RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

por Falco, Mariateresa, Amabile, Sonia, Acquaviva, Fabio
Publicado 2017

PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia

por Marmolino, Daniele, Manto, Mario, Acquaviva, Fabio, Vergara, Paola, Ravella, Ajay, Monticelli, Antonella, Pandolfo, Massimo
Publicado 2010

Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis

por De Brasi, Daniele, Orlando, Francesca, Gaeta, Valeria, De Liso, Maria, Acquaviva, Fabio, Martemucci, Luigi, Mastrominico, Augusto, Di Rocco, Maja
Publicado 2021

β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus

por Pinelli, Michele, Giacchetti, Manuela, Acquaviva, Fabio, Cocozza, Sergio, Donnarumma, Giovanna, Lapice, Emanuela, Riccardi, Gabriele, Romano, Geremia, Vaccaro, Olga, Monticelli, Antonella
Publicado 2006

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia

por Coppola, Giovanni, Marmolino, Daniele, Lu, Daning, Wang, Qing, Cnop, Miriam, Rai, Myriam, Acquaviva, Fabio, Cocozza, Sergio, Pandolfo, Massimo, Geschwind, Daniel H.
Publicado 2009

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum

por Passaretti, Francesco, Pignata, Laura, Vitiello, Giuseppina, Alesi, Viola, D’Elia, Gemma, Cecere, Francesco, Acquaviva, Fabio, De Brasi, Daniele, Novelli, Antonio, Riccio, Andrea, Iolascon, Achille, Cerrato, Flavia
Publicado 2022

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

por Pignata, Laura, Cecere, Francesco, Acquaviva, Fabio, D’Angelo, Emilia, Cioffi, Daniela, Pellino, Valeria, Palumbo, Orazio, Palumbo, Pietro, Carella, Massimo, Sparago, Angela, De Brasi, Daniele, Cerrato, Flavia, Riccio, Andrea
Publicado 2023

Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF)

por Pinelli, Michele, Acquaviva, Fabio, Barbetti, Fabrizio, Caredda, Elisabetta, Cocozza, Sergio, Delvecchio, Maurizio, Mozzillo, Enza, Pirozzi, Daniele, Prisco, Francesco, Rabbone, Ivana, Sacchetti, Lucia, Tinto, Nadia, Toni, Sonia, Zucchini, Stefano, Iafusco, Dario
Publicado 2013