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L Alston

Showing results (131-140 of 174) with videos related to

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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.
Human Mutation|May 23, 2013
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial diseaseEmma L Blakely, John W Yarham, Charlotte L Alston, et al.
JCI Insight|September 17, 2024
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial diseaseSandrina P Correia, Marco F Moedas, Lucie S Taylor, 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.
Neurology|June 8, 2011
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletionsC Fratter, P Raman, C L Alston, et al.
Kidney International|September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial diseaseAndrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, et al.
JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.
International Journal of Cardiology|June 8, 2013
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial diseaseMatthew G D Bates, Jane H Newman, Djordje G Jakovljevic, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|July 30, 2025
Short Course Therapy With Glecaprevir/Pibrentasvir for Early Hepatitis C Virus Infection: PURGE-CArthur Y Kim, Minhee Kang, Triin Umbleja, et al.
Academic Pathology|June 14, 2023
The next phase in patient safety education: Towards a standardized, tools-based pathology patient safety curriculum: <i>A call to action from the Association of Pathology Chairs</i>' <i>Residency Program Directors Section Training Residents in Patient Safety Workgroup</i>Cynthia K Harris, Yigu Chen, Erin L Alston, et al.
Pageof 18

Showing results (131-140 of 174) with videos related to

Sort By:
Pageof 18
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.
Human Mutation|May 23, 2013
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial diseaseEmma L Blakely, John W Yarham, Charlotte L Alston, et al.
JCI Insight|September 17, 2024
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial diseaseSandrina P Correia, Marco F Moedas, Lucie S Taylor, 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.
Neurology|June 8, 2011
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletionsC Fratter, P Raman, C L Alston, et al.
Kidney International|September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial diseaseAndrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, et al.
JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.
International Journal of Cardiology|June 8, 2013
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial diseaseMatthew G D Bates, Jane H Newman, Djordje G Jakovljevic, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|July 30, 2025
Short Course Therapy With Glecaprevir/Pibrentasvir for Early Hepatitis C Virus Infection: PURGE-CArthur Y Kim, Minhee Kang, Triin Umbleja, et al.
Academic Pathology|June 14, 2023
The next phase in patient safety education: Towards a standardized, tools-based pathology patient safety curriculum: <i>A call to action from the Association of Pathology Chairs</i>' <i>Residency Program Directors Section Training Residents in Patient Safety Workgroup</i>Cynthia K Harris, Yigu Chen, Erin L Alston, et al.
Pageof 18