Otonkoski T, Taira T, Ylikallio E, Tyynismaa H. Harjuhaahto S, et al. Among authors: ylikallio e. Neurobiol Dis. 2020 Jul;141:104940. doi: 10.1016/j.nbd.2020.104940. Epub 2020 May 11. Neurobiol Dis. 2020. PMID: 32437855 Free article.
40 results