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Felix Distelmaier

Showing results (91-100 of 151) with videos related to

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Biochimica Et Biophysica Acta|November 1, 2011
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndromeLock Hock Ngu, Leo G Nijtmans, Felix Distelmaier, et al.
Human Molecular Genetics|June 16, 2009
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorderRolf J R J Janssen, Felix Distelmaier, Roel Smeets, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
Biochimica Et Biophysica Acta|December 24, 2014
Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-αFelix Distelmaier, Federica Valsecchi, Dania C Liemburg-Apers, et al.
Brain : a Journal of Neurology|December 20, 2019
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegenerationChristina R Fagerberg, Adrian Taylor, Felix Distelmaier, et al.
Journal of Inherited Metabolic Disease|July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.
Free Radical Biology & Medicine|June 19, 2022
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblastsElianne P Bulthuis, Claudia Einer, Felix Distelmaier, et al.
American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
Pageof 16

Showing results (91-100 of 151) with videos related to

Sort By:
Pageof 16
Biochimica Et Biophysica Acta|November 1, 2011
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndromeLock Hock Ngu, Leo G Nijtmans, Felix Distelmaier, et al.
Human Molecular Genetics|June 16, 2009
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorderRolf J R J Janssen, Felix Distelmaier, Roel Smeets, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
Biochimica Et Biophysica Acta|December 24, 2014
Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-αFelix Distelmaier, Federica Valsecchi, Dania C Liemburg-Apers, et al.
Brain : a Journal of Neurology|December 20, 2019
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegenerationChristina R Fagerberg, Adrian Taylor, Felix Distelmaier, et al.
Journal of Inherited Metabolic Disease|July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.
Free Radical Biology & Medicine|June 19, 2022
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblastsElianne P Bulthuis, Claudia Einer, Felix Distelmaier, et al.
American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
Pageof 16