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BMC Medical Genetics|February 12, 2017
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial diseaseHeidi K Soini, Antti Väisänen, Mikko Kärppä, et al.Neuromuscular Disorders : NMD|February 24, 2026
Muscle biopsy and mitochondrial disease criteria as diagnostic tools for paediatric patients presenting with neuromuscular phenotypes: highlighting the role of secondary mitochondrial dysfunctionMilla-Riikka Hautakangas, Tommi Niskanen, Päivi Vieira, et al.Human Molecular Genetics|July 20, 2006
The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex IMarko Kervinen, Reetta Hinttala, Heli M Helander, et al.Biochimica Et Biophysica Acta|November 15, 2011
LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1Jukka Pätsi, Pilvi Maliniemi, Salla Pakanen, et al.Mitochondrion|March 4, 2010
Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coliReetta Hinttala, Marko Kervinen, Johanna Uusimaa, et al.BMC Neurology|May 5, 2010
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotypeTuomas Komulainen, Reetta Hinttala, Mikko Kärppä, et al.Eneuro|December 10, 2020
Transmembrane Prolyl 4-Hydroxylase is a Novel Regulator of Calcium Signaling in AstrocytesNadiya Byts, Subodh Sharma, Jenny Laurila, et al.Toxicology|March 10, 2015
Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell modelTuomas Komulainen, Tiffany Lodge, Reetta Hinttala, et al.The Pharmacogenomics Journal|May 3, 2023
DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?Tekla Harju, Anri Hurme-Niiranen, Maria Suo-Palosaari, et al.RSC Advances|September 11, 2024
Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin functionTuomas Mansikkala, Salla M Kangas, Ilkka Miinalainen, et al.Pageof 6