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Michio Hirano

Showing results (71-80 of 291) with videos related to

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Neurology. Genetics|March 31, 2018
Diagnostic odyssey of patients with mitochondrial disease: Results of a surveyJohnston Grier, Michio Hirano, Amel Karaa, et al.
Experimental Cell Research|March 7, 2009
Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanismsJoan Villarroya, Carme de Bolós, Anna Meseguer, et al.
Archives of Neurology|September 12, 2012
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathyDaniel B Ash, Dimitra Papadimitriou, Arthur P Hays, et al.
Journal of Neurology|November 29, 2019
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6Andres Berardo, Valentina Emmanuele, Wendy Vargas, et al.
Clinical Neurology and Neurosurgery|June 5, 2007
A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Jutatip Kintarak, Teerin Liewluck, Tumtip Sangruchi, et al.
Gene|June 25, 2005
Thymidine phosphorylase mutations cause instability of mitochondrial DNAMichio Hirano, Clotilde Lagier-Tourenne, Maria L Valentino, et al.
Clinical Chemistry|November 25, 2003
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assaysRamon Martí, Antonella Spinazzola, Saba Tadesse, et al.
Muscle & Nerve|February 16, 2012
POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian familyJuliana Gurgel-Giannetti, Sarah Teixeira Camargos, Francisco Cardoso, et al.
Medrxiv : the Preprint Server for Health Sciences|February 14, 2024
Perceived association of mood and symptom severity in adults with mitochondrial diseasesCatherine Kelly, Alex Junker, Kris Englestad, et al.
Neuromuscular Disorders : NMD|March 17, 2009
The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegiaEvangelia Sotiriou, Jorida Coku, Kurenai Tanji, et al.
Pageof 30

Showing results (71-80 of 291) with videos related to

Sort By:
Pageof 30
Neurology. Genetics|March 31, 2018
Diagnostic odyssey of patients with mitochondrial disease: Results of a surveyJohnston Grier, Michio Hirano, Amel Karaa, et al.
Experimental Cell Research|March 7, 2009
Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanismsJoan Villarroya, Carme de Bolós, Anna Meseguer, et al.
Archives of Neurology|September 12, 2012
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathyDaniel B Ash, Dimitra Papadimitriou, Arthur P Hays, et al.
Journal of Neurology|November 29, 2019
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6Andres Berardo, Valentina Emmanuele, Wendy Vargas, et al.
Clinical Neurology and Neurosurgery|June 5, 2007
A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Jutatip Kintarak, Teerin Liewluck, Tumtip Sangruchi, et al.
Gene|June 25, 2005
Thymidine phosphorylase mutations cause instability of mitochondrial DNAMichio Hirano, Clotilde Lagier-Tourenne, Maria L Valentino, et al.
Clinical Chemistry|November 25, 2003
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assaysRamon Martí, Antonella Spinazzola, Saba Tadesse, et al.
Muscle & Nerve|February 16, 2012
POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian familyJuliana Gurgel-Giannetti, Sarah Teixeira Camargos, Francisco Cardoso, et al.
Medrxiv : the Preprint Server for Health Sciences|February 14, 2024
Perceived association of mood and symptom severity in adults with mitochondrial diseasesCatherine Kelly, Alex Junker, Kris Englestad, et al.
Neuromuscular Disorders : NMD|March 17, 2009
The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegiaEvangelia Sotiriou, Jorida Coku, Kurenai Tanji, et al.
Pageof 30