34 results on '"MELCHIONDA, LAURA"'
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2. Role of the small protein Mco6 in the mitochondrial sorting and assembly machinery
3. Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature
4. Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions
5. VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
6. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast
7. Structural Basis of Membrane Protein Chaperoning through the Mitochondrial Intermembrane Space
8. Structural Basis of Membrane Protein Chaperoning through the Mitochondrial Intermembrane Space
9. MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders
10. New genes involved in mitochondrial and neurodegenerative diseases identified by whole exome sequencing
11. Chaperone mediated autophagy in Parkinson's disease: Study in peripheral blood cells from patients and in a cellular model
12. Assessment of chaperone-mediated autophagy in circulating lymphomonocytes of patients with Parkinson disease
13. Macroautophagy is not altered in ALS lymphomonocytes
14. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
15. Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease
16. A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions
17. Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
18. VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies
19. Reduced expression of the chaperone-mediated autophagy carrier hsc70 protein in lymphomonocytes of patients with Parkinson's disease
20. Rotenone upregulates alpha-synuclein and myocyte enhancer factor 2D independently from lysosomal degradation inhibition
21. A panel of macroautophagy markers in lymphomonocytes of patients with amyotrophic lateral sclerosis
22. Chaperone mediated autophagy in Parkinson's disease: Study in peripheral blood cells from patients and in a cellular model
23. Dysfunction of chaperone-mediated autophagy in lymphomonocytes from patients with Parkinson's disease and in a cellular model
24. Macroautophagy is not altered in ALS lymphomonocytes
25. Assessment of chaperone-mediated autophagy in circulating lymphomonocytes of patients with Parkinson disease
26. Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
27. Rotenone Upregulates Alpha-Synuclein and Myocyte Enhancer Factor 2D Independently from Lysosomal Degradation Inhibition
28. Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
29. A panel of macroautophagy markers in lymphomonocytes of patients with amyotrophic lateral sclerosis
30. Novel (ovario) leukodystrophy related to AARS2 mutations.
31. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
32. A panel of macroautophagy markers in lymphomonocytes of patients with amyotrophic lateral sclerosis.
33. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
34. Subcellular fractionation by differential centrifugation for mitochondrial studies.
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