Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jenni M. Elo"'
Autor:
Fowzan S. Alkuraya, Alexandra Götz, Michael Ibba, Leena Valanne, Anders Paetau, Helena Pihko, Christopher Carroll, Pirjo Isohanni, Eric M. Caruso, Liliya Euro, Johanna Uusimaa, Srujana S. Yadavalli, Jenni M. Elo, Henna Tyynismaa, Anu Suomalainen
Publikováno v:
Human Molecular Genetics. 21:4521-4529
Next-generation sequencing has turned out to be a powerful tool to uncover genetic basis of childhood mitochondrial disorders. We utilized whole-exome analysis and discovered novel compound heterozygous mutations in FARS2 (mitochondrial phenylalanyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::185ba9454bb67e49fe5c56da8d4a6b9a
https://doi.org/10.1093/hmg/dds294
https://doi.org/10.1093/hmg/dds294
Autor:
Anu Suomalainen, Kirsi H. Pietiläinen, Johanna Annunen-Rasila, Johanna Uusimaa, Helena Pihko, Laurence A. Bindoff, Henna Tyynismaa, Pirjo Isohanni, Mari Päivikki Korpela, Katrin Õunap, Ksenia Sevastianova, Niklas Darin, Sanna Marjavaara, Michio Hirano, Hannele Yki-Järvinen, Leo A. J. Kluijtmans, Anders Paetau, Aila Rissanen, Jenni M. Elo, Sari Kiuru-Enari, Jana Buzkova, Anna H. Hakonen, Jan A.M. Smeitink, Mar Tulinius, Tiina Tyni
Publikováno v:
Lancet Neurology, 10, 806-18
Lancet Neurology, 10, 9, pp. 806-18
Lancet Neurology, 10, 9, pp. 806-18
Contains fulltext : 95893.pdf (Publisher’s version ) (Closed access) BACKGROUND: Muscle biopsy is the gold standard for diagnosis of mitochondrial disorders because of the lack of sensitive biomarkers in serum. Fibroblast growth factor 21 (FGF-21)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb73c0b01e8f60fed700a5a1b973782
https://hdl.handle.net/2066/95893
https://hdl.handle.net/2066/95893