30 results on '"Fassone, Elisa"'
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2. Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
3. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: Clinical, biochemical and pathological study
4. Treatable Leigh-like encephalopathy presenting in adolescence
5. Complex I deficiency: clinical features, biochemistry and molecular genetics
6. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy
7. Kearns–Sayre syndrome caused by defective R1/p53R2 assembly
8. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
9. Mitochondrial Respiratory Chain Dysfunction in Muscle From Patients With Amyotrophic Lateral Sclerosis
10. TRNT1 deficiency: clinical, biochemical and molecular genetic features
11. BIOCHEMICAL AND GENETIC APPROACHES TO UNRAVEL MITOCHONDRIAL COMPLEX I DEFICIENCY
12. Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia
13. The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment
14. Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation
15. Self-welding 1-butene/ethylene copolymers from metallocene catalysts: Structure, morphology, and mechanical properties
16. Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability
17. The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment
18. Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation
19. A novel homozygous deletion in NDUFS4 causes complex I deficient Leigh syndrome
20. The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment
21. Mitochondrial DNA G8363A mutation in the tRNALys gene: Clinical, biochemical and pathological study
22. The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency
23. Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
24. Self-welding 1-butene/ethylene copolymers from metallocene catalysts: Structure, morphology, and mechanical properties.
25. The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
26. TRNT1 deficiency: clinical, biochemical and molecular genetic features
27. The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment
28. Mitochondrial DNA G8363A mutation in the tRNALys gene: Clinical, biochemical and pathological study
29. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
30. The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
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