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Michio Hirano

Showing results (81-90 of 291) with videos related to

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Neurology|January 11, 2013
TK2 mutation presenting as indolent myopathyCarmen Paradas, Purificacion Gutiérrez Ríos, Eloy Rivas, et al.
Muscle & Nerve|October 15, 2011
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutationValentina Emmanuele, David S Silvers, Evangelia Sotiriou, et al.
The Journal of Biological Chemistry|June 16, 2006
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathyGiovanna Pontarin, Paola Ferraro, Maria L Valentino, et al.
American Journal of Human Genetics|January 10, 2006
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyCatarina Quinzii, Ali Naini, Leonardo Salviati, et al.
JAMA Neurology|September 11, 2013
Longitudinal clinical follow-up of a large family with the R357P Twinkle mutationCarmen Paradas, Pilar Camaño, David Otaegui, et al.
Journal of Experimental and Integrative Medicine|November 23, 2013
A novel <i>POLG</i> gene mutation in a patient with SANDOBulent Kurt, Ali B Naini, William C Copeland, et al.
Brain & Development|December 25, 2007
Biochemical and genetic analysis of Leigh syndrome patients in KoreaJong-Hee Chae, Jin Sook Lee, Ki Joong Kim, et al.
Molecular Syndromology|August 16, 2014
Pathomechanisms in coenzyme q10-deficient human fibroblastsLuis C López, Marta Luna-Sánchez, Laura García-Corzo, et al.
JAMA Neurology|February 15, 2013
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature reviewJuliana Gurgel-Giannetti, Guilherme Oliveira, Geraldo Brasileiro Filho, et al.
Archives of Neurology|July 23, 2003
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 geneMichelangelo Mancuso, Massimiliano Filosto, Eduardo Bonilla, et al.
Pageof 30

Showing results (81-90 of 291) with videos related to

Sort By:
Pageof 30
Neurology|January 11, 2013
TK2 mutation presenting as indolent myopathyCarmen Paradas, Purificacion Gutiérrez Ríos, Eloy Rivas, et al.
Muscle & Nerve|October 15, 2011
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutationValentina Emmanuele, David S Silvers, Evangelia Sotiriou, et al.
The Journal of Biological Chemistry|June 16, 2006
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathyGiovanna Pontarin, Paola Ferraro, Maria L Valentino, et al.
American Journal of Human Genetics|January 10, 2006
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyCatarina Quinzii, Ali Naini, Leonardo Salviati, et al.
JAMA Neurology|September 11, 2013
Longitudinal clinical follow-up of a large family with the R357P Twinkle mutationCarmen Paradas, Pilar Camaño, David Otaegui, et al.
Journal of Experimental and Integrative Medicine|November 23, 2013
A novel <i>POLG</i> gene mutation in a patient with SANDOBulent Kurt, Ali B Naini, William C Copeland, et al.
Brain & Development|December 25, 2007
Biochemical and genetic analysis of Leigh syndrome patients in KoreaJong-Hee Chae, Jin Sook Lee, Ki Joong Kim, et al.
Molecular Syndromology|August 16, 2014
Pathomechanisms in coenzyme q10-deficient human fibroblastsLuis C López, Marta Luna-Sánchez, Laura García-Corzo, et al.
JAMA Neurology|February 15, 2013
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature reviewJuliana Gurgel-Giannetti, Guilherme Oliveira, Geraldo Brasileiro Filho, et al.
Archives of Neurology|July 23, 2003
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 geneMichelangelo Mancuso, Massimiliano Filosto, Eduardo Bonilla, et al.
Pageof 30