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Jan Smeitink

Showing results (31-40 of 74) with videos related to

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Mitochondrion|November 21, 2016
Radboud Centre for Mitochondrial Medicine Pediatric MRI scoreSheila Suet-Na Wong, Bozena Goraj, Cheuk-Wing Fung, et al.
Mitochondrion|January 25, 2026
Sensitivity of primary mitochondrial disease fibroblasts to ferroptosis: The role of intracellular ironSvetlana Pecheritsyna, Melisa Emel Ermert, Emina Podhumljak, et al.
Clinical Chemistry|April 30, 2002
New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methodsMarkus Schuelke, Anne Detjen, Lambert van den Heuvel, et al.
Annals of Neurology|March 14, 2002
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutationMarkus Schuelke, Heiko Krude, Barbara Finckh, et al.
Orphanet Journal of Rare Diseases|October 18, 2017
KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteersSaskia Koene, Edwin Spaans, Luc Van Bortel, et al.
Molecular Genetics and Metabolism|March 10, 2026
The goal attainment scale in primary mitochondrial disease: Construct validity and lessons learned from a randomized controlled trialKristofoor E Leeuwenberg, Joanna IntHout, Jan T Groothuis, et al.
American Journal of Medical Genetics. Part A|February 16, 2006
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndromeEva Morava, Richard Rodenburg, Frans Hol, et al.
Cell Death & Disease|June 2, 2018
Inhibition of the ER stress IRE1α inflammatory pathway protects against cell death in mitochondrial complex I mutant cellsMeghan S Soustek, Eduardo Balsa, Joeva J Barrow, et al.
Human Molecular Genetics|October 4, 2011
Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activityMaria Antonietta Calvaruso, Peter Willems, Mariël van den Brand, et al.
Orphanet Journal of Rare Diseases|March 19, 2016
Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestationChristianne Verhaak, Paul de Laat, Saskia Koene, et al.
Pageof 8

Showing results (31-40 of 74) with videos related to

Sort By:
Pageof 8
Mitochondrion|November 21, 2016
Radboud Centre for Mitochondrial Medicine Pediatric MRI scoreSheila Suet-Na Wong, Bozena Goraj, Cheuk-Wing Fung, et al.
Mitochondrion|January 25, 2026
Sensitivity of primary mitochondrial disease fibroblasts to ferroptosis: The role of intracellular ironSvetlana Pecheritsyna, Melisa Emel Ermert, Emina Podhumljak, et al.
Clinical Chemistry|April 30, 2002
New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methodsMarkus Schuelke, Anne Detjen, Lambert van den Heuvel, et al.
Annals of Neurology|March 14, 2002
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutationMarkus Schuelke, Heiko Krude, Barbara Finckh, et al.
Orphanet Journal of Rare Diseases|October 18, 2017
KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteersSaskia Koene, Edwin Spaans, Luc Van Bortel, et al.
Molecular Genetics and Metabolism|March 10, 2026
The goal attainment scale in primary mitochondrial disease: Construct validity and lessons learned from a randomized controlled trialKristofoor E Leeuwenberg, Joanna IntHout, Jan T Groothuis, et al.
American Journal of Medical Genetics. Part A|February 16, 2006
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndromeEva Morava, Richard Rodenburg, Frans Hol, et al.
Cell Death & Disease|June 2, 2018
Inhibition of the ER stress IRE1α inflammatory pathway protects against cell death in mitochondrial complex I mutant cellsMeghan S Soustek, Eduardo Balsa, Joeva J Barrow, et al.
Human Molecular Genetics|October 4, 2011
Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activityMaria Antonietta Calvaruso, Peter Willems, Mariël van den Brand, et al.
Orphanet Journal of Rare Diseases|March 19, 2016
Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestationChristianne Verhaak, Paul de Laat, Saskia Koene, et al.
Pageof 8