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L Alston

Showing results (121-130 of 174) with videos related to

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EMBO Molecular Medicine|May 9, 2018
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial diseaseJohn P Grady, Sarah J Pickett, Yi Shiau Ng, 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.
Neuromuscular Disorders : NMD|March 29, 2025
Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of ScotlandTaylor Watson-Fargie, Autumn Coomber, Rachel Edwards, et al.
Neurogenetics|October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunitsRuth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
EMBO Molecular Medicine|September 24, 2020
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex IAhmad Alahmad, Alessia Nasca, Juliana Heidler, et al.
JAMA|December 1, 2024
HepB-CpG vs HepB-Alum Vaccine in People With HIV and Prior Vaccine Nonresponse: The BEe-HIVe Randomized Clinical TrialKristen M Marks, Minhee Kang, Triin Umbleja, et al.
European Heart Journal|July 19, 2015
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsYi Shiau Ng, John P Grady, Nichola Z Lax, et al.
Mitochondrion|December 22, 2015
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosisXènia Ferrer-Cortès, Juan Narbona, Núria Bujan, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyPatricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.
Human Molecular Genetics|January 8, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIan J Wilson, Phillipa J Carling, Charlotte L Alston, et al.
Pageof 18

Showing results (121-130 of 174) with videos related to

Sort By:
Pageof 18
EMBO Molecular Medicine|May 9, 2018
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial diseaseJohn P Grady, Sarah J Pickett, Yi Shiau Ng, 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.
Neuromuscular Disorders : NMD|March 29, 2025
Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of ScotlandTaylor Watson-Fargie, Autumn Coomber, Rachel Edwards, et al.
Neurogenetics|October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunitsRuth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
EMBO Molecular Medicine|September 24, 2020
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex IAhmad Alahmad, Alessia Nasca, Juliana Heidler, et al.
JAMA|December 1, 2024
HepB-CpG vs HepB-Alum Vaccine in People With HIV and Prior Vaccine Nonresponse: The BEe-HIVe Randomized Clinical TrialKristen M Marks, Minhee Kang, Triin Umbleja, et al.
European Heart Journal|July 19, 2015
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsYi Shiau Ng, John P Grady, Nichola Z Lax, et al.
Mitochondrion|December 22, 2015
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosisXènia Ferrer-Cortès, Juan Narbona, Núria Bujan, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyPatricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.
Human Molecular Genetics|January 8, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIan J Wilson, Phillipa J Carling, Charlotte L Alston, et al.
Pageof 18