Annarita Armaroli

Parma, Italy

Last Updated: 09/26/2026

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Found 22 publications

Real world outcomes of Fabry disease in Italian excellence centers: the ground study.

Real world outcomes of Fabry disease in Italian excellence centers: the ground study.

Journal: Orphanet journal of rare diseases

Published: August 04, 2025

TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.

TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.

Journal: European journal of medical genetics

Published: November 11, 2022

Academic achievement and needs of school-aged children born with selected congenital anomalies: A systematic review and meta-analysis.

Academic achievement and needs of school-aged children born with selected congenital anomalies: A systematic review and meta-analysis.

Journal: Birth defects research

Published: September 12, 2021

Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.

Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.

Journal: International journal of molecular sciences

Published: May 12, 2021

Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.

Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.

Journal: Frontiers in physiology

Published: March 10, 2021

Corrigendum to: "Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression". [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138-1147.].

Corrigendum to: "Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression". [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138-1147.].

Journal: Biochimica et biophysica acta. Gene regulatory mechanisms

Published: November 04, 2020

Hypospadias prevalence in the Emilia Romagna Region registry: Increasing or methodology?

Hypospadias prevalence in the Emilia Romagna Region registry: Increasing or methodology?

Journal: Journal of pediatric urology

Published: April 16, 2020

Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies.

Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies.

Journal: Circulation. Genomic and precision medicine

Published: March 11, 2020

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies.

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies.

Journal: PLoS medicine

Published: December 20, 2019

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Journal: Biochimica et biophysica acta. Gene regulatory mechanisms

Published: May 09, 2017

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Journal: Human mutation

Published: November 16, 2016

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype.

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype.

Journal: Human gene therapy

Published: August 18, 2016

Showing 1-12 of 22

Last Updated: 09/26/2026