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36 results on '"VALENTINO, MARIA"'

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1. Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy

3. Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation

5. SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

6. Headache in beta-thalassemia: An Italian multicenter clinical, conventional MRI and MR-angiography case-control study

8. Incomplete penetrance in mitochondrial optic neuropathies

10. Early Macular Retinal Ganglion Cell Loss in Dominant Optic Atrophy: Genotype-Phenotype Correlation

12. Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

14. OPAopathies: Widening the spectrum of human diseases associated with mutations in the OPA1 gene

15. KIRs and their HLA ligands in Remitting–Relapsing Multiple Sclerosis

17. OPA1 Mutations Associated with Dominant Optic Atrophy Influence Optic Nerve Head Size

20. Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion

21. HLA-Cw allele frequencies in northern and southern Italy

22. Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis

23. Assessing Heteroplasmic Load in Leber's Hereditary Optic Neuropathy Mutation 3460G→A/MT-ND1 with A Real-Time PCR Quantitative Approach

24. Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

27. Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees

28. Mitochondrial Neurogastrointestinal Encephalomyopathy: Evidence of Mitochondrial DNA Depletion in the Small Intestine

30. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy

35. MAPK15-ULK1 signaling regulates mitophagy of airway epithelial cell in chronic obstructive pulmonary disease

36. Incomplete penetrance in mitochondrial optic neuropathies

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