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Jan Smeitink

Showing results (61-70 of 74) with videos related to

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Human Molecular Genetics|December 25, 2007
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytomaGiuseppe Gasparre, Eric Hervouet, Elodie de Laplanche, et al.
Nature Reviews. Neurology|July 3, 2013
New treatments for mitochondrial disease-no time to drop our standardsGerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Brain : a Journal of Neurology|November 6, 2024
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutationJan Smeitink, Just van Es, Brigitte Bosman, et al.
Molecular Biology of the Cell|December 2, 2010
NOA1 is an essential GTPase required for mitochondrial protein synthesisMateusz Kolanczyk, Markus Pech, Tomasz Zemojtel, 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.
The Lancet. Neurology|August 9, 2011
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic studyAnu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, et al.
Science (New York, N.Y.)|September 18, 2010
IDH2 mutations in patients with D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, Emile van Schaftingen, et al.
Orphanet Journal of Rare Diseases|January 15, 2021
Exome sequencing in paediatric patients with movement disordersAnna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, et al.
Brain : a Journal of Neurology|December 20, 2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Vivienne C M Neeve, David C Samuels, Laurence A Bindoff, et al.
Pageof 8

Showing results (61-70 of 74) with videos related to

Sort By:
Pageof 8
Human Molecular Genetics|December 25, 2007
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytomaGiuseppe Gasparre, Eric Hervouet, Elodie de Laplanche, et al.
Nature Reviews. Neurology|July 3, 2013
New treatments for mitochondrial disease-no time to drop our standardsGerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Brain : a Journal of Neurology|November 6, 2024
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutationJan Smeitink, Just van Es, Brigitte Bosman, et al.
Molecular Biology of the Cell|December 2, 2010
NOA1 is an essential GTPase required for mitochondrial protein synthesisMateusz Kolanczyk, Markus Pech, Tomasz Zemojtel, 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.
The Lancet. Neurology|August 9, 2011
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic studyAnu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, et al.
Science (New York, N.Y.)|September 18, 2010
IDH2 mutations in patients with D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, Emile van Schaftingen, et al.
Orphanet Journal of Rare Diseases|January 15, 2021
Exome sequencing in paediatric patients with movement disordersAnna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, et al.
Brain : a Journal of Neurology|December 20, 2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Vivienne C M Neeve, David C Samuels, Laurence A Bindoff, et al.
Pageof 8