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Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Autor: Nikolic, Ana, Jones, Takako, Govi, Monica, Mele, Fabiano, Maranda, Louise, Sera, Francesco, Ricci, Giulia, Ruggiero, Lucia, Vercelli, Liliana, Portaro, Simona, Villa, Luisa, Fiorillo, Chiara, Maggi, Lorenzo, Santoro, Lucio, Antonini, Giovanni, Filosto, Massimiliano, Moggio, Maurizio, Angelini, Corrado, Pegoraro, Elena, Berardinelli, Angela, Maioli, Maria Antonetta, D’Angelo, Grazia, Di Muzio, Antonino, Siciliano, Gabriele, Tomelleri, Giuliano, D’Esposito, Maurizio, Della Ragione, Floriana, Brancaccio, Arianna, Piras, Rachele, Rodolico, Carmelo, Mongini, Tiziana, Magdinier, Frédérique, Salsi, Valentina, Jones, Peter, Tupler, Rossella

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2020, 21 (7), pp.2635. ⟨10.3390/ijms21072635⟩
International Journal of Molecular Sciences, Vol 21, Iss 2635, p 2635 (2020)
International Journal of Molecular Sciences, MDPI, 2020, 21 (7), pp.2635. ⟨10.3390/ijms21072635⟩
International journal of molecular sciences (Online) 21 (2020). doi:10.3390/ijms21072635
info:cnr-pdr/source/autori:Nikolic, Ana; Jones, Takako, I; Govi, Monica; Mele, Fabiano; Maranda, Louise; Sera, Francesco; Ricci, Giulia; Ruggiero, Lucia; Vercelli, Liliana; Portaro, Simona; Villa, Luisa; Fiorillo, Chiara; Maggi, Lorenzo; Santoro, Lucio; Antonini, Giovanni; Filosto, Massimiliano; Moggio, Maurizio; Angelini, Corrado; Pegoraro, Elena; Berardinelli, Angela; Maioli, Maria Antonetta; D'Angelo, Grazia; Di Muzio, Antonino; Siciliano, Gabriele; Tomelleri, Giuliano; D'Esposito, Maurizio; Della Ragione, Floriana; Brancaccio, Arianna; Piras, Rachele; Rodolico, Carmelo; Mongini, Tiziana; Magdinier, Frederique; Salsi, Valentina; Jones, Peter L.; Tupler, Rossella/titolo:Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies/doi:10.3390%2Fijms21072635/rivista:International journal of molecular sciences (Online)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:21
Volume 21
Issue 7

International audience; Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d898b0b7ac859b62559bed3b8fc1e465
https://hal-amu.archives-ouvertes.fr/hal-03142878/file/ijms-21-02635.pdf

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Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Autor: Machnicki, Marcin M., Guglielmi, Valeria, Pancheri, Elia, Gualandi, Francesca, Verriello, Lorenzo, Pruszczyk, Katarzyna, Kosinska, Joanna, Sangalli, Antonella, Rydzanicz, Malgorzata, Romanelli, Maria Grazia, Neri, Marcella, Ploski, Rafal, Tonin, Paola, Tomelleri, Giuliano, Stoklosa, Tomasz, Vattemi, Gaetano

Publikováno v: Neurological Sciences; Jul2021, Vol. 42 Issue 7, p2819-2827, 9p, 3 Color Photographs, 1 Chart, 2 Graphs