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10 results on '"Sacconi, Sabrina"'

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1. Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

2. The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1.

3. A novel CRYAB mutation resulting in multisystemic disease

4. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

5. hCOX18 and hCOX19: Two human genes involved in cytochrome c oxidase assembly

6. Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations.

7. c Oxidase Deficiency Due to a Novel SCO2 Mutation Mimics Werdnig-Hoffmann Disease.

8. Complex Neurologic Syndrome Associated With the G1606A Mutation of Mitochondrial DNA.

9. New variant of necklace fibres display peculiar lysosomal structures and mitophagy.

10. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

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