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The International Journal of Biochemistry & Cell Biology|June 29, 2015
Exposure to arginine analog canavanine induces aberrant mitochondrial translation products, mitoribosome stalling, and instability of the mitochondrial proteomeSvetlana Konovalova, Taru Hilander, Fabricio Loayza-Puch, et al.
Neurogenetics|March 5, 2013
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in FinlandMari Auranen, Emil Ylikallio, Jussi Toppila, et al.
American Journal of Human Genetics|August 12, 2009
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletionsHenna Tyynismaa, Emil Ylikallio, Mehul Patel, et al.
Investigative Ophthalmology & Visual Science|October 3, 2002
A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish familiesHenna Tyynismaa, Pertti Sistonen, Sari Tuupanen, et al.
Human Molecular Genetics|October 31, 2008
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stallingSteffi Goffart, Helen M Cooper, Henna Tyynismaa, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegiaEmil Ylikallio, Doyoun Kim, Pirjo Isohanni, et al.
Protein Science : a Publication of the Protein Society|October 24, 2024
Preferential binding of ADP-bound mitochondrial HSP70 to the nucleotide exchange factor GRPEL1 over GRPEL2Pooja Manjunath, Gorazd Stojkovič, Liliya Euro, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 9, 2021
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1Vineta Fellman, Rishi Banerjee, Kai-Lan Lin, et al.
Neurology. Genetics|April 12, 2016
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth diseaseMari Auranen, Emil Ylikallio, Maria Shcherbii, et al.
Cell Reports|December 21, 2025
Integrated transcriptomic analysis reveals metabolic remodeling and gene expression networks related to human 8-cell-stage embryo-like cellsPauliina Paloviita, Sonja Nykänen, Sandra Harjuhaahto, et al.
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