Elisa Giorgio

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 6

Top Venues

Human mutation

Journal of medical genetics

American journal of medical genetics. Part A

Annals of neurology

University of Torino

University of Torino (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Torino Jan 01 2015

Italy

post doc fellow :: Dep Medical Sciences

University of Torino Jan 01 2011 - Dec 31 2014

Italy

PhD student :: Dep Medical Sciences

Galliera Hospital Dec 01 2009 - Dec 31 2010

Italy

fellow :: Human Genetics Laboratory

University of Genova Jun 01 2009 - Dec 31 2009

Italy

fellow :: Department of Neurology, Ophthalmology and Genetics

Education History

University of Torino Jan 01 2011 - Jan 27 2015

Italy

PHD :: Department of Medical Sciences

Publications

Paola Dimartino, Mariia Zadorozhna, Verónica Yumiceba, Anna Basile, Ilaria Cani, Uirá Souto Melo, Jana Henck, Marjolein Breur, Caterina Tonon, Raffaele Lodi, Alfredo Brusco, Tommaso Pippucci, Foteini-Dionysia Koufi, Elisa Boschetti, Giulia Ramazzotti, Lucia Manzoli, Stefano Ratti, Filippo Pinto E Vairo, Martin B Delatycki, Giovanna Vaula, Pietro Cortelli, Marianna Bugiani, Malte Spielmann, Elisa Giorgio
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy. Annals of neurology (2024)
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, Meriel McEntagart, Tessa Homfray, Elisa Giorgio, Guido C Casalis Cavalchini, Alfredo Brusco, Maria Iascone, Luigina Spaccini, Patrizia D'Oria, Marco Savarese, Bjarne Udd
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum. Journal of medical genetics (2023)
Lisa Pavinato, Slavica Trajkova, Enrico Grosso, Elisa Giorgio, Alessandro Bruselles, Francesca Clementina Radio, Tommaso Pippucci, Paola Dimartino, Tartaglia Marco, Aleksandar Petlichkovski, Silvia De Rubeis, Joseph D Buxbaum, Giovanbattista Giovanni Battista Ferrero, Roberto Keller, Alfredo Brusco
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. American journal of medical genetics. Part A 185 (6) (2021)
Giovanni Birolo, Serena Aneli, Cornelia Di Gaetano, Giovanni Cugliari, Alessia Russo, Alessandra Allione, Elisabetta Casalone, Elisa Giorgio, Elvezia Maria Paraboschi, Diego Ardissino, Stefano Duga, Rosanna Asselta, Giuseppe Matullo
Functional and clinical implications of genetic structure in 1686 Italian exomes. Human mutation 42 (3) (2021)
Elisa Giorgio, Emanuela Pesce, Elisa Pozzi, Elvira Sondo, Marta Ferrero, Cristina Morerio, Giusy Borrelli, Edoardo Della Sala, Martina Lorenzati, Pietro Cortelli, Annalisa Buffo, Nicoletta Pedemonte, Alfredo Brusco
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy. Human mutation 42 (1) (2020)
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Journal of medical genetics (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Elisa Giorgio