@article{2a1996a830204960a4a69432f027177c,
title = "Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome",
keywords = "SARS2, aminoacyl-tRNA synthetase, seryl-tRNA synthetase, splicing defect, spastic paresis, SPINAL-CORD INVOLVEMENT, HUMAN-DISEASE, BRAIN-STEM, MUTATIONS, TRNA(SER(AGY)), RECOGNITION, DEFICIENCY, TRNAS(SER), EPILEPSY, 1184 Genetics, developmental biology, physiology, 3111 Biomedicine",
author = "Tarja Linnankivi and Nirajan Neupane and Uwe Richter and Pirjo Isohanni and Henna Tyynismaa",
year = "2016",
month = sep,
doi = "10.1002/humu.23021",
language = "English",
volume = "37",
pages = "884--888",
journal = "Human mutation",
issn = "1059-7794",
publisher = "John Wiley and Sons Inc.",
number = "9",
}