P. Pozzo

发表

Mitochondria, oxidative stress and neurodegeneration

A. Federico, P. Formichi, E. Cardaioli, 2012, Journal of the Neurological Sciences.

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation

E. Malfatti, A. Federico, A. Malandrini, 2012, Journal of the Neurological Sciences.

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene

E. Malfatti, A. Federico, M. Dotti, 2011, Journal of the Neurological Sciences.

A novel point mutation in the mitochondrial tRNA(Trp) gene produces late-onset encephalomyopathy, plus additional features

E. Malfatti, A. Federico, A. Malandrini, 2010, Journal of the Neurological Sciences.

A novel heteroplasmic tRNALeu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia

A. Federico, M. Dotti, E. Cardaioli, 2005 .

Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNAser(UCN) gene

A. Federico, N. Stefano, A. Malandrini, 2006, Neuromuscular Disorders.

Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders

A. Federico, M. Dotti, F. Giannini, 2016, Journal of the Neurological Sciences.

Oral discomfort and hormone replacement therapy in the post-menopause.

F. Petraglia, A. Genazzani, A. Forabosco, 1991, Maturitas.

Pattern of plasma opioids in menstrually-related migraine and epilepsy.

L. Murri, U. Bonuccelli, A. Genazzani, 1986, Functional neurology.

Redefining phenotypes associated with mitochondrial DNA single deletion

G. Comi, M. Zeviani, M. Mancuso, 2015, Journal of Neurology.

Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families

A. Federico, M. Dotti, R. Franceschini, 2017, Journal of the Neurological Sciences.

MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES

E. Malfatti, A. Federico, E. Cardaioli, 2009 .

Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA

E. Malfatti, A. Malandrini, A. Federico, 2008, Journal of the Neurological Sciences.

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia

A. Federico, A. Malandrini, C. Battisti, 2014, Journal of the Neurological Sciences.

Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed

A. Federico, A. Malandrini, M. Dotti, 2015, Journal of the Neurological Sciences.

A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss

E. Malfatti, A. Federico, A. Malandrini, 2007, Neuromuscular Disorders.

Epigenetic cues in midbrain dopaminergic neuron development

C. Perrone-Capano, P. Pozzo, U. Porzio, 2000, Neuroscience & Biobehavioral Reviews.

A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

M. Zeviani, E. Malfatti, A. Federico, 2009, European Journal of Human Genetics.

Tonic pain time-dependently affects β-endorphin-like immunoreactivity in the ventral periaqueductal gray matter of the rat brain

C. Porro, A. Genazzani, F. Facchinetti, 1988, Neuroscience Letters.

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

A. Federico, M. Dotti, A. Caporossi, 2006, Journal of Neurology.

High frequency of OPA1 mutations causing high ADOA prevalence in south‐eastern Sicily, Italy

A. Federico, L. Pavone, E. Cardaioli, 2012, Clinical genetics.

Four novel CYP27A1 mutations in seven Italian patients with CTX

A. Federico, M. Dotti, E. Cardaioli, 2010, European journal of neurology.