Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Autor: Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Giorgio Tasca, Mauro Monforte, Stefania Zampatti, Guido Primiano, Cristina Sancricca, Sara Bortolani, Eleonora Torchia, Beatrice Ravera, Francesca Torri, Giulio Gadaleta, Barbara Risi, Filomena Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, Erica Frezza, Roberto Massa, Carlo Caltagirone, Elena Maria Pennisi, Antonio Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, Marianna Scutifero, Paola Mandich, Marina Grandis, Maria Antonietta Maioli, Carlo Casali, Elisabetta Manfroi, Luisa Politano, Luigia Passamano, Roberta Petillo, Carmelo Rodolico, Alessia Pugliese, Stefano Carlo Previtali, Valeria Sansone, Liliana Vercelli, Tiziana Enrica Mongini, Giulia Ricci, Gabriele Siciliano, Massimiliano Filosto, Enzo Ricci, Raffaella Cascella, Emiliano Giardina, FSHD Italian Clinical Group

Publikováno v: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-13 (2024)

Abstract Background Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus prov

Externí odkaz: https://doaj.org/article/0d15d9c849414d05b47cb23663857b6e

Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients

Autor: Lorena Di Pietro, Flavia Giacalone, Elvira Ragozzino, Valentina Saccone, Federica Tiberio, Marco De Bardi, Mario Picozza, Giovanna Borsellino, Wanda Lattanzi, Enrico Guadagni, Sara Bortolani, Giorgio Tasca, Enzo Ricci, Ornella Parolini

Publikováno v: Cell Death and Disease, Vol 13, Iss 9, Pp 1-13 (2022)

Abstract Muscle-resident non-myogenic mesenchymal cells play key roles that drive successful tissue regeneration within the skeletal muscle stem cell niche. These cells have recently emerged as remarkable therapeutic targets for neuromuscular disorde

Externí odkaz: https://doaj.org/article/f13d6ca451c54f9fa0f9979eb21ed3c4

Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series

Autor: Martina Maceroni, Mauro Monforte, Rossella Cariola, Benedetto Falsini, Stanislao Rizzo, Maria Cristina Savastano, Francesco Martelli, Enzo Ricci, Sara Bortolani, Giorgio Tasca, Angelo Maria Minnella

Publikováno v: Diagnostics, Vol 13, Iss 5, p 982 (2023)

Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy with a wide range of manifestations including retinal vasculopathy. This study aimed to analyse retinal vascular involvement in FSHD patients using fundus photog

Externí odkaz: https://doaj.org/article/67ed81827bf04f08a0cd80dd7a93f03e

Redox Homeostasis in Muscular Dystrophies

Autor: Nicola Mosca, Sara Petrillo, Sara Bortolani, Mauro Monforte, Enzo Ricci, Fiorella Piemonte, Giorgio Tasca

Publikováno v: Cells, Vol 10, Iss 6, p 1364 (2021)

In recent years, growing evidence has suggested a prominent role of oxidative stress in the pathophysiology of several early- and adult-onset muscle disorders, although effective antioxidant treatments are still lacking. Oxidative stress causes cell

Externí odkaz: https://doaj.org/article/3d096f0eaae14d3bbda6d6ffc35ac25b

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey

Autor: Lynda El-Hassar, Ahmed Amara, Benoit Sanson, Oana Lacatus, Ahmed Amir Belhouchet, Madelon Kroneman, Kristl Claeys, Jean Philippe Plançon, Carmelo Rodolico, Guido Primiano, Francesca Trojsi, Massimiliano Filosto, Tiziana Enrica Mongini, Sara Bortolani, Mauro Monforte, Elena Carraro, Lorenzo Maggi, Federica Ricci, Vincenzo Silani, Daniele Orsucci, Alain Créange, Yann Péréon, Tanya Stojkovic, Nadine Anna Maria Elisabeth van der Beek, Antonio Toscano, Davide Pareyson, Shahram Attarian, Peter Y.K. Van den Bergh, Gauthier Remiche, Janneke G.J. Hoeijmakers, Umesh Badrising, Nicol C. Voermans, Angela M. Kaindl, Ulrike Schara-Schmidt, Benedikt Schoser, Elisabetta Gazzerro, Jana Haberlová, Stanislav Voháňka, Endre Pál, Maria Judit Molnar, Lea Leonardis, Ivailo L Tournev, Andrés Nascimento Osorio, Montse Olivé, Nuria Muelas, Jorge Alonso-Perez, Francesc Plá, Marianne de Visser, Gabriele Siciliano, Sabrina Sacconi

Publikováno v: Journal of Neuromuscular Diseases, 10, 2, pp. 173-184
Journal of neuromuscular diseases, 10(2), 173-184. IOS Press
Journal of neuromuscular diseases, 10(2), 173-184. I O S Press
Journal of Neuromuscular Diseases, 10, 173-184
Journal of Neuromuscular Diseases, 10(2), 173-184. IOS Press BV

BACKGROUND: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients' homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating subtle neurol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bab9186b51dc90db45ba25d891036f79
https://pubmed.ncbi.nlm.nih.gov/36373291