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Brett H Graham

Showing results (41-50 of 92) with videos related to

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American Journal of Medical Genetics. Part A|July 11, 2019
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizuresNishitha R Pillai, Noura S AlDhaheri, Rajarshi Ghosh, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletionLuis M Franco, Thomy de Ravel, Brett H Graham, et al.
American Journal of Human Genetics|December 4, 2018
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of GlycosylationBobby G Ng, Jill A Rosenfeld, Lisa Emrick, et al.
The Journal of Cell Biology|March 20, 2013
The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunitKe Zhang, Zhihong Li, Manish Jaiswal, et al.
The Journal of Nutrition|June 4, 2020
Insulinemic Potential of Lifestyle Is Inversely Associated with Leukocyte Mitochondrial DNA Copy Number in US White AdultsKeming Yang, Michele R Forman, Patrick O Monahan, et al.
Molecular Genetics and Metabolism|May 23, 2008
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscleAriel Brautbar, Jing Wang, Jose E Abdenur, et al.
Nature Communications|November 16, 2017
Myokine mediated muscle-kidney crosstalk suppresses metabolic reprogramming and fibrosis in damaged kidneysHui Peng, Qianqian Wang, Tanqi Lou, et al.
Journal of Cachexia, Sarcopenia and Muscle|November 1, 2024
Sucla2 Knock-Out in Skeletal Muscle Yields Mouse Model of Mitochondrial Myopathy With Muscle Type-Specific PhenotypesMakayla S Lancaster, Paul Hafen, Andrew S Law, et al.
Brain Research|December 9, 2017
Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat ModelKerstin K Landrock, Patti Sullivan, Heidi Martini-Stoica, et al.
Cell Metabolism|March 5, 2015
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolismArnaud Besse, Ping Wu, Francesco Bruni, et al.
Pageof 10

Showing results (41-50 of 92) with videos related to

Sort By:
Pageof 10
American Journal of Medical Genetics. Part A|July 11, 2019
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizuresNishitha R Pillai, Noura S AlDhaheri, Rajarshi Ghosh, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletionLuis M Franco, Thomy de Ravel, Brett H Graham, et al.
American Journal of Human Genetics|December 4, 2018
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of GlycosylationBobby G Ng, Jill A Rosenfeld, Lisa Emrick, et al.
The Journal of Cell Biology|March 20, 2013
The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunitKe Zhang, Zhihong Li, Manish Jaiswal, et al.
The Journal of Nutrition|June 4, 2020
Insulinemic Potential of Lifestyle Is Inversely Associated with Leukocyte Mitochondrial DNA Copy Number in US White AdultsKeming Yang, Michele R Forman, Patrick O Monahan, et al.
Molecular Genetics and Metabolism|May 23, 2008
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscleAriel Brautbar, Jing Wang, Jose E Abdenur, et al.
Nature Communications|November 16, 2017
Myokine mediated muscle-kidney crosstalk suppresses metabolic reprogramming and fibrosis in damaged kidneysHui Peng, Qianqian Wang, Tanqi Lou, et al.
Journal of Cachexia, Sarcopenia and Muscle|November 1, 2024
Sucla2 Knock-Out in Skeletal Muscle Yields Mouse Model of Mitochondrial Myopathy With Muscle Type-Specific PhenotypesMakayla S Lancaster, Paul Hafen, Andrew S Law, et al.
Brain Research|December 9, 2017
Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat ModelKerstin K Landrock, Patti Sullivan, Heidi Martini-Stoica, et al.
Cell Metabolism|March 5, 2015
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolismArnaud Besse, Ping Wu, Francesco Bruni, et al.
Pageof 10