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List of works by Eugenia Borgione

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

scientific article published on 28 April 2010

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome

scientific article published on May 2003

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

scientific article published in April 2009

Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene

article

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

scientific article published on 25 January 2013

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

scientific article

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