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Mari Auranen

Showing results (41-50 of 51) with videos related to

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Human Molecular Genetics|October 12, 2021
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolismSebastian Kenvin, Ruben Torregrosa-Muñumer, Marco Reidelbach, et al.
Annals of Clinical and Translational Neurology|September 19, 2020
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth diseaseJulius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, et al.
Cell Metabolism|May 11, 2020
Niacin Cures Systemic NAD<sup>+</sup> Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial MyopathyEija Pirinen, Mari Auranen, Nahid A Khan, et al.
Cell Metabolism|September 17, 2019
Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA DeletionsSaara Forsström, Christopher B Jackson, Christopher J Carroll, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
Neurology|October 30, 2016
FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disordersJenni M Lehtonen, Saara Forsström, Emanuela Bottani, et al.
Human Molecular Genetics|January 10, 2018
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiencySarah J Brockmann, Axel Freischmidt, Patrick Oeckl, et al.
Acta Neuropathologica Communications|December 17, 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathyNatasha Ranu, Jenni Laitila, Hannah F Dugdale, et al.
American Journal of Human Genetics|May 7, 2016
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral DystrophyMarlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|October 12, 2021
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolismSebastian Kenvin, Ruben Torregrosa-Muñumer, Marco Reidelbach, et al.
Annals of Clinical and Translational Neurology|September 19, 2020
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth diseaseJulius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, et al.
Cell Metabolism|May 11, 2020
Niacin Cures Systemic NAD<sup>+</sup> Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial MyopathyEija Pirinen, Mari Auranen, Nahid A Khan, et al.
Cell Metabolism|September 17, 2019
Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA DeletionsSaara Forsström, Christopher B Jackson, Christopher J Carroll, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
Neurology|October 30, 2016
FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disordersJenni M Lehtonen, Saara Forsström, Emanuela Bottani, et al.
Human Molecular Genetics|January 10, 2018
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiencySarah J Brockmann, Axel Freischmidt, Patrick Oeckl, et al.
Acta Neuropathologica Communications|December 17, 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathyNatasha Ranu, Jenni Laitila, Hannah F Dugdale, et al.
American Journal of Human Genetics|May 7, 2016
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral DystrophyMarlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Pageof 6