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Caterina Caputi

Observed names: C. Caputi, Caputi, Caterina
ORCID: 0000-0001-5972-1185
Observed ORCID: 0000-0001-5972-1185
OpenAlex ID: A5044236394
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
2021 · Serena Galosi, Ban H Edani, et al. · Brain · 42
The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study
2015 · Mario Mastrangelo, Flavia Chiarotti, et al. · Molecular Genetics and Metabolism · 37
NGS in Hereditary Ataxia: When Rare Becomes Frequent
2021 · Daniele Galatolo, Giovanna De Michele, et al. · International Journal of Molecular Sciences · 32
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KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes
2020 · Luca Pollini, Serena Galosi, et al. · International Journal of Molecular Sciences · 31
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Transdermal rotigotine in the treatment of aromatic L ‐amino acid decarboxylase deficiency
2013 · Mario Mastrangelo, Caterina Caputi, et al. · Movement Disorders · 25
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing
2021 · Fulvio D’Abrusco, Filippo Arrigoni, et al. · The Cerebellum · 15
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance
2021 · Sara Nuovo, Valentina Baglioni, et al. · Human Mutation · 15
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Ataxia-telangiectasia
2018 · Vincenzo Leuzzi, Daniela D'Agnano, et al. · Neurology Genetics · 14
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Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
2021 · Giovanna De Michele, Daniele Galatolo, et al. · Journal of Neurology · 13
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A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
2021 · Vittorio Riso, Daniele Galatolo, et al. · European Journal of Neurology · 12
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Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome
2024 · Fulvio D’Abrusco, Valentina Serpieri, et al. · European Journal of Human Genetics · 10
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Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts
2023 · Renata Neves, Blanca De Dios Perez, et al. · Cancer Medicine · 9
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Novel unconventional variants expand the allelic spectrum of OPHN1 gene
2021 · Sara Nuovo, Vesna Brankovic, et al. · American Journal of Medical Genetics Part A · 9
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder
2019 · C. Caputi, M. Tolve, et al. · Parkinsonism & Related Disorders · 9
Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase
2024 · Lorenzo Loffredo, Annarosa Soresina, et al. · Redox Biology · 6
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
2023 · Giovannina Rotundo, Elisa Maria Turco, et al. · Stem Cell Research · 3
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia‐Telangiectasia Mutated Gene
2022 · Caterina Caputi, Giulia Federici, et al. · Movement Disorders Clinical Practice · 3
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Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone
2021 · Sara Biagiotti, Ambra Barone, et al. · Frontiers in Genetics · 1
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Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis_dataset
2021 · D'Abrusco, Fulvio, Arrigoni, Filippo, et al. · Zenodo (CERN European Organization for Nuclear Research)
Teaching Video Neuro Images : Clinical course of infantile ascending hereditary spastic paralysis
2014 · Mario Mastrangelo, Pia Bernasconi, et al. · Neurology
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Works count: 21
Citation count: 286
H-index: 10
I10-index: 11
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