The DMD gene and therapeutic approaches to restore dystrophin
Fortunato, Fernanda, Farnè, Marianna, Ferlini, Alessandra
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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Journal Article
Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy
Fortunato, Fernanda, Rossi, Rachele, Falzarano, Maria Sofia, Ferlini, Alessandra
Published in Journal of clinical medicine (17.02.2021)
Published in Journal of clinical medicine (17.02.2021)
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Journal Article
DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
Fortunato, Fernanda, Tonelli, Laura, Farnè, Marianna, Selvatici, Rita, Ferlini, Alessandra
Published in Frontiers in neurology (15.01.2024)
Published in Frontiers in neurology (15.01.2024)
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Journal Article
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies
Falzarano, Maria Sofia, Mietto, Martina, Fortunato, Fernanda, Farnè, Marianna, Martini, Fernanda, Ala, Pierpaolo, Selvatici, Rita, Muntoni, Francesco, Ferlini, Alessandra
Published in Scientific reports (24.09.2023)
Published in Scientific reports (24.09.2023)
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Journal Article
Report of a novel ATP7A mutation causing distal motor neuropathy
Gualandi, Francesca, Sette, Elisabetta, Fortunato, Fernanda, Bigoni, Stefania, De Grandis, Domenico, Scotton, Chiara, Selvatici, Rita, Neri, Marcella, Incensi, Alex, Liguori, Rocco, Storbeck, Markus, Karakaya, Mert, Simioni, Valentina, Squarzoni, Stefano, Timmerman, Vincent, Wirth, Brunhilde, Donadio, Vincenzo, Tugnoli, Valeria, Ferlini, Alessandra
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Journal Article
Patient preferences in genetic newborn screening for rare diseases: study protocol
MARTIN, Sylvia, Angolini, Emanuele, Audi, Jennifer, Bertini, Dr. Enrico, Bruno, Lucia Pia, Coulter, Joshua, Ferlini, Alessandra, Fortunato, Fernanda, Frankova, Vera, Garnier, Nicolas, Grauman, Åsa, Gross, Edith, Hauber, Brett, Hansson, Mats, Kirschner, Janbernd, Knieling, Ferdinand, Kyosovksa, Gergana, Ottombrino, Silvia, Novelli, Antonio, Raming, Roman, Sansen, Stefaan, Saier, Christina, Veldwijk, Jorien
Published in BMJ open (19.04.2024)
Published in BMJ open (19.04.2024)
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Journal Article
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy
Passarelli, Chiara, Selvatici, Rita, Carrieri, Alberto, Di Raimo, Francesca Romana, Falzarano, Maria Sofia, Fortunato, Fernanda, Rossi, Rachele, Straub, Volker, Bushby, Katie, Reza, Mojgan, Zharaieva, Irina, D'Amico, Adele, Bertini, Enrico, Merlini, Luciano, Sabatelli, Patrizia, Borgiani, Paola, Novelli, Giuseppe, Messina, Sonia, Pane, Marika, Mercuri, Eugenio, Claustres, Mireille, Tuffery-Giraud, Sylvie, Aartsma-Rus, Annemieke, Spitali, Pietro, T'Hoen, Peter A C, Lochmüller, Hanns, Strandberg, Kristin, Al-Khalili, Cristina, Kotelnikova, Ekaterina, Lebowitz, Michael, Schwartz, Elena, Muntoni, Francesco, Scapoli, Chiara, Ferlini, Alessandra
Published in Frontiers in genetics (03.07.2020)
Published in Frontiers in genetics (03.07.2020)
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Journal Article
Physicochemical Properties and Effects of Fruit Pulps from the Amazon Biome on Physiological Parameters in Rats
Rosan Fortunato Seixas, Fernanda, Kempfer Bassoli, Bruna, Borghi Virgolin, Lara, Chancare Garcia, Laís, Soares Janzantti, Natália
Published in Nutrients (28.04.2021)
Published in Nutrients (28.04.2021)
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Journal Article
Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions
Fortunato, Fernanda, Ferlini, Alessandra
Published in Journal of Neuromuscular Diseases (01.01.2023)
Published in Journal of Neuromuscular Diseases (01.01.2023)
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Book Review
Journal Article
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
Colucci, Fabiana, Neri, Marcella, Fortunato, Fernanda, Ferlini, Alessandra, Carrozzo, Rosalba, Torraco, Alessandra, Lamantea, Eleonora, Legati, Andrea, Tecilla, Ginevra, Pugliatti, Maura, Sensi, Mariachiara
Published in Cerebellum (London, England) (01.12.2023)
Published in Cerebellum (London, England) (01.12.2023)
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Journal Article
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
Sarkozy, Anna, Quinlivan, Rosaline, Bourke, John P., Ferlini, Alessandra, Barthélémy, Inès, Bourke, John P., Cripe, Linda H, Reuben, Emily, Evangelista, Teresinha, Ferlini, Alessandra, Florian, Anca, Gribnau, Josh, Gonzalez-Quereda, Lidia, Guglieri, Michela, Niks, Erik, Phadke, Rahul, Politano, Luisa, Quinlivan, Ros, Sarkozy, Anna, Vissing, John, Voermans, Nicol, Vroom, Elizabeth, Pietrusz, Aleksandra, Fortunato, Fernanda, Houwen, Saskia
Published in Neuromuscular disorders : NMD (01.03.2023)
Published in Neuromuscular disorders : NMD (01.03.2023)
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Journal Article
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity
Gorgoglione, Domenico, Sabbatini, Daniele, Riguzzi, Pietro, Capece, Giuliana, Pane, Marika, Servidei, Serenella, Briganti, Marta, Sancricca, Cristina, Bruschi, Fabio, Ardissone, Anna, Masson, Riccardo, Gallone, Annamaria, Maggi, Lorenzo, Picillo, Esther, Politano, Luisa, Petrosino, Angela, Vianello, Sara, Penzo, Martina, Villa, Matteo, Sframeli, Maria, Allegra, Cosimo, Barp, Andrea, Di Bari, Alessandra, Salmin, Francesca, Albamonte, Emilio, Colacicco, Giovanni, Panicucci, Chiara, Traverso, Monica, Palermo, Concetta, Lerario, Alberto, Velardo, Daniele, D'Angelo, Maria G, Berardinelli, Angela, Gardani, Alice, Nicotra, Roberta, Parravicini, Stefano, Siciliano, Gabriele, Ricci, Giulia, Torri, Francesca, Gadaleta, Giulio, Urbano, Guido, Rolle, Enrica, Ricci, Federica, D'Amico, Adele, Catteruccia, Michela, Pini, Antonella, Giannotta, Melania, Battini, Roberta, Marinella, Gemma, Previtali, Stefano C, Zambon, Alberto A, Ferlini, Alessandra, Fortunato, Fernanda, Magri, Francesca, Mongini, Tiziana E, Sansone, Valeria A, Bruno, Claudio, Messina, Sonia, Nigro, Vincenzo, Moroni, Isabella, Mercuri, Eugenio, Bello, Luca, Pegoraro, Elena
Published in Brain (London, England : 1878) (05.11.2024)
Published in Brain (London, England : 1878) (05.11.2024)
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Journal Article
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A, Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda, Ferlini, Alessandra
Published in PloS one (22.11.2023)
Published in PloS one (22.11.2023)
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Journal Article
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, Ferlini, Alessandra
Published in Frontiers in genetics (03.03.2020)
Published in Frontiers in genetics (03.03.2020)
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Journal Article
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases
Farnè, Marianna, Fortunato, Fernanda, Neri, Marcella, Farnè, Matteo, Balla, Cristina, Albamonte, Emilio, Barp, Andrea, Armaroli, Annarita, Perugini, Enrica, Carinci, Valeria, Facchini, Marco, Chiarini, Luca, Sansone, Valeria A., Straudi, Sofia, Tugnoli, Valeria, Sette, Elisabetta, Sensi, Mariachiara, Bertini, Matteo, Evangelista, Teresinha, Ferlini, Alessandra, Gualandi, Francesca
Published in European journal of medical genetics (01.06.2023)
Published in European journal of medical genetics (01.06.2023)
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Journal Article
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project
Ferlini, Alessandra, Gross, Edith Sky, Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A, Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Lysogene, Marie Trad, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, van Olden, Rudolf Walther, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Stefanov, Georgi, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda
Published in Orphanet journal of rare diseases (04.10.2023)
Published in Orphanet journal of rare diseases (04.10.2023)
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Journal Article
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene
Fortunato, Fernanda, Neri, Marcella, Geroldi, Alessandro, Bellone, Emilia, De Grandis, Domenico, Ferlini, Alessandra, Gualandi, Francesca
Published in Clinical neurology and neurosurgery (01.12.2017)
Published in Clinical neurology and neurosurgery (01.12.2017)
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Journal Article
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
Fortunato, Fernanda, Bianchi, Francesca, Ricci, Giulia, Torri, Francesca, Gualandi, Francesca, Neri, Marcella, Farnè, Marianna, Giannini, Fabio, Malandrini, Alessandro, Volpi, Nila, Lopergolo, Diego, Silani, Vincenzo, Ticozzi, Nicola, Verde, Federico, Pareyson, Davide, Fenu, Silvia, Bonanno, Silvia, Nigro, Vincenzo, Peduto, Cristina, D'Ambrosio, Paola, Zeuli, Roberta, Zanobio, Mariateresa, Picillo, Esther, Servidei, Serenella, Primiano, Guido, Sancricca, Cristina, Sciacco, Monica, Brusa, Roberta, Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pegoraro, Elena, Mongini, Tiziana, Solero, Luca, Gadaleta, Giulio, Brusa, Chiara, Minetti, Carlo, Bruno, Claudio, Panicucci, Chiara, Sansone, Valeria A, Lunetta, Christian, Zanolini, Alice, Toscano, Antonio, Pugliese, Alessia, Nicocia, Giulia, Bertini, Enrico, Catteruccia, Michela, Diodato, Daria, Atalaia, Antonio, Evangelista, Teresinha, Siciliano, Gabriele, Ferlini, Alessandra
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
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Journal Article
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture
Pancheri, Elia, Bozzetti, Silvia, Rimessi, Paola, Macchione, Francesco, Barillari, Marco, Venturoli, Anna, Guglielmi, Valeria, Fortunato, Fernanda, Tonin, Paola, Vattemi, Gaetano
Published in Clinical neurology and neurosurgery (01.11.2019)
Published in Clinical neurology and neurosurgery (01.11.2019)
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Journal Article