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Translational Neurodegeneration|April 14, 2022
Analysis of human brain tissue derived from DBS surgerySalla M Kangas, Jaakko Teppo, Maija J Lahtinen, et al.
Mitochondrion|February 2, 2025
Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findingsJaakko Oikarainen, Reetta Hinttala, Naemeh Nayebzadeh, et al.
Annals of Neurology|July 27, 2005
Secondary metabolic effects in complex I deficiencyNayla Esteitie, Reetta Hinttala, Rolf Wibom, et al.
Human Molecular Genetics|September 22, 2018
Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA diseaseTeija Paakkola, Kari Salokas, Ilkka Miinalainen, et al.
Epilepsy Research|April 11, 2009
Digenic mutations in severe myoclonic epilepsy of infancyMaija Bolszak, Anna-Kaisa Anttonen, Tuomas Komulainen, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|July 29, 2014
Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantationJohanna Hynynen, Tuomas Komulainen, Eija Tukiainen, et al.
Neurology. Genetics|October 23, 2025
A Novel Homozygous <i>KIF1C</i> Variant in 2 Cases of Spastic Ataxia Type 2Katariina Granath, Salla M Kangas, Sanna Huhtaniska, et al.
Epilepsia|February 26, 2008
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticusJohanna Uusimaa, Reetta Hinttala, Heikki Rantala, et al.
Cells|November 27, 2021
Modeling Rare Human Disorders in Mice: The Finnish Disease HeritageTomáš Zárybnický, Anne Heikkinen, Salla M Kangas, et al.
Human Molecular Genetics|April 26, 2015
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidaseReetta Hinttala, Florin Sasarman, Tamiko Nishimura, et al.
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