29 results on '"Blakely, Emma"'
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2. NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS–SAYRE SYNDROME
3. NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS–SAYRE SYNDROME
4. Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions
5. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
6. Clinical and Pathological Features of Mitochondrial DNA Deletion Disease Following Antiretroviral Treatment
7. Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
8. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
9. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
10. Disease progression in patients with single, large-scale mitochondrial DNA deletions
11. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies
12. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast
13. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
14. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
15. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
16. Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome
17. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3
18. Sensory neuronopathy in patients harbouring recessive polymerase γ mutations
19. A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations†
20. Mitochondrial Transfer RNAPhe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity
21. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
22. Isolated Distal Myopathy of the Upper Limbs Associated With Mitochondrial DNA Depletion and Polymerase γ Mutations
23. Pathogenic Mitochondrial tRNA Mutations - Which Mutations Are Inherited and Why?: Mutation in Brief
24. A New Mitochondrial Transfer RNAPro Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features
25. Resistance training in patients with single, large-scale deletions of mitochondrial DNA
26. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
27. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast
28. OPHTHALMOPLEGIA DUE TO MITOCHONDRIAL DNA DISEASE: THE NEED for GENETIC DIAGNOSIS
29. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
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