Caterina Caputi

Rome, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase.

Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase.

Journal: Redox biology

Published: August 07, 2024

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

Journal: European journal of human genetics : EJHG

Published: May 27, 2024

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

Journal: Cancer medicine

Published: November 11, 2022

Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.

Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.

Journal: Stem cell research

Published: October 08, 2022

Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene.

Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene.

Journal: Movement disorders clinical practice

Published: July 27, 2022

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

Journal: Cerebellum (London, England)

Published: November 22, 2021

Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone.

Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone.

Journal: Frontiers in genetics

Published: August 16, 2021

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Journal: International journal of molecular sciences

Published: June 23, 2021

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Journal: Brain : a journal of neurology

Published: April 13, 2021

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

Journal: Journal of neurology

Published: April 03, 2021

A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.

A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.

Journal: European journal of neurology

Published: January 19, 2021

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.

Journal: Human mutation

Published: December 30, 2020

Showing 1-12 of 18

Last Updated: 09/26/2026