Caterina Caputi | Ricerc@Sapienza

Publications

Title	Published on	Year
Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase	REDOX BIOLOGY	2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome	EUROPEAN JOURNAL OF HUMAN GENETICS	2024
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	STEM CELL RESEARCH	2023
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene	MOVEMENT DISORDERS CLINICAL PRACTICE	2023
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations	JOURNAL OF NEUROLOGY	2022
PRICKLE1-Related Disorders	GENEREVIEWS	2022
Novel unconventional variants expand the allelic spectrum of OPHN1 gene	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2021
A NGS-based analysis on a large cohort of ataxic patients refines the clinical spectrum associated with SCA21	EUROPEAN JOURNAL OF NEUROLOGY	2021
Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone	FRONTIERS IN GENETICS	2021
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing	CEREBELLUM	2021
NGS in hereditay ataxia: when rare becomes frequent	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2021
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance	HUMAN MUTATION	2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus	BRAIN	2021
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2020
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder	PARKINSONISM & RELATED DISORDERS	2019
Ataxia-telangiectasia. A new remitting form with a peculiar transcriptome signature	NEUROLOGY. GENETICS	2018
The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study	MOLECULAR GENETICS AND METABOLISM	2015