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Patrick F Chinnery

Showing results (351-360 of 473) with videos related to

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American Journal of Human Genetics|December 29, 2005
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderGavin Hudson, Sharon Keers, Patrick Yu-Wai-Man, et al.
JAMA Neurology|November 25, 2014
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28Gráinne S Gorman, Gerald Pfeffer, Helen Griffin, et al.
Journal of Neurology|September 4, 2014
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiencyAndrea Balreira, Veronika Boczonadi, Emanuele Barca, et al.
American Journal of Human Genetics|May 3, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 1, 2011
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3Rita Horvath, Birgit Czermin, Sweena Gulati, et al.
American Journal of Human Genetics|July 9, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.
Nature Cell Biology|December 15, 2022
Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryosVasileios I Floros, Angela Pyle, Sabine Dietmann, et al.
Nature Reviews. Neurology|July 3, 2013
New treatments for mitochondrial disease-no time to drop our standardsGerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Nature Cell Biology|January 17, 2018
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryosVasileios I Floros, Angela Pyle, Sabine Dietmann, et al.
Nature Cell Biology|April 21, 2018
Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryosVasileios I Floros, Angela Pyle, Sabine Dietmann, et al.
Pageof 48

Showing results (351-360 of 473) with videos related to

Sort By:
Pageof 48
American Journal of Human Genetics|December 29, 2005
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderGavin Hudson, Sharon Keers, Patrick Yu-Wai-Man, et al.
JAMA Neurology|November 25, 2014
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28Gráinne S Gorman, Gerald Pfeffer, Helen Griffin, et al.
Journal of Neurology|September 4, 2014
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiencyAndrea Balreira, Veronika Boczonadi, Emanuele Barca, et al.
American Journal of Human Genetics|May 3, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 1, 2011
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3Rita Horvath, Birgit Czermin, Sweena Gulati, et al.
American Journal of Human Genetics|July 9, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.
Nature Cell Biology|December 15, 2022
Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryosVasileios I Floros, Angela Pyle, Sabine Dietmann, et al.
Nature Reviews. Neurology|July 3, 2013
New treatments for mitochondrial disease-no time to drop our standardsGerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Nature Cell Biology|January 17, 2018
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryosVasileios I Floros, Angela Pyle, Sabine Dietmann, et al.
Nature Cell Biology|April 21, 2018
Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryosVasileios I Floros, Angela Pyle, Sabine Dietmann, et al.
Pageof 48