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Richard Rodenburg

Showing results (1-10 of 33) with videos related to

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Journal of Inherited Metabolic Disease|June 21, 2006
Dietary intervention and oxidative phosphorylation capacityEva Morava, Richard Rodenburg, Heidi Zweers van Essen, et al.
Pediatric Neurology|February 18, 2010
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathyKairit Joost, Richard Rodenburg, Andres Piirsoo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 13, 2007
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutationGretha van de Glind, Maaike de Vries, Richard Rodenburg, 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.
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.
Mitochondrion|June 14, 2011
Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndromeBart Smits, Lambert van den Heuvel, Hans Knoop, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|October 12, 2025
Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondriaZeinab Alsadat Ahmadi, Alfredo Cabrera-Orefice, Marta Zaninello, et al.
Frontiers in Neurology|May 14, 2021
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case ReportAziza Miriam Belkheir, Janine Reunert, Christiane Elpers, et al.
Iscience|January 13, 2025
Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patientsIrena J J Muffels, Richard Rodenburg, Hanneke L D Willemen, et al.
Genes|September 5, 2020
Identification of a Novel Variant in <i>EARS2</i> Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBLSofia Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida, et al.
Pageof 4

Showing results (1-10 of 33) with videos related to

Sort By:
Pageof 4
Journal of Inherited Metabolic Disease|June 21, 2006
Dietary intervention and oxidative phosphorylation capacityEva Morava, Richard Rodenburg, Heidi Zweers van Essen, et al.
Pediatric Neurology|February 18, 2010
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathyKairit Joost, Richard Rodenburg, Andres Piirsoo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 13, 2007
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutationGretha van de Glind, Maaike de Vries, Richard Rodenburg, 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.
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.
Mitochondrion|June 14, 2011
Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndromeBart Smits, Lambert van den Heuvel, Hans Knoop, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|October 12, 2025
Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondriaZeinab Alsadat Ahmadi, Alfredo Cabrera-Orefice, Marta Zaninello, et al.
Frontiers in Neurology|May 14, 2021
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case ReportAziza Miriam Belkheir, Janine Reunert, Christiane Elpers, et al.
Iscience|January 13, 2025
Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patientsIrena J J Muffels, Richard Rodenburg, Hanneke L D Willemen, et al.
Genes|September 5, 2020
Identification of a Novel Variant in <i>EARS2</i> Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBLSofia Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida, et al.
Pageof 4