35 results on '"Taylor, Robert"'
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2. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy
3. Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant
4. Dysferlin mutations and mitochondrial dysfunction
5. Mitochondrial dysfunction in myofibrillar myopathy
6. A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy
7. Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy
8. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle
9. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy
10. A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity
11. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance
12. The m.5650G > A mitochondrial tRNA Ala mutation is pathogenic and causes a phenotype of pure myopathy
13. Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant
14. A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
15. A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
16. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA Ser(UCN) gene
17. The diagnosis of mitochondrial muscle disease
18. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis
19. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
20. A novel mitochondrial DNA tRNA Ile (A4267G) mutation in a sporadic patient with mitochondrial myopathy
21. Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
22. Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
23. A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease
24. The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype
25. Distal weakness with respiratory insufficiency caused by the m.8344A>G “MERRF” mutation
26. Neuromuscular disease presentation with three genetic defects involving two genomes
27. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy
28. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy
29. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene
30. Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation
31. A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy
32. Distal weakness with respiratory insufficiency caused by the m.8344A>G 'MERRF' mutation
33. A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease
34. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy
35. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene
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