Salla Pakanen

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis et al. · Journal of Clinical Investigation · 2010 · 118 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Digenic mutations in severe myoclonic epilepsy of infancy

Maija Bolszak, Anna‐Kaisa Anttonen, Tuomas Komulainen et al. · Epilepsy Research · 2009 · 25 citations

Medicine, Genetics, Neurology +14

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1

Jukka Pätsi, Pilvi Maliniemi, Salla Pakanen et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2011 · 21 citations

Life Sciences, Genetics, Molecular Biology +10

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

Tuomas Komulainen, Milla‐Riikka Hautakangas, Reetta Hinttala et al. · JIMD Reports · 2015 · 13 citations · Full text

Medicine, Genetics, Molecular Genetics +17