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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. Neurol Genet. 2015 Mar 26;1(1):e1. doi: 10.1212/NXG.0000000000000003. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066538 Free PMC article.
Screening for late-onset Pompe disease in Finland.
Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B. Palmio J, et al. Neuromuscul Disord. 2014 Nov;24(11):982-5. doi: 10.1016/j.nmd.2014.06.438. Epub 2014 Jun 28. Neuromuscul Disord. 2014. PMID: 25047669
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. Among authors: kiuru enari s. J Neuromuscul Dis. 2016 Nov 29;3(4):475-485. doi: 10.3233/JND-160186. J Neuromuscul Dis. 2016. PMID: 27911336
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM. van den Boogaard ML, et al. Among authors: kiuru enari s. Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013. Am J Hum Genet. 2016. PMID: 27153398 Free PMC article.
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Õunap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H. Suomalainen A, et al. Lancet Neurol. 2011 Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7. Epub 2011 Aug 3. Lancet Neurol. 2011. PMID: 21820356 Free PMC article.
46 results