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Massimo Zeviani

Showing results (271-280 of 289) with videos related to

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American Journal of Human Genetics|August 2, 2007
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson, Valerio Carelli, Liesbeth Spruijt, et al.
Neurology|May 3, 2013
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutationMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Neurology|December 31, 2013
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Annals of Neurology|March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic NeuropathyLeonardo Caporali, Stefania Magri, Andrea Legati, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, 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.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, 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.
Journal of Neurology|November 15, 2015
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Neurology|March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 29

Showing results (271-280 of 289) with videos related to

Sort By:
Pageof 29
American Journal of Human Genetics|August 2, 2007
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson, Valerio Carelli, Liesbeth Spruijt, et al.
Neurology|May 3, 2013
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutationMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Neurology|December 31, 2013
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Annals of Neurology|March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic NeuropathyLeonardo Caporali, Stefania Magri, Andrea Legati, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, 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.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, 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.
Journal of Neurology|November 15, 2015
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Journal of Neurology|March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 29