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Showing results (21-30 of 76) with videos related to

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Molecular Genetics and Metabolism|July 31, 2023
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial diseaseWenqian Chen, Preeya Rehsi, Kyle Thompson, et al.
Investigative Ophthalmology & Visual Science|February 19, 2010
Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular musclesPatrick Yu-Wai-Man, Joey Lai-Cheong, Gillian M Borthwick, et al.
Scientific Reports|November 17, 2017
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiencySyeda T Ahmed, Charlotte L Alston, Sila Hopton, et al.
Molecular Genetics and Metabolism|May 18, 2010
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutationHelen A L Tuppen, Janev Fehmi, Birgit Czermin, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?Helen Swalwell, Emma L Blakely, Ruth Sutton, et al.
Human Pathology|January 22, 2013
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular featuresCarla Giordano, Elena Perli, Maurizia Orlandi, et al.
Human Molecular Genetics|August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial diseaseMonika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.
Journal of Neuropathology and Experimental Neurology|January 22, 2013
Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic studyNichola Z Lax, Sharmilee Gnanapavan, Sarah J Dowson, et al.
European Journal of Human Genetics : EJHG|October 9, 2014
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiencyMonika Oláhová, Tobias B Haack, Charlotte L Alston, et al.
Biochimica Et Biophysica Acta|October 29, 2013
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiencyAbdulraheem Almalki, Charlotte L Alston, Alasdair Parker, et al.
Pageof 8

Showing results (21-30 of 76) with videos related to

Sort By:
Pageof 8
Molecular Genetics and Metabolism|July 31, 2023
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial diseaseWenqian Chen, Preeya Rehsi, Kyle Thompson, et al.
Investigative Ophthalmology & Visual Science|February 19, 2010
Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular musclesPatrick Yu-Wai-Man, Joey Lai-Cheong, Gillian M Borthwick, et al.
Scientific Reports|November 17, 2017
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiencySyeda T Ahmed, Charlotte L Alston, Sila Hopton, et al.
Molecular Genetics and Metabolism|May 18, 2010
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutationHelen A L Tuppen, Janev Fehmi, Birgit Czermin, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?Helen Swalwell, Emma L Blakely, Ruth Sutton, et al.
Human Pathology|January 22, 2013
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular featuresCarla Giordano, Elena Perli, Maurizia Orlandi, et al.
Human Molecular Genetics|August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial diseaseMonika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.
Journal of Neuropathology and Experimental Neurology|January 22, 2013
Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic studyNichola Z Lax, Sharmilee Gnanapavan, Sarah J Dowson, et al.
European Journal of Human Genetics : EJHG|October 9, 2014
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiencyMonika Oláhová, Tobias B Haack, Charlotte L Alston, et al.
Biochimica Et Biophysica Acta|October 29, 2013
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiencyAbdulraheem Almalki, Charlotte L Alston, Alasdair Parker, et al.
Pageof 8