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Pediatric Research|March 29, 2012
Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutationAlexandra Götz, Pirjo Isohanni, Brita Liljeström, et al.
Pediatric Research|July 17, 2012
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomaliesTiina Ojala, Padmini Polinati, Tuula Manninen, et al.
European Journal of Human Genetics : EJHG|July 3, 2014
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletionSanna Matilainen, Pirjo Isohanni, Liliya Euro, et al.
Clinical and Translational Medicine|July 18, 2025
PDK4 and nutrient responses explain muscle specific manifestation in mitochondrial diseaseSwagat Pradhan, Takayuki Mito, Nahid A Khan, et al.
Frontiers in Neurology|November 29, 2023
Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle diseaseNadja Ratia, Edouard Palu, Hanna Lantto, et al.
Stem Cells and Development|June 8, 2012
Small molecule inhibitors promote efficient generation of induced pluripotent stem cells from human skeletal myoblastsRas Trokovic, Jere Weltner, Tuula Manninen, et al.
Differentiation; Research in Biological Diversity|May 8, 2010
CIP2A increases self-renewal and is linked to Myc in neural progenitor cellsLaura Kerosuo, Heli Fox, Nina Perälä, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 2, 2021
Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of childrenJuho Aaltio, Virva Hyttinen, Mika Kortelainen, et al.
Biochimica Et Biophysica Acta|March 4, 2008
Differential metabolic consequences of fumarate hydratase and respiratory chain defectsNuno Raimundo, Jouni Ahtinen, Ksenija Fumić, et al.
European Journal of Human Genetics : EJHG|July 26, 2021
IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorderAnna Kuukasjärvi, Juan C Landoni, Jyrki Kaukonen, et al.
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