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L Alston

Showing results (101-110 of 174) with videos related to

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Journal of Neuropathology and Experimental Neurology|January 22, 2013
Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic studyNichola Z Lax, Sharmilee Gnanapavan, Sarah J Dowson, et al.
European Journal of Human Genetics : EJHG|October 9, 2014
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiencyMonika Oláhová, Tobias B Haack, Charlotte L Alston, et al.
Human Molecular Genetics|August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial diseaseMonika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.
Human Genetics|May 27, 2015
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiencyCharlotte L Alston, Camilla Ceccatelli Berti, Emma L Blakely, et al.
European Journal of Human Genetics : EJHG|December 13, 2022
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelinesEleni Mavraki, Robyn Labrum, Kate Sergeant, et al.
Vaccine|July 6, 2010
Immune response to hepatitis B vaccine in HIV-infected subjects using granulocyte-macrophage colony-stimulating factor (GM-CSF) as a vaccine adjuvant: ACTG study 5220E T Overton, M Kang, M G Peters, et al.
Journal of Medical Genetics|September 14, 2012
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiencyCharlotte L Alston, James E Davison, Francesca Meloni, et al.
Annals of Neurology|February 6, 2015
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial diseaseGráinne S Gorman, Andrew M Schaefer, Yi Ng, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial DiseaseMaria Wesolowska, Grainne S Gorman, Charlotte L Alston, et al.
Annals of Neurology|October 30, 2021
Natural History of Leigh Syndrome: A Study of Disease Burden and ProgressionAlbert Z Lim, Yi Shiau Ng, Alasdair Blain, et al.
Pageof 18

Showing results (101-110 of 174) with videos related to

Sort By:
Pageof 18
Journal of Neuropathology and Experimental Neurology|January 22, 2013
Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic studyNichola Z Lax, Sharmilee Gnanapavan, Sarah J Dowson, et al.
European Journal of Human Genetics : EJHG|October 9, 2014
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiencyMonika Oláhová, Tobias B Haack, Charlotte L Alston, et al.
Human Molecular Genetics|August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial diseaseMonika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.
Human Genetics|May 27, 2015
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiencyCharlotte L Alston, Camilla Ceccatelli Berti, Emma L Blakely, et al.
European Journal of Human Genetics : EJHG|December 13, 2022
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelinesEleni Mavraki, Robyn Labrum, Kate Sergeant, et al.
Vaccine|July 6, 2010
Immune response to hepatitis B vaccine in HIV-infected subjects using granulocyte-macrophage colony-stimulating factor (GM-CSF) as a vaccine adjuvant: ACTG study 5220E T Overton, M Kang, M G Peters, et al.
Journal of Medical Genetics|September 14, 2012
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiencyCharlotte L Alston, James E Davison, Francesca Meloni, et al.
Annals of Neurology|February 6, 2015
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial diseaseGráinne S Gorman, Andrew M Schaefer, Yi Ng, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial DiseaseMaria Wesolowska, Grainne S Gorman, Charlotte L Alston, et al.
Annals of Neurology|October 30, 2021
Natural History of Leigh Syndrome: A Study of Disease Burden and ProgressionAlbert Z Lim, Yi Shiau Ng, Alasdair Blain, et al.
Pageof 18