Publications by authors named "Simona Cavalieri"

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Moisture-associated skin damage and its management in neonatal and infant populations: a retrospective study in Italy.
Biagio Nicolosi, Eustachio Parente, Alessio Petronici, Leonardo Fioravanti, Simona Cavalieri

J Wound Care· September 2025

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In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.
Elisa Pozzi, Elisa Giorgio, Cecilia Mancini, Nicola Lo Buono, Stefania Augeri, Simona Cavalieri

Sci Rep· November 2020

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Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Cecilia Mancini, Eriola Hoxha, Luisa Iommarini, Alessandro Brussino, Uwe Richter, Simona Cavalieri

Neurobiol Dis· April 2019

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Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
Claudia Cagnoli, Alessandro Brussino, Cecilia Mancini, Marina Ferrone, Laura Orsi, Simona Cavalieri

J Mol Diagn· May 2018

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A novel homozygous change of (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
Elisa Giorgio, Giovanna Vaula, Paolo Benna, Nicola Lo Buono, Chiara Maria Eandi, Simona Cavalieri

J Neurol Neurosurg Psychiatry· October 2017

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Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Elisa Giorgio, Alessandro Brussino, Elisa Biamino, Elga Fabia Belligni, Alessandro Bruselles, Simona Cavalieri

Eur J Paediatr Neurol· May 2017

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A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.
Fabio Sirchia, Eleonora Di Gregorio, Gabriella Restagno, Enrico Grosso, Patrizia Pappi, Simona Cavalieri

Eur J Med Genet· April 2017

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Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.
Antonio Costantini, Tiziana Laureti, Maria Immacolata Pala, Marco Colangeli, Simona Cavalieri

J Neurol· November 2016

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Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Elisa Giorgio, Andrea Ciolfi, Elisa Biamino, Viviana Caputo, Eleonora Di Gregorio, Simona Cavalieri

Am J Med Genet A· July 2016

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Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Eleonora Di Gregorio, Giorgia Gai, Giovanni Botta, Alessandro Calcia, Patrizia Pappi, Simona Cavalieri

Cytogenet Genome Res· June 2016

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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
Elisa Biamino, Eleonora Di Gregorio, Elga Fabia Belligni, Roberto Keller, Evelise Riberi, Simona Cavalieri

Am J Med Genet B Neuropsychiatr Genet· March 2016

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Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia.
Stefania Squadrone, Paola Brizio, Cecilia Mancini, Elisa Pozzi, Simona Cavalieri

Neurobiol Dis· September 2015

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Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Elisa Giorgio, Giovanna Vaula, Giovanni Bosco, Sara Giacone, Cecilia Mancini, Simona Cavalieri

J Neurol Sci· May 2015

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An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Cecilia Mancini, Laura Orsi, Yiran Guo, Jiankang Li, Yulan Chen, Simona Cavalieri

BMC Med Genet· March 2015

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Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Cecilia Mancini, Stefano Nassani, Yiran Guo, Yulan Chen, Elisa Giorgio, Simona Cavalieri

J Neurol· January 2015

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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.
Eleonora Di Gregorio, Elisa Savin, Elisa Biamino, Elga Fabia Belligni, Valeria Giorgia Naretto, Simona Cavalieri

Mol Cytogenet· December 2014

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A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
Eleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, Alessandra M A Chiotto, Marco Rolando, Simona Cavalieri

J Med Genet· August 2013

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SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
Lorenzo Nanetti, Simona Cavalieri, Viviana Pensato, Alessandra Erbetta, Davide Pareyson

Orphanet J Rare Dis· August 2013

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Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).
Simona Cavalieri, Elisa Pozzi, Richard A Gatti, Alfredo Brusco

Eur J Hum Genet· July 2013

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De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.
Emilia Cirillo, Rosa Romano, Alfonso Romano, Giuliana Giardino, Anne Durandy, Simona Cavalieri

Am J Med Genet A· October 2012

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Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
Cecilia Mancini, Giovanna Vaula, Laura Scalzitti, Simona Cavalieri, Enrico Bertini

Neurogenetics· August 2012

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Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
Kotoka Nakamura, Liutao Du, Rashmi Tunuguntla, Francesca Fike, Simona Cavalieri

Hum Mutat· January 2012

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A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.
Paola Porcedda, Valentina Turinetto, Alfredo Brusco, Simona Cavalieri, Erica Lantelme

Cytometry A· June 2008

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Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
Simona Cavalieri, Ada Funaro, Patrizia Pappi, Nicola Migone, Richard A Gatti

Ann Hum Genet· January 2008

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Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress.
Paolo Degan, Marco d'Ischia, Federico V Pallardó, Adriana Zatterale, Alfredo Brusco, Simona Cavalieri

Clin Biochem· June 2007

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