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European Journal of Human Genetics : EJHG
|
October 8, 2009
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects
Paulien Smits, Sandy Mattijssen, Eva Morava, et al.
JIMD Reports
|
June 27, 2019
A fatal case of <i>COQ7</i>-associated primary coenzyme Q<sub>10</sub> deficiency
Anna K-Y Kwong, Annie T-G Chiu, Mandy H-Y Tsang, et al.
Annals of Neurology
|
July 12, 2002
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
Knut Brockmann, Alf Bjornstad, Peter Dechent, et al.
Journal of Inherited Metabolic Disease
|
July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
Saskia Koene, Lara van Bon, Enrico Bertini, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2008
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency
Despina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk ter Laak, et al.
Analytical Biochemistry
|
May 21, 2009
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome
Riekelt H Houtkooper, Richard J Rodenburg, Charlotte Thiels, et al.
Molecular Cell
|
September 27, 2016
Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations
Joeva J Barrow, Eduardo Balsa, Francisco Verdeguer, et al.
Stem Cell Reports
|
July 30, 2021
Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons
Teun M Klein Gunnewiek, Anouk H A Verboven, Iris Pelgrim, et al.
Annals of Neurology
|
August 19, 2007
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
Marcel M Verbeek, Gerry C H Steenbergen-Spanjers, Michèl A A P Willemsen, et al.
Cell Metabolism
|
September 7, 2010
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I
Jessica Nouws, Leo Nijtmans, Sander M Houten, et al.
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of 8
Search research articles
Search
Showing results (51-60 of 74) with videos related to
Sort By:
Page
of 8
European Journal of Human Genetics : EJHG
|
October 8, 2009
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects
Paulien Smits, Sandy Mattijssen, Eva Morava, et al.
JIMD Reports
|
June 27, 2019
A fatal case of <i>COQ7</i>-associated primary coenzyme Q<sub>10</sub> deficiency
Anna K-Y Kwong, Annie T-G Chiu, Mandy H-Y Tsang, et al.
Annals of Neurology
|
July 12, 2002
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
Knut Brockmann, Alf Bjornstad, Peter Dechent, et al.
Journal of Inherited Metabolic Disease
|
July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
Saskia Koene, Lara van Bon, Enrico Bertini, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2008
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency
Despina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk ter Laak, et al.
Analytical Biochemistry
|
May 21, 2009
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome
Riekelt H Houtkooper, Richard J Rodenburg, Charlotte Thiels, et al.
Molecular Cell
|
September 27, 2016
Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations
Joeva J Barrow, Eduardo Balsa, Francisco Verdeguer, et al.
Stem Cell Reports
|
July 30, 2021
Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons
Teun M Klein Gunnewiek, Anouk H A Verboven, Iris Pelgrim, et al.
Annals of Neurology
|
August 19, 2007
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
Marcel M Verbeek, Gerry C H Steenbergen-Spanjers, Michèl A A P Willemsen, et al.
Cell Metabolism
|
September 7, 2010
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I
Jessica Nouws, Leo Nijtmans, Sander M Houten, et al.
Page
of 8