Paola Da Pozzo
Siena, 53100, Italy
Last Updated: 09/26/2026
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Found 11 publications
Replay to: Phenotypic spectrum of POLG1 mutations.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 12, 2017
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.
Journal: Journal of the neurological sciences
Published: May 24, 2017
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: July 12, 2016
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders.
Journal: Journal of the neurological sciences
Published: April 12, 2016
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.
Journal: Journal of neurology
Published: November 15, 2015
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: April 09, 2015
Redefining phenotypes associated with mitochondrial DNA single deletion.
Journal: Journal of neurology
Published: December 18, 2014
Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed.
Journal: Journal of the neurological sciences
Published: November 01, 2014
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.
Journal: Journal of the neurological sciences
Published: August 06, 2013
Mitochondria, oxidative stress and neurodegeneration.
Journal: Journal of the neurological sciences
Published: March 05, 2012
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation.
Journal: Journal of the neurological sciences
Published: January 30, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026