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

Angela Pyle

Showing results (91-100 of 119) with videos related to

Pageof 12
Sort By:
American Journal of Medical Genetics. Part A|October 14, 2024
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic ExpansionHebatallah M Hassaan, Angela Pyle, Nihal Almenabawy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseVeronika Boczonadi, Martin S King, Anthony C Smith, et al.
Journal of Neuromuscular Diseases|September 18, 2015
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the <i>C12orf65</i> GeneAngela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, et al.
Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
American Journal of Human Genetics|September 6, 2014
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathyDavid N Herrmann, Rita Horvath, Janet E Sowden, 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.
Stem Cells (Dayton, Ohio)|November 29, 2019
Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryosLaila Noli, Shirin E Khorsandi, Angela Pyle, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2012
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathyRita Horvath, Elke Holinski-Feder, Vivienne C M Neeve, et al.
Brain : a Journal of Neurology|December 21, 2010
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyJohn P Kemp, Paul M Smith, Angela Pyle, et al.
Nature Communications|July 4, 2014
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasiaVeronika Boczonadi, Juliane S Müller, Angela Pyle, et al.
Pageof 12

Showing results (91-100 of 119) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics. Part A|October 14, 2024
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic ExpansionHebatallah M Hassaan, Angela Pyle, Nihal Almenabawy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseVeronika Boczonadi, Martin S King, Anthony C Smith, et al.
Journal of Neuromuscular Diseases|September 18, 2015
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the <i>C12orf65</i> GeneAngela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, et al.
Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
American Journal of Human Genetics|September 6, 2014
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathyDavid N Herrmann, Rita Horvath, Janet E Sowden, 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.
Stem Cells (Dayton, Ohio)|November 29, 2019
Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryosLaila Noli, Shirin E Khorsandi, Angela Pyle, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2012
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathyRita Horvath, Elke Holinski-Feder, Vivienne C M Neeve, et al.
Brain : a Journal of Neurology|December 21, 2010
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyJohn P Kemp, Paul M Smith, Angela Pyle, et al.
Nature Communications|July 4, 2014
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasiaVeronika Boczonadi, Juliane S Müller, Angela Pyle, et al.
Pageof 12