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Thomas Meitinger

Showing results (281-290 of 508) with videos related to

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Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.
Annals of Neurology|December 26, 2009
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease geneMatthias Elstner, Christopher M Morris, Katharina Heim, et al.
Clinical Epigenetics|January 8, 2021
DNA methylation and lipid metabolism: an EWAS of 226 metabolic measuresMonica Del C Gomez-Alonso, Anja Kretschmer, Rory Wilson, et al.
American Journal of Human Genetics|July 19, 2011
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseAlexander Zimprich, Anna Benet-Pagès, Walter Struhal, et al.
American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Clinical Genetics|February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care centerTheresa Brunet, Robert Jech, Melanie Brugger, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Pageof 51

Showing results (281-290 of 508) with videos related to

Sort By:
Pageof 51
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.
Annals of Neurology|December 26, 2009
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease geneMatthias Elstner, Christopher M Morris, Katharina Heim, et al.
Clinical Epigenetics|January 8, 2021
DNA methylation and lipid metabolism: an EWAS of 226 metabolic measuresMonica Del C Gomez-Alonso, Anja Kretschmer, Rory Wilson, et al.
American Journal of Human Genetics|July 19, 2011
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseAlexander Zimprich, Anna Benet-Pagès, Walter Struhal, et al.
American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Clinical Genetics|February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care centerTheresa Brunet, Robert Jech, Melanie Brugger, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Pageof 51