De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report

by Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Giuseppe Nappi, Marcella Neri, Cristina Cereda
Published 2017-06-01

Erratum to: De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report

by Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Nappi Giuseppe, Marcella Neri, Cristina Cereda
Published 2017-07-01

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

by Matteo Bovolenta, Daniela Erriquez, Emanuele Valli, Simona Brioschi, Chiara Scotton, Marcella Neri, Maria Sofia Falzarano, Samuele Gherardi, Marina Fabris, Paola Rimessi, Francesca Gualandi, Giovanni Perini, Alessandra Ferlini
Published 2012-01-01

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

by Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, Dario Roccatello, Savino Sciascia, Elisa Menegatti, Giuseppe Remuzzi, Erica Daina, Paraskevas Iatropoulos, Bruno Bembi, Rosalia Maria Da Riol, Alessandra Ferlini, Marcella Neri, Giuseppe Novelli, Federica Sangiuolo, Francesco Brancati, Domenica Taruscio
Published 2020-09-01

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

by Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Francesco Brancati, Marco Salvatore, Maria Chiara De Stefano, Domenica Taruscio, Leonardo Trombelli, Mingyan Fang, Mingyan Fang, Alessandra Ferlini, Alessandra Ferlini
Published 2019-01-01

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

by Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Eugenio Mercuri, Alessandra Ferlini, Alessandra Ferlini
Published 2020-03-01