Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Felix Distelmaier

Showing results (61-70 of 151) with videos related to

Pageof 16
Sort By:
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.
Epilepsia|January 19, 2006
Beta-ureidopropionase deficiency presenting with febrile status epilepticusBirgit E Assmann, Andre B P Van Kuilenburg, Felix Distelmaier, et al.
Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.
Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.
American Journal of Physiology. Cell Physiology|March 21, 2008
Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondriaWerner J H Koopman, Felix Distelmaier, Mark A Hink, et al.
Klinische Padiatrie|August 9, 2020
COVID-19 in a Child with Pre-Existing Immunodeficiency, Cardiomyopathy, and Chronic Pulmonary DiseaseLars Dinkelbach, Julia Franzel, Martin Andree Berghäuser, et al.
Brain : a Journal of Neurology|April 2, 2009
Mitochondrial complex I deficiency: from organelle dysfunction to clinical diseaseFelix Distelmaier, Werner J H Koopman, Lambertus P van den Heuvel, et al.
Annals of Clinical and Translational Neurology|May 30, 2019
Biallelic mutations in <i>PIGP</i> cause developmental and epileptic encephalopathyMartin Krenn, Alexej Knaus, Dominik S Westphal, 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.
Frontiers in Molecular Neuroscience|March 7, 2025
Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5Menekse Oeztuerk, Diran Herebian, Kale Dipali, et al.
Pageof 16

Showing results (61-70 of 151) with videos related to

Sort By:
Pageof 16
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.
Epilepsia|January 19, 2006
Beta-ureidopropionase deficiency presenting with febrile status epilepticusBirgit E Assmann, Andre B P Van Kuilenburg, Felix Distelmaier, et al.
Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.
Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.
American Journal of Physiology. Cell Physiology|March 21, 2008
Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondriaWerner J H Koopman, Felix Distelmaier, Mark A Hink, et al.
Klinische Padiatrie|August 9, 2020
COVID-19 in a Child with Pre-Existing Immunodeficiency, Cardiomyopathy, and Chronic Pulmonary DiseaseLars Dinkelbach, Julia Franzel, Martin Andree Berghäuser, et al.
Brain : a Journal of Neurology|April 2, 2009
Mitochondrial complex I deficiency: from organelle dysfunction to clinical diseaseFelix Distelmaier, Werner J H Koopman, Lambertus P van den Heuvel, et al.
Annals of Clinical and Translational Neurology|May 30, 2019
Biallelic mutations in <i>PIGP</i> cause developmental and epileptic encephalopathyMartin Krenn, Alexej Knaus, Dominik S Westphal, 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.
Frontiers in Molecular Neuroscience|March 7, 2025
Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5Menekse Oeztuerk, Diran Herebian, Kale Dipali, et al.
Pageof 16