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Langping He

Showing results (51-60 of 76) with videos related to

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Clinical Genetics|October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenanceEwen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, et al.
Cell Reports|December 20, 2018
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response PathwaysThomas Agnew, Michelle Goldsworthy, Carlos Aguilar, et al.
Plos Genetics|June 6, 2014
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAJohn W Yarham, Tek N Lamichhane, Angela Pyle, et al.
European Journal of Human Genetics : EJHG|August 9, 2023
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54Thomas B Smith, Alessandro Rea, Huw B Thomas, et al.
Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Brain : a Journal of Neurology|September 8, 2010
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesHelen A L Tuppen, Vanessa E Hogan, Langping He, et al.
American Journal of Human Genetics|December 24, 2019
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I DeficiencyCharlotte L Alston, Mike T Veling, Juliana Heidler, et al.
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Annals of Clinical and Translational Neurology|January 13, 2017
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonismLionel Van Maldergem, Arnaud Besse, Boel De Paepe, et al.
Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Pageof 8

Showing results (51-60 of 76) with videos related to

Sort By:
Pageof 8
Clinical Genetics|October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenanceEwen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, et al.
Cell Reports|December 20, 2018
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response PathwaysThomas Agnew, Michelle Goldsworthy, Carlos Aguilar, et al.
Plos Genetics|June 6, 2014
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAJohn W Yarham, Tek N Lamichhane, Angela Pyle, et al.
European Journal of Human Genetics : EJHG|August 9, 2023
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54Thomas B Smith, Alessandro Rea, Huw B Thomas, et al.
Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Brain : a Journal of Neurology|September 8, 2010
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesHelen A L Tuppen, Vanessa E Hogan, Langping He, et al.
American Journal of Human Genetics|December 24, 2019
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I DeficiencyCharlotte L Alston, Mike T Veling, Juliana Heidler, et al.
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Annals of Clinical and Translational Neurology|January 13, 2017
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonismLionel Van Maldergem, Arnaud Besse, Boel De Paepe, et al.
Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Pageof 8