Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

John W Yarham

Showing results (1-10 of 15) with videos related to

Pageof 2
Sort By:
Mitochondrion|July 12, 2012
A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutationsJohn W Yarham, Robert McFarland, Robert W Taylor, et al.
Wiley Interdisciplinary Reviews. RNA|September 22, 2011
Mitochondrial tRNA mutations and diseaseJohn W Yarham, Joanna L Elson, Emma L Blakely, et al.
Human Mutation|September 2, 2011
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutationsJohn W Yarham, Mazhor Al-Dosary, Emma L Blakely, et al.
Journal of the Neurological Sciences|January 1, 2013
The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial diseaseJohn W Yarham, Emma L Blakely, Charlotte L Alston, et al.
Journal of Hematology & Oncology|April 4, 2013
Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defectsMazin A Zamzami, John A Duley, Gareth R Price, et al.
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|March 2, 2012
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsyHelen A L Tuppen, Karin Naess, Nancy G Kennaway, et al.
Human Mutation|May 15, 2012
Toward a mtDNA locus-specific mutation database using the LOVD platformJoanna L Elson, Mary G Sweeney, Vincent Procaccio, 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.
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.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Mitochondrion|July 12, 2012
A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutationsJohn W Yarham, Robert McFarland, Robert W Taylor, et al.
Wiley Interdisciplinary Reviews. RNA|September 22, 2011
Mitochondrial tRNA mutations and diseaseJohn W Yarham, Joanna L Elson, Emma L Blakely, et al.
Human Mutation|September 2, 2011
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutationsJohn W Yarham, Mazhor Al-Dosary, Emma L Blakely, et al.
Journal of the Neurological Sciences|January 1, 2013
The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial diseaseJohn W Yarham, Emma L Blakely, Charlotte L Alston, et al.
Journal of Hematology & Oncology|April 4, 2013
Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defectsMazin A Zamzami, John A Duley, Gareth R Price, et al.
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|March 2, 2012
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsyHelen A L Tuppen, Karin Naess, Nancy G Kennaway, et al.
Human Mutation|May 15, 2012
Toward a mtDNA locus-specific mutation database using the LOVD platformJoanna L Elson, Mary G Sweeney, Vincent Procaccio, 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.
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.
Pageof 2