Matteo Farnè

Affiliations

Department of Statistical Sciences, University of Bologna, Bologna, Italy.

Publications (10)

Functional Characterization of Two Novel Mutations in

International journal of molecular sciences

Avec: Cristina Balla , Elena Conte , Rita Selvatici , Renè Massimiliano Marsano , Andrea Gerbino , Marianna Farnè , Rikard Blunck , Francesco Vitali , Annarita Armaroli , Alessandro Brieda , Antonella Liantonio , Annamaria De Luca , Alessandra Ferlini , Claudio Rapezzi , Matteo Bertini , Francesca Gualandi , Paola Imbrici

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.

Orphanet journal of rare diseases

Avec: Fernanda Fortunato , Francesca Bianchi , Giulia Ricci , Francesca Torri , Francesca Gualandi , Marcella Neri , Marianna Farnè , Fabio Giannini , Alessandro Malandrini , Nila Volpi , Diego Lopergolo , Vincenzo Silani , Nicola Ticozzi , Federico Verde , Davide Pareyson , Silvia Fenu , Silvia Bonanno , Vincenzo Nigro , Cristina Peduto , Paola D'Ambrosio , Roberta Zeuli , Mariateresa Zanobio , Esther Picillo , Serenella Servidei , Guido Primiano , Cristina Sancricca , Monica Sciacco , Roberta Brusa , Massimiliano Filosto , Stefano Cotti Piccinelli , Elena Pegoraro , Tiziana Mongini , Luca Solero , Giulio Gadaleta , Chiara Brusa , Carlo Minetti , Claudio Bruno , Chiara Panicucci , Valeria A Sansone , Christian Lunetta , Alice Zanolini , Antonio Toscano , Alessia Pugliese , Giulia Nicocia , Enrico Bertini , Michela Catteruccia , Daria Diodato , Antonio Atalaia , Teresinha Evangelista , Gabriele Siciliano , Alessandra Ferlini

mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies.

Scientific reports

Avec: Maria Sofia Falzarano , Martina Mietto , Fernanda Fortunato , Marianna Farnè , Fernanda Martini , Pierpaolo Ala , Rita Selvatici , Francesco Muntoni , Alessandra Ferlini

Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene.

Journal of cardiovascular development and disease

Avec: Cristina Balla , Martina De Raffele , Maria Angela Deserio , Mariabeatrice Sanchini , Marianna Farnè , Cecilia Trabanelli , Luca Ragni , Mauro Biffi , Alessandra Ferlini , Claudio Rapezzi , Francesca Gualandi , Matteo Bertini

The DMD gene and therapeutic approaches to restore dystrophin.

Neuromuscular disorders : NMD

Avec: Fernanda Fortunato , Marianna Farnè , Alessandra Ferlini

TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.

European journal of medical genetics

Avec: Marianna Farnè , Fernanda Fortunato , Marcella Neri , Matteo Farnè , Cristina Balla , Emilio Albamonte , Andrea Barp , Annarita Armaroli , Enrica Perugini , Valeria Carinci , Marco Facchini , Luca Chiarini , Valeria A Sansone , Sofia Straudi , Valeria Tugnoli , Elisabetta Sette , Mariachiara Sensi , Matteo Bertini , Teresinha Evangelista , Alessandra Ferlini , Francesca Gualandi

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.

American journal of medical genetics. Part A

Avec: Marianna Farnè , Giovanna M Tedesco , Chiara Bedetti , Amedea Mencarelli , Daniela Rogaia , Davide Colavito , Giuseppe Di Cara , Gabriela Stangoni , Stefania Troiani , Alessandra Ferlini , Paolo Prontera

Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.

American journal of medical genetics. Part A

Avec: Marianna Farnè , Laura Bernardini , Anna Capalbo , Giusy Cavarretta , Barbara Torres , Mariabeatrice Sanchini , Sergio Fini , Alessandra Ferlini , Stefania Bigoni

SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.

Journal of cardiovascular medicine (Hagerstown, Md.)

Avec: Laura Tonelli , Cristina Balla , Marianna Farnè , Alice Margutti , Eugenia Tiziana Maniscalchi , Gaetano De Feo , Assunta Di Domenico , Martina De Raffele , Antonio Percesepe , Vera Uliana , Valeria Barili , Walter Serra , Biagio Sassone , Santo Virzì , Elia De Maria , Giulia Parmeggiani , Gabriele Egidy Assenza , Elena Biagini , Vanda Parisi , Mauro Biffi , Valeria Carinci , Enrica Perugini , Paola Imbrici , Alessandra Ferlini , Matteo Bertini , Rita Selvatici , Francesca Gualandi

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.

PloS one

Avec: Nicolas Garnier , Joanne Berghout , Aldona Zygmunt , Deependra Singh , Kui A Huang , Waltraud Kantz , Carl Rudolf Blankart , Sandra Gillner , Jiawei Zhao , Richard Roettger , Christina Saier , Jan Kirschner , Joern Schenk , Leon Atkins , Nuala Ryan , Kaja Zarakowska , Jana Zschüntzsch , Michela Zuccolo , Matthias Müllenborn , Yuen-Sum Man , Liz Goodman , Marie Trad , Anne Sophie Chalandon , Stefaan Sansen , Maria Martinez-Fresno , Shirlene Badger , Rudolf Walther van Olden , Robert Rothmann , Patrick Lehner , Christof Tschohl , Ludovic Baillon , Gulcin Gumus , Edith Gross , Rumen Stefanov , Georgi Iskrov , Ralitsa Raycheva , Kostadin Kostadinov , Elena Mitova , Moshe Einhorn , Yaron Einhorn , Josef Schepers , Miriam Hübner , Frauke Alves , Rowan Iskandar , Rudolf Mayer , Alessandra Renieri , Aneta Piperkova , Ivo Gut , Sergi Beltran , Mads Emil Matthiesen , Marion Poetz , Mats Hansson , Regina Trollmann , Emanuele Agolini , Silvia Ottombrino , Antonio Novelli , Enrico Bertini , Rita Selvatici , Marianna Farnè , Fernanda Fortunato , Alessandra Ferlini

Réseau de co-auteurs

Marianna Farnè 10 collaborations

Alessandra Ferlini 10 collaborations

Francesca Gualandi 5 collaborations

Fernanda Fortunato 5 collaborations

Cristina Balla 4 collaborations

Rita Selvatici 4 collaborations

Matteo Bertini 4 collaborations

Annarita Armaroli 2 collaborations

Claudio Rapezzi 2 collaborations

Paola Imbrici 2 collaborations

Marcella Neri 2 collaborations

Valeria A Sansone 2 collaborations

Enrico Bertini 2 collaborations

Teresinha Evangelista 2 collaborations

Martina De Raffele 2 collaborations

Mariabeatrice Sanchini 2 collaborations

Mauro Biffi 2 collaborations

Enrica Perugini 2 collaborations

Valeria Carinci 2 collaborations

Elena Conte 1 collaboration

Renè Massimiliano Marsano 1 collaboration

Andrea Gerbino 1 collaboration

Rikard Blunck 1 collaboration

Francesco Vitali 1 collaboration

Alessandro Brieda 1 collaboration

Antonella Liantonio 1 collaboration

Annamaria De Luca 1 collaboration

Francesca Bianchi 1 collaboration

Giulia Ricci 1 collaboration

Francesca Torri 1 collaboration

Fabio Giannini 1 collaboration

Alessandro Malandrini 1 collaboration

Nila Volpi 1 collaboration

Diego Lopergolo 1 collaboration

Vincenzo Silani 1 collaboration

Nicola Ticozzi 1 collaboration

Federico Verde 1 collaboration

Davide Pareyson 1 collaboration

Silvia Fenu 1 collaboration

Silvia Bonanno 1 collaboration

Vincenzo Nigro 1 collaboration

Cristina Peduto 1 collaboration

Paola D'Ambrosio 1 collaboration

Roberta Zeuli 1 collaboration

Mariateresa Zanobio 1 collaboration

Esther Picillo 1 collaboration

Serenella Servidei 1 collaboration

Guido Primiano 1 collaboration

Cristina Sancricca 1 collaboration

Monica Sciacco 1 collaboration

Roberta Brusa 1 collaboration

Massimiliano Filosto 1 collaboration

Stefano Cotti Piccinelli 1 collaboration

Elena Pegoraro 1 collaboration

Tiziana Mongini 1 collaboration

Luca Solero 1 collaboration

Giulio Gadaleta 1 collaboration

Chiara Brusa 1 collaboration

Carlo Minetti 1 collaboration

Claudio Bruno 1 collaboration

Chiara Panicucci 1 collaboration

Christian Lunetta 1 collaboration

Alice Zanolini 1 collaboration

Antonio Toscano 1 collaboration

Alessia Pugliese 1 collaboration

Giulia Nicocia 1 collaboration

Michela Catteruccia 1 collaboration

Daria Diodato 1 collaboration

Antonio Atalaia 1 collaboration

Gabriele Siciliano 1 collaboration

Maria Sofia Falzarano 1 collaboration

Martina Mietto 1 collaboration

Fernanda Martini 1 collaboration

Pierpaolo Ala 1 collaboration

Francesco Muntoni 1 collaboration

Maria Angela Deserio 1 collaboration

Cecilia Trabanelli 1 collaboration

Luca Ragni 1 collaboration

Emilio Albamonte 1 collaboration

Andrea Barp 1 collaboration

Marco Facchini 1 collaboration

Luca Chiarini 1 collaboration

Sofia Straudi 1 collaboration

Valeria Tugnoli 1 collaboration

Elisabetta Sette 1 collaboration

Mariachiara Sensi 1 collaboration

Giovanna M Tedesco 1 collaboration

Chiara Bedetti 1 collaboration

Amedea Mencarelli 1 collaboration

Daniela Rogaia 1 collaboration

Davide Colavito 1 collaboration

Giuseppe Di Cara 1 collaboration

Gabriela Stangoni 1 collaboration

Stefania Troiani 1 collaboration

Paolo Prontera 1 collaboration

Laura Bernardini 1 collaboration

Anna Capalbo 1 collaboration

Giusy Cavarretta 1 collaboration

Barbara Torres 1 collaboration

Sergio Fini 1 collaboration

Stefania Bigoni 1 collaboration

Laura Tonelli 1 collaboration

Alice Margutti 1 collaboration

Eugenia Tiziana Maniscalchi 1 collaboration

Gaetano De Feo 1 collaboration

Assunta Di Domenico 1 collaboration

Antonio Percesepe 1 collaboration

Vera Uliana 1 collaboration

Valeria Barili 1 collaboration

Walter Serra 1 collaboration

Biagio Sassone 1 collaboration

Santo Virzì 1 collaboration

Elia De Maria 1 collaboration

Giulia Parmeggiani 1 collaboration

Gabriele Egidy Assenza 1 collaboration

Elena Biagini 1 collaboration

Vanda Parisi 1 collaboration

Nicolas Garnier 1 collaboration

Joanne Berghout 1 collaboration

Aldona Zygmunt 1 collaboration

Deependra Singh 1 collaboration

Kui A Huang 1 collaboration

Waltraud Kantz 1 collaboration

Carl Rudolf Blankart 1 collaboration

Sandra Gillner 1 collaboration

Jiawei Zhao 1 collaboration

Richard Roettger 1 collaboration

Christina Saier 1 collaboration

Jan Kirschner 1 collaboration

Joern Schenk 1 collaboration

Leon Atkins 1 collaboration

Nuala Ryan 1 collaboration

Kaja Zarakowska 1 collaboration

Jana Zschüntzsch 1 collaboration

Michela Zuccolo 1 collaboration

Matthias Müllenborn 1 collaboration

Yuen-Sum Man 1 collaboration

Liz Goodman 1 collaboration

Marie Trad 1 collaboration

Anne Sophie Chalandon 1 collaboration

Stefaan Sansen 1 collaboration

Maria Martinez-Fresno 1 collaboration

Shirlene Badger 1 collaboration

Rudolf Walther van Olden 1 collaboration

Robert Rothmann 1 collaboration

Patrick Lehner 1 collaboration

Christof Tschohl 1 collaboration

Ludovic Baillon 1 collaboration

Gulcin Gumus 1 collaboration

Edith Gross 1 collaboration

Rumen Stefanov 1 collaboration

Georgi Iskrov 1 collaboration

Ralitsa Raycheva 1 collaboration

Kostadin Kostadinov 1 collaboration

Elena Mitova 1 collaboration

Moshe Einhorn 1 collaboration

Yaron Einhorn 1 collaboration

Josef Schepers 1 collaboration

Miriam Hübner 1 collaboration

Frauke Alves 1 collaboration

Rowan Iskandar 1 collaboration

Rudolf Mayer 1 collaboration

Alessandra Renieri 1 collaboration

Aneta Piperkova 1 collaboration

Ivo Gut 1 collaboration

Sergi Beltran 1 collaboration

Mads Emil Matthiesen 1 collaboration

Marion Poetz 1 collaboration

Mats Hansson 1 collaboration

Regina Trollmann 1 collaboration

Emanuele Agolini 1 collaboration

Silvia Ottombrino 1 collaboration

Antonio Novelli 1 collaboration