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Fabian Baertling

Showing results (11-20 of 24) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|June 18, 2013
A guide to diagnosis and treatment of Leigh syndromeFabian Baertling, Richard J Rodenburg, Jörg Schaper, et al.
Brain Research|February 24, 2010
ADAM12 is expressed by astrocytes during experimental demyelinationFabian Baertling, Maria Kokozidou, Thomas Pufe, et al.
Molecular Genetics and Metabolism|December 18, 2016
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndromeFabian Baertling, Laura Sánchez-Caballero, Sharita Timal, et al.
Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.
Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Human Mutation|March 2, 2017
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thriveFabian Baertling, Fathiya Al-Murshedi, Laura Sánchez-Caballero, et al.
Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
The Journal of Pediatrics|February 4, 2018
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 VariantFabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, et al.
European Journal of Human Genetics : EJHG|August 31, 2017
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defectFabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, et al.
Stem Cell Research & Therapy|June 26, 2017
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cellsMarlen Melcher, Katharina Danhauser, Annette Seibt, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Journal of Neurology, Neurosurgery, and Psychiatry|June 18, 2013
A guide to diagnosis and treatment of Leigh syndromeFabian Baertling, Richard J Rodenburg, Jörg Schaper, et al.
Brain Research|February 24, 2010
ADAM12 is expressed by astrocytes during experimental demyelinationFabian Baertling, Maria Kokozidou, Thomas Pufe, et al.
Molecular Genetics and Metabolism|December 18, 2016
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndromeFabian Baertling, Laura Sánchez-Caballero, Sharita Timal, et al.
Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.
Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Human Mutation|March 2, 2017
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thriveFabian Baertling, Fathiya Al-Murshedi, Laura Sánchez-Caballero, et al.
Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
The Journal of Pediatrics|February 4, 2018
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 VariantFabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, et al.
European Journal of Human Genetics : EJHG|August 31, 2017
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defectFabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, et al.
Stem Cell Research & Therapy|June 26, 2017
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cellsMarlen Melcher, Katharina Danhauser, Annette Seibt, et al.
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