Inferring disease course from differential exon usage in the wide titinopathy spectrum
Di Feo, Maria Francesca, Oghabian, Ali, Nippala, Ella, Gautel, Mathias, Jungbluth, Heinz, Forzano, Francesca, Malfatti, Edoardo, Castiglioni, Claudia, Krey, Ilona, Gomez Andres, David, Brady, Angela F., Iascone, Maria, Cereda, Anna, Pezzani, Lidia, Natera De Benito, Daniel, Nascimiento Osorio, Andres, Estévez Arias, Berta, Kurbatov, Sergei A., Attie‐Bitach, Tania, Nampoothiri, Sheela, Ryan, Erin, Morrow, Michelle, Gorokhova, Svetlana, Chabrol, Brigitte, Sinisalo, Juha, Tolppanen, Heli, Tolva, Johanna, Munell, Francina, Camacho Soriano, Jessica, Sanchez Duran, Maria Angeles, Johari, Mridul, Tajsharghi, Homa, Hackman, Peter, Udd, Bjarne, Savarese, Marco
Published in Annals of clinical and translational neurology (01.10.2024)
Published in Annals of clinical and translational neurology (01.10.2024)
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Journal Article
What is the clinical significance of the facial-sparing phenotype in facioscapulohumeral muscular dystrophy? A nation-wide cross-sectional study
Ricci, Giulia, Di Feo, Maria Francesca, Sera, Francesco, Bettio, Cinzia, Salsi, Valentina, Ruggiero, Lucia, Tupler, Rossella
Published in Journal of the neurological sciences (01.10.2021)
Published in Journal of the neurological sciences (01.10.2021)
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Journal Article
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
Di Feo, Maria Francesca, Lillback, Victoria, Jokela, Manu, McEntagart, Meriel, Homfray, Tessa, Giorgio, Elisa, Casalis Cavalchini, Guido C, Brusco, Alfredo, Iascone, Maria, Spaccini, Luigina, D'Oria, Patrizia, Savarese, Marco, Udd, Bjarne
Published in Journal of medical genetics (01.09.2023)
Published in Journal of medical genetics (01.09.2023)
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Journal Article
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review
Romano, Ferruccio, Haanpää, Maria K., Pomianowski, Pawel, Peraino, Amanda Rose, Pollard, John R., Di Feo, Maria Francesca, Traverso, Monica, Severino, Mariasavina, Derchi, Maria, Henzen, Edoardo, Zara, Federico, Faravelli, Francesca, Capra, Valeria, Scala, Marcello
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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Journal Article
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach
Di Feo, Maria Francesca, Bettio, Cinzia, Salsi, Valentina, Bertucci, Emma, Tupler, Rossella
Published in Health science reports (01.05.2022)
Published in Health science reports (01.05.2022)
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