The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time

por Priolo, Manuela, Tartaglia, Marco
Publicado 2023

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

por Tartaglia, Marco, Aoki, Yoko, Gelb, Bruce D.
Publicado 2022

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

por Calcagni, Giulio, Digilio, Maria Cristina, Marino, Bruno, Tartaglia, Marco
Publicado 2019

Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency

por Colasuonno, Fiorella, Bertini, Enrico, Tartaglia, Marco, Compagnucci, Claudia, Moreno, Sandra
Publicado 2020

In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale

por Lauri, Antonella, Fasano, Giulia, Venditti, Martina, Dallapiccola, Bruno, Tartaglia, Marco
Publicado 2021

Multidisciplinary Management of Costello Syndrome: Current Perspectives

por Leoni, Chiara, Viscogliosi, Germana, Tartaglia, Marco, Aoki, Yoko, Zampino, Giuseppe
Publicado 2022

Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains

por Fasano, Giulia, Compagnucci, Claudia, Dallapiccola, Bruno, Tartaglia, Marco, Lauri, Antonella
Publicado 2022

Inside the Noonan “universe”: Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns

por Stagi, Stefano, Ferrari, Vittorio, Ferrari, Marta, Priolo, Manuela, Tartaglia, Marco
Publicado 2022

Editorial: Endocrine aspects of Noonan syndrome and related syndromes

por Radetti, Giorgio, Edouard, Thomas, Mazzanti, Laura, Tartaglia, Marco, Zenker, Martin
Publicado 2023

Induced Pluripotent Stem Cells (iPSCs) and Gene Therapy: A New Era for the Treatment of Neurological Diseases

por Paolini Sguazzi, Giulia, Muto, Valentina, Tartaglia, Marco, Bertini, Enrico, Compagnucci, Claudia
Publicado 2021

Structural Determinants of Phosphopeptide Binding to the N-Terminal Src Homology 2 Domain of the SHP2 Phosphatase

por Anselmi, Massimiliano, Calligari, Paolo, Hub, Jochen S., Tartaglia, Marco, Bocchinfuso, Gianfranco, Stella, Lorenzo
Publicado 2020

New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement

por Colasuonno, Fiorella, Marioli, Chiara, Tartaglia, Marco, Bertini, Enrico, Compagnucci, Claudia, Moreno, Sandra
Publicado 2022

Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids

por Borghi, Rossella, Magliocca, Valentina, Trivisano, Marina, Specchio, Nicola, Tartaglia, Marco, Bertini, Enrico, Compagnucci, Claudia
Publicado 2022

Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis

por Borghi, Rossella, Magliocca, Valentina, Petrini, Stefania, Conti, Libenzio Adrian, Moreno, Sandra, Bertini, Enrico, Tartaglia, Marco, Compagnucci, Claudia
Publicado 2021

CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes

por Muto, Valentina, Benigni, Federica, Magliocca, Valentina, Borghi, Rossella, Flex, Elisabetta, Pallottini, Valentina, Rosa, Alessandro, Compagnucci, Claudia, Tartaglia, Marco
Publicado 2023

Neurobehavioral features in individuals with Kabuki syndrome

por Caciolo, Cristina, Alfieri, Paolo, Piccini, Giorgia, Digilio, Maria Cristina, Lepri, Francesca Romana, Tartaglia, Marco, Menghini, Deny, Vicari, Stefano
Publicado 2018

Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency

por Niceforo, Alessia, Marioli, Chiara, Colasuonno, Fiorella, Petrini, Stefania, Massey, Keith, Tartaglia, Marco, Bertini, Enrico, Moreno, Sandra, Compagnucci, Claudia
Publicado 2021

HIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation

por Verdina, Alessandra, Di Rocco, Giuliana, Virdia, Ilaria, Monteonofrio, Laura, Gatti, Veronica, Policicchio, Eleonora, Bruselles, Alessandro, Tartaglia, Marco, Soddu, Silvia
Publicado 2017

A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos

por Venditti, Martina, Pedalino, Catia, Rosello, Marion, Fasano, Giulia, Serafini, Malo, Revenu, Céline, Del Bene, Filippo, Tartaglia, Marco, Lauri, Antonella
Publicado 2022

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey

por Nurchis, Mario Cesare, Raspolini, Gian Marco, Heidar Alizadeh, Aurora, Altamura, Gerardo, Radio, Francesca Clementina, Tartaglia, Marco, Dallapiccola, Bruno, Damiani, Gianfranco
Publicado 2023