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Cell Metabolism
|
January 10, 2006
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders
Jan A Smeitink, Massimo Zeviani, Douglass M Turnbull, et al.
Journal of Medical Genetics
|
October 24, 2006
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, et al.
Antiviral Therapy
|
October 13, 2005
Zidovudine administration during pregnancy and mitochondrial disease in the offspring
Pier-Angelo Tovo, Nadia Chiapello, Clara Gabiano, et al.
Mitochondrion
|
December 21, 2010
Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome
Georg M Stettner, Carlo Viscomi, Massimo Zeviani, et al.
BMJ Case Reports
|
June 21, 2011
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, et al.
Human Molecular Genetics
|
August 31, 2006
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
Enrico Baruffini, Tiziana Lodi, Cristina Dallabona, et al.
AJNR. American Journal of Neuroradiology
|
August 10, 2002
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations
Laura Farina, Luisa Chiapparini, Graziella Uziel, et al.
Neuromuscular Disorders : NMD
|
May 27, 2008
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism
Federica Invernizzi, Sara Varanese, Astrid Thomas, et al.
Neuromuscular Disorders : NMD
|
December 4, 2001
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III
Eleonora Lamantea, Franco Carrara, Caterina Mariotti, et al.
Molecular Therapy. Methods & Clinical Development
|
June 2, 2020
A Single Intravenous Injection of AAV-PHP.B-<i>hNDUFS4</i> Ameliorates the Phenotype of <i>Ndufs4</i> <sup></sup> Mice
Pedro Silva-Pinheiro, Raffaele Cerutti, Marta Luna-Sanchez, et al.
Page
of 29
Search research articles
Search
Showing results (51-60 of 289) with videos related to
Sort By:
Page
of 29
Cell Metabolism
|
January 10, 2006
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders
Jan A Smeitink, Massimo Zeviani, Douglass M Turnbull, et al.
Journal of Medical Genetics
|
October 24, 2006
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, et al.
Antiviral Therapy
|
October 13, 2005
Zidovudine administration during pregnancy and mitochondrial disease in the offspring
Pier-Angelo Tovo, Nadia Chiapello, Clara Gabiano, et al.
Mitochondrion
|
December 21, 2010
Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome
Georg M Stettner, Carlo Viscomi, Massimo Zeviani, et al.
BMJ Case Reports
|
June 21, 2011
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, et al.
Human Molecular Genetics
|
August 31, 2006
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
Enrico Baruffini, Tiziana Lodi, Cristina Dallabona, et al.
AJNR. American Journal of Neuroradiology
|
August 10, 2002
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations
Laura Farina, Luisa Chiapparini, Graziella Uziel, et al.
Neuromuscular Disorders : NMD
|
May 27, 2008
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism
Federica Invernizzi, Sara Varanese, Astrid Thomas, et al.
Neuromuscular Disorders : NMD
|
December 4, 2001
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III
Eleonora Lamantea, Franco Carrara, Caterina Mariotti, et al.
Molecular Therapy. Methods & Clinical Development
|
June 2, 2020
A Single Intravenous Injection of AAV-PHP.B-<i>hNDUFS4</i> Ameliorates the Phenotype of <i>Ndufs4</i> <sup></sup> Mice
Pedro Silva-Pinheiro, Raffaele Cerutti, Marta Luna-Sanchez, et al.
Page
of 29