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Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Komulainen-Ebrahim J, Kangas SM, López-Martín E, Feyma T, Scaglia F, Martínez-Delgado B, Kuismin O, Suo-Palosaari M, Carr L, Hinttala R, Kurian MA, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: uusimaa j. Mov Disord Clin Pract. 2024 Jun;11(6):708-715. doi: 10.1002/mdc3.14051. Epub 2024 May 2. Mov Disord Clin Pract. 2024. PMID: 38698576 Free PMC article.
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Kang Y, Hepojoki J, Maldonado RS, Mito T, Terzioglu M, Manninen T, Kant R, Singh S, Othman A, Verma R, Uusimaa J, Wartiovaara K, Kareinen L, Zamboni N, Nyman TA, Paetau A, Kipar A, Vapalahti O, Suomalainen A. Kang Y, et al. Among authors: uusimaa j. Nature. 2024 Apr;628(8009):844-853. doi: 10.1038/s41586-024-07260-z. Epub 2024 Apr 3. Nature. 2024. PMID: 38570685 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. Among authors: uusimaa j. 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.
Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland.
Löppönen T, Väisänen ML, Luotonen M, Allinen M, Uusimaa J, Lindholm P, Mäki-Torkko E, Väyrynen M, Löppönen H, Leisti J. Löppönen T, et al. Among authors: uusimaa j. Laryngoscope. 2003 Oct;113(10):1758-63. doi: 10.1097/00005537-200310000-00018. Laryngoscope. 2003. PMID: 14520102
Insights into pancreatic β cell energy metabolism using rodent β cell models.
Morten KJ, Potter M, Badder L, Sivathondan P, Dragovic R, Neumann A, Gavin J, Shrestha R, Reilly S, Phadwal K, Lodge TA, Borzychowski A, Cookson S, Mitchell C, Morovat A, Simon AK, Uusimaa J, Hynes J, Poulton J. Morten KJ, et al. Among authors: uusimaa j. Wellcome Open Res. 2019 Sep 25;2:14. doi: 10.12688/wellcomeopenres.10535.3. eCollection 2017. Wellcome Open Res. 2019. PMID: 31754635 Free PMC article.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. Among authors: uusimaa j. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
A multicenter study on Leigh syndrome: disease course and predictors of survival.
Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, De Angst IB, Lönnqvist T, Pihko H, Mankinen K, Bindoff LA, Tulinius M, Darin N. Sofou K, et al. Among authors: uusimaa j. Orphanet J Rare Dis. 2014 Apr 15;9:52. doi: 10.1186/1750-1172-9-52. Orphanet J Rare Dis. 2014. PMID: 24731534 Free PMC article.
91 results