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Neuromuscular Disorders : NMD
|
January 10, 2012
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy
Paola Arzuffi, Costanza Lamperti, Erika Fernandez-Vizarra, et al.
Antioxidants & Redox Signaling
|
September 4, 2010
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy
Ivano Di Meo, Gigliola Fagiolari, Alessandro Prelle, et al.
Journal of Child Neurology
|
June 10, 2008
Severe infantile hypotonia with ethylmalonic aciduria: case report
Cetin Okuyaz, Fatih Süheyl Ezgü, Gürsel Biberoglu, et al.
EMBO Molecular Medicine
|
August 21, 2012
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy
Ivano Di Meo, Alberto Auricchio, Costanza Lamperti, et al.
Molecular Genetics and Metabolism
|
January 11, 2005
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes
Liya Wang, Anna Limongelli, Maya R Vila, et al.
Bioscience Reports
|
June 27, 2013
Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications
Tatjana M Hildebrandt, Ivano Di Meo, Massimo Zeviani, et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
|
August 24, 2017
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation
Çiğdem Seher Kasapkara, Leyla Tümer, Nadia Zanetti, et al.
EMBO Molecular Medicine
|
September 8, 2018
Mutations in <i>TIMM50</i> compromise cell survival in OxPhos-dependent metabolic conditions
Aurelio Reyes, Laura Melchionda, Alberto Burlina, et al.
Plos One
|
June 4, 2009
How do human cells react to the absence of mitochondrial DNA?
Rossana Mineri, Norman Pavelka, Erika Fernandez-Vizarra, et al.
Nature Structural & Molecular Biology
|
July 20, 2004
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia
Maria A Graziewicz, Matthew J Longley, Rachelle J Bienstock, et al.
Page
of 29
Search research articles
Search
Showing results (61-70 of 289) with videos related to
Sort By:
Page
of 29
Neuromuscular Disorders : NMD
|
January 10, 2012
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy
Paola Arzuffi, Costanza Lamperti, Erika Fernandez-Vizarra, et al.
Antioxidants & Redox Signaling
|
September 4, 2010
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy
Ivano Di Meo, Gigliola Fagiolari, Alessandro Prelle, et al.
Journal of Child Neurology
|
June 10, 2008
Severe infantile hypotonia with ethylmalonic aciduria: case report
Cetin Okuyaz, Fatih Süheyl Ezgü, Gürsel Biberoglu, et al.
EMBO Molecular Medicine
|
August 21, 2012
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy
Ivano Di Meo, Alberto Auricchio, Costanza Lamperti, et al.
Molecular Genetics and Metabolism
|
January 11, 2005
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes
Liya Wang, Anna Limongelli, Maya R Vila, et al.
Bioscience Reports
|
June 27, 2013
Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications
Tatjana M Hildebrandt, Ivano Di Meo, Massimo Zeviani, et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
|
August 24, 2017
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation
Çiğdem Seher Kasapkara, Leyla Tümer, Nadia Zanetti, et al.
EMBO Molecular Medicine
|
September 8, 2018
Mutations in <i>TIMM50</i> compromise cell survival in OxPhos-dependent metabolic conditions
Aurelio Reyes, Laura Melchionda, Alberto Burlina, et al.
Plos One
|
June 4, 2009
How do human cells react to the absence of mitochondrial DNA?
Rossana Mineri, Norman Pavelka, Erika Fernandez-Vizarra, et al.
Nature Structural & Molecular Biology
|
July 20, 2004
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia
Maria A Graziewicz, Matthew J Longley, Rachelle J Bienstock, et al.
Page
of 29