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Journal of Medical Genetics
|
September 30, 2016
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, et al.
Cell Metabolism
|
August 21, 2018
Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy
Sukru Anil Dogan, Raffaele Cerutti, Cristiane Benincá, et al.
Ebiomedicine
|
February 24, 2017
Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency
Paule Bénit, Alice Pelhaître, Elise Saunier, et al.
Cell Metabolism
|
June 4, 2015
Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models
Gabriele Civiletto, Tatiana Varanita, Raffaele Cerutti, et al.
Brain : a Journal of Neurology
|
February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
Gianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.
Plos Genetics
|
January 4, 2019
RNase H1 directs origin-specific initiation of DNA replication in human mitochondria
Viktor Posse, Ali Al-Behadili, Jay P Uhler, et al.
Mitochondrion
|
October 2, 2010
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model
Enrico Baruffini, Rita Horvath, Cristina Dallabona, et al.
Human Molecular Genetics
|
January 11, 2007
Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice
Carlotta Dell'agnello, Sara Leo, Alessandro Agostino, et al.
American Journal of Human Genetics
|
April 6, 2010
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
Daniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, et al.
JIMD Reports
|
February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
Anna Ardissone, Eleonora Lamantea, Jade Quartararo, et al.
Page
of 29
Search research articles
Search
Showing results (111-120 of 289) with videos related to
Sort By:
Page
of 29
Journal of Medical Genetics
|
September 30, 2016
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, et al.
Cell Metabolism
|
August 21, 2018
Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy
Sukru Anil Dogan, Raffaele Cerutti, Cristiane Benincá, et al.
Ebiomedicine
|
February 24, 2017
Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency
Paule Bénit, Alice Pelhaître, Elise Saunier, et al.
Cell Metabolism
|
June 4, 2015
Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models
Gabriele Civiletto, Tatiana Varanita, Raffaele Cerutti, et al.
Brain : a Journal of Neurology
|
February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
Gianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.
Plos Genetics
|
January 4, 2019
RNase H1 directs origin-specific initiation of DNA replication in human mitochondria
Viktor Posse, Ali Al-Behadili, Jay P Uhler, et al.
Mitochondrion
|
October 2, 2010
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model
Enrico Baruffini, Rita Horvath, Cristina Dallabona, et al.
Human Molecular Genetics
|
January 11, 2007
Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice
Carlotta Dell'agnello, Sara Leo, Alessandro Agostino, et al.
American Journal of Human Genetics
|
April 6, 2010
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
Daniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, et al.
JIMD Reports
|
February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
Anna Ardissone, Eleonora Lamantea, Jade Quartararo, et al.
Page
of 29