12 results on '"Alston, Charlotte L"'
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2. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
3. Three families with ‘de novo’ m.3243A > G mutation
4. Dysferlin mutations and mitochondrial dysfunction
5. Mitochondrial dysfunction in myofibrillar myopathy
6. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease
7. Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy
8. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy
9. The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant
10. The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype
11. A novel mitochondrial tRNA Glu ( MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle
12. Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation
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