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Emma L Blakely

Showing results (21-30 of 95) with videos related to

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Neuromuscular Disorders : NMD|April 20, 2020
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA<sup>Pro</sup>) gene variantPushpa Raj Joshi, Karen Baty, Sila Hopton, et al.
Neuromuscular Disorders : NMD|September 11, 2007
The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathyRobert McFarland, Helen Swalwell, Emma L Blakely, et al.
Neuromuscular Disorders : NMD|May 6, 2014
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutationEmma L Blakely, Charlotte L Alston, Bryan Lecky, et al.
Cerebellum & Ataxias|December 8, 2015
Mitochondrial pathology in progressive cerebellar ataxiaDavid Bargiela, Priya Shanmugarajah, Christine Lo, et al.
Plos One|December 5, 2014
Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscleJohn P Grady, Julie L Murphy, Emma L Blakely, et al.
BMC Research Notes|June 29, 2016
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case reportAsheeta Gupta, Isabel Colmenero, Nicola K Ragge, et al.
Annals of Neurology|September 22, 2007
Prevalence of mitochondrial DNA disease in adultsAndrew M Schaefer, Robert McFarland, Emma L Blakely, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 12, 2012
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutationsGerald Pfeffer, Emma L Blakely, Charlotte L Alston, et al.
Journal of Clinical Medicine|March 19, 2020
Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal EncephalomyopathyKarin Kipper, Max Hecht, Natalicia J Antunes, et al.
Mitochondrion|April 26, 2019
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changesAlbert Z Lim, Emma L Blakely, Karen Baty, et al.
Pageof 10

Showing results (21-30 of 95) with videos related to

Sort By:
Pageof 10
Neuromuscular Disorders : NMD|April 20, 2020
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA<sup>Pro</sup>) gene variantPushpa Raj Joshi, Karen Baty, Sila Hopton, et al.
Neuromuscular Disorders : NMD|September 11, 2007
The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathyRobert McFarland, Helen Swalwell, Emma L Blakely, et al.
Neuromuscular Disorders : NMD|May 6, 2014
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutationEmma L Blakely, Charlotte L Alston, Bryan Lecky, et al.
Cerebellum & Ataxias|December 8, 2015
Mitochondrial pathology in progressive cerebellar ataxiaDavid Bargiela, Priya Shanmugarajah, Christine Lo, et al.
Plos One|December 5, 2014
Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscleJohn P Grady, Julie L Murphy, Emma L Blakely, et al.
BMC Research Notes|June 29, 2016
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case reportAsheeta Gupta, Isabel Colmenero, Nicola K Ragge, et al.
Annals of Neurology|September 22, 2007
Prevalence of mitochondrial DNA disease in adultsAndrew M Schaefer, Robert McFarland, Emma L Blakely, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 12, 2012
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutationsGerald Pfeffer, Emma L Blakely, Charlotte L Alston, et al.
Journal of Clinical Medicine|March 19, 2020
Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal EncephalomyopathyKarin Kipper, Max Hecht, Natalicia J Antunes, et al.
Mitochondrion|April 26, 2019
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changesAlbert Z Lim, Emma L Blakely, Karen Baty, et al.
Pageof 10