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You searched for: Author/Creator Bugiardini, Enrico

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1. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. (30th April 2019)

2. Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants. (June 2021)

3. Vestibular dysfunction: a frequent problem for adults with mitochondrial disease. Issue 7 (26th November 2018)

4. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. (3rd November 2021)

5. Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic. Issue 11 (17th September 2020)

6. Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. Issue 11 (22nd February 2018)

7. Primary mitochondrial diseases increase susceptibility to bipolar affective disorder. Issue 8 (11th June 2020)

8. Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant. (April 2020)

9. Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study. Issue 2 (1st July 2019)

10. Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. (June 2017)