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22 results on '"VALENTINO, MARIA"'

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2. TWNKin Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

3. Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations

4. Epilepsy in MT ‐ ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy

5. ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

8. Novel mutations in DNA2 associated with myopathy and mtDNA instability

9. Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation

10. Syndromic parkinsonism and dementia associated withOPA1 missense mutations

11. Myoclonus in mitochondrial disorders

12. Brain diffusion‐weighted imaging in Friedreich's ataxia

16. Deficit of in vivo mitochondrial ATP production in OPA1‐related dominant optic atrophy

17. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

21. Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations

22. Novel mutations in DNA2 associated with myopathy and mtDNA instability

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