Patrizia Formichi

Siena, 53100, Italy

Last Updated: 09/26/2026

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Found 14 publications

CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

Journal: Cells

Published: July 21, 2024

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

Journal: Cells

Published: December 15, 2023

Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.

Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: December 02, 2019

HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers.

HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers.

Journal: Journal of cellular physiology

Published: June 04, 2019

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.

Journal: Journal of cellular physiology

Published: June 29, 2017

Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.

Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.

Journal: Journal of cellular physiology

Published: October 27, 2016

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

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

Journal: Journal of the neurological sciences

Published: April 12, 2016

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

Journal: Journal of the neurological sciences

Published: September 24, 2014

Apoptosis and oxidative stress in neurodegenerative diseases.

Apoptosis and oxidative stress in neurodegenerative diseases.

Journal: Journal of Alzheimer's disease : JAD

Published: July 25, 2014

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.

Journal: Journal of neurology

Published: October 29, 2013

Cerebrolysin administration reduces oxidative stress-induced apoptosis in lymphocytes from healthy individuals.

Cerebrolysin administration reduces oxidative stress-induced apoptosis in lymphocytes from healthy individuals.

Journal: Journal of cellular and molecular medicine

Published: August 14, 2012

Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients.

Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: June 06, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026