Search research articles
Contact Us
Filters
Showing results (131-140 of 166) with videos related to
Page
of 17
Sort By:
Human Molecular Genetics
|
May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
Sumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Human Mutation
|
November 10, 2020
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Liesbeth T M Wintjes, Maina Kava, Frans A van den Brandt, et al.
The Journal of Biological Chemistry
|
April 27, 2012
Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene
Dillon W Leong, Jasper C Komen, Chelsee A Hewitt, et al.
Molecular Genetics and Metabolism
|
May 31, 2024
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
Isaac Bernhardt, Leah E Frajman, Bryony Ryder, et al.
American Journal of Human Genetics
|
August 6, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia
Pauline Gaignard, Minal Menezes, Manuel Schiff, et al.
Journal of Medical Genetics
|
April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
Charlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Human Genetics
|
May 14, 2020
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
Elena J Tucker, Rocio Rius, Sylvie Jaillard, et al.
Plos Genetics
|
January 4, 2014
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression
Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, et al.
Journal of Medical Genetics
|
January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisis
Sumit Parikh, Amel Karaa, Amy Goldstein, et al.
American Journal of Human Genetics
|
March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
Natalie B Tan, Matthias Gautschi, Michael Raum, et al.
Page
of 17
Search research articles
Search
Showing results (131-140 of 166) with videos related to
Sort By:
Page
of 17
Human Molecular Genetics
|
May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
Sumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Human Mutation
|
November 10, 2020
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Liesbeth T M Wintjes, Maina Kava, Frans A van den Brandt, et al.
The Journal of Biological Chemistry
|
April 27, 2012
Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene
Dillon W Leong, Jasper C Komen, Chelsee A Hewitt, et al.
Molecular Genetics and Metabolism
|
May 31, 2024
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
Isaac Bernhardt, Leah E Frajman, Bryony Ryder, et al.
American Journal of Human Genetics
|
August 6, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia
Pauline Gaignard, Minal Menezes, Manuel Schiff, et al.
Journal of Medical Genetics
|
April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
Charlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Human Genetics
|
May 14, 2020
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
Elena J Tucker, Rocio Rius, Sylvie Jaillard, et al.
Plos Genetics
|
January 4, 2014
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression
Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, et al.
Journal of Medical Genetics
|
January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisis
Sumit Parikh, Amel Karaa, Amy Goldstein, et al.
American Journal of Human Genetics
|
March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
Natalie B Tan, Matthias Gautschi, Michael Raum, et al.
Page
of 17