Publications by authors named "Elisa Pozzi"

Claim this Profile
M
MicroRNA dysregulation in ataxia telangiectasia.
Emilia Cirillo, Antonietta Tarallo, Elisabetta Toriello, Annamaria Carissimo, Giuliana Giardino, Elisa Pozzi

Front Immunol· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Efficient wastewater sample filtration improves the detection of SARS-CoV-2 variants: An extensive analysis based on sequencing parameters.
Angelo Robotto, Carlotta Olivero, Elisa Pozzi, Claudia Strumia, Camilla Crasà

PLoS One· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Enza Ferrero, Eleonora Di Gregorio, Marta Ferrero, Erika Ortolan, Young-Ah Moon, Elisa Pozzi

Hum Genet· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study.
Elisa Rubino, Silvia Boschi, Elisa Giorgio, Elisa Pozzi, Andrea Marcinnò

Neurobiol Pain· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy.
Elisa Giorgio, Emanuela Pesce, Elisa Pozzi, Elvira Sondo, Marta Ferrero

Hum Mutat· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
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

Sci Rep· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
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, Elisa Pozzi

Neurobiol Dis· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
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, Elisa Pozzi

J Mol Diagn· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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, Elisa Pozzi

J Neurol Neurosurg Psychiatry· October 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Adverse Perinatal Outcome in Subsequent Pregnancy after Stillbirth by Placental Vascular Disorders.
Francesca Monari, Giulia Pedrielli, Patrizia Vergani, Elisa Pozzi, Federico Mecacci

PLoS One· July 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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, Elisa Pozzi

Eur J Paediatr Neurol· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.
Antonio Costantini, Tiziana Laureti, Maria Immacolata Pala, Marco Colangeli, Simona Cavalieri, Elisa Pozzi

J Neurol· November 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival.
Francesca M Russo, Elisa Pozzi, Maria Verderio, Davide P Bernasconi, Valentina Giardini

Am J Med Genet A· February 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Cecilia Mancini, Laura Orsi, Yiran Guo, Jiankang Li, Yulan Chen, Elisa Pozzi

BMC Med Genet· March 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Stillbirths in singletons, dichorionic and monochorionic twins: a comparison of risks and causes.
Francesca M Russo, Elisa Pozzi, Francesca Pelizzoni, Lyudmyla Todyrenchuk, Davide P Bernasconi

Eur J Obstet Gynecol Reprod Biol· September 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome.
Elisa Pozzi, Patrizia Vergani, Leda Dalprà, Romina Combi, Daniela Silvestri

Am J Obstet Gynecol· June 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Risk assessment for Down syndrome with genetic sonogram in women at risk.
Patrizia Vergani, Alessandro Ghidini, Steven Weiner, Anna Locatelli, Elisa Pozzi

Prenat Diagn· December 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identifying the causes of stillbirth: a comparison of four classification systems.
Patrizia Vergani, Sabrina Cozzolino, Elisa Pozzi, Maria Serena Cuttin, Massimiliano Greco

Am J Obstet Gynecol· September 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Preterm twins: what threshold of birth weight discordance heralds major adverse neonatal outcome?
Patrizia Vergani, Anna Locatelli, Marta Ratti, Antonietta Scian, Elisa Pozzi

Am J Obstet Gynecol· October 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Doppler predictors of adverse neonatal outcome in the growth restricted fetus at 34 weeks' gestation or beyond.
Patrizia Vergani, Camilla Andreotti, Nadia Roncaglia, Giulia Zani, Elisa Pozzi

Am J Obstet Gynecol· October 2003

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis