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

Tauroursodeoxycholic acid in patients with amyotrophic lateral sclerosis: The TUDCA-ALS trial protocol

Autor: Alberto Albanese, Albert Christian Ludolph, Christopher J. McDermott, Philippe Corcia, Philip Van Damme, Leonard H. Van den Berg, Orla Hardiman, Gilberto Rinaldi, Nicola Vanacore, Brian Dickie, TUDCA-ALS Study Group, Paolo Tornese, Antoniangela Cocco, Maria Lo Giudice, Michela Matteoli, Eliana Lauranzano, Maria Luisa Malosio, Chiara Adriana Elia, Flavia Lombardo, Flavia Mayer, Maria Puopolo, Stefania Spila Alegiani, Adriano Chiò, Umberto Manera, Cristina Moglia, Andrea Calvo, Paolina Salamone, Giuseppe Fuda, Carlo Colosimo, Cristina Spera, Prabha Cristina Ranchicchio, Giuseppe Stipa, Domenico Frondizi, Christian Lunetta, Valeria Sansone, Claudia Tarlarini, Francesca Gerardi, Vincenzo Silani, Alberto Doretti, Eleonora Colombo, Gianluca Demirtzidis, Gioacchino Tedeschi, Francesca Trojsi, Carla Passaniti, Stefania Ballestrero, Johannes Dorst, Ulrike Weiland, Andrea Fromm, Maximilian Wiesenfarth, Katharina Kandler, Simon Witzel, Markus Otto, Joachim Schuster, Thomas Meyer, André Maier, Dagmar Kettemann, Susanne Petri, Lars Müschen, Camilla Wohnrade, Anastasia Sarikidi, Alma Osmanovic, Julian Grosskreutz, Annekathrin Rödiger, Robert Steinbach, Benjamin Ilse, Uta Smesny, Robert Untucht, René Günther, Maximilian Vidovic, Pamela Shaw, Alexis Collins, Helen Wollff, Theresa Walsh, Lee Tuddenham, Mbombe Kazoka, David White, Stacy Young, Benjamin Thompson, Daniel Madarshahian, Suresh K. Chhetri, Amina Chaouch, Carolyn A. Young, Heike Arndt, Oliver C Hanemann, Thomas Lambert, Stephane Beltran, Philippe Couratier, Florence Esselin, William Camu, Elisa De, La Cruz, Gwendal Lemasson, Pegah Masrori, Sinead Maguire, Liz Fogarty, Toyosi Atoyebi, Niamh Ní Obáin

Publikováno v: Frontiers in Neurology, Vol 13 (2022)

BackgroundAmyotrophic lateral sclerosis (ALS) is a chronic neurodegenerative rare disease that affects motor neurons in the brain, brainstem, and spinal cord, resulting in progressive weakness and atrophy of voluntary skeletal muscles. Although much

Externí odkaz: https://doaj.org/article/499f4c22c4474ff6bbb12e36ba086577

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort

Autor: Stefania Scarlino, Teuta Domi, Laura Pozzi, Alessandro Romano, Giovanni Battista Pipitone, Yuri Matteo Falzone, Lorena Mosca, Silvana Penco, Christian Lunetta, Valeria Sansone, Lucio Tremolizzo, Raffaella Fazio, Federica Agosta, Massimo Filippi, Paola Carrera, Nilo Riva, Angelo Quattrini

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 9, p 3346 (2020)

Although the genetic architecture of amyotrophic lateral sclerosis (ALS) is incompletely understood, recent findings suggest a complex model of inheritance in ALS, which is consistent with a multistep pathogenetic process. Therefore, the aim of our w

Externí odkaz: https://doaj.org/article/08daead3fd0e46f4ad1b53e9526f06ae

Circulating Irisin Is Reduced in Male Patients with Type 1 and Type 2 Myotonic Dystrophies

Autor: Elena Dozio, Elena Passeri, Rosanna Cardani, Stefano Benedini, Carmen Aresta, Rea Valaperta, Massimiliano Corsi Romanelli, Giovanni Meola, Valeria Sansone, Sabrina Corbetta

Publikováno v: Frontiers in Endocrinology, Vol 8 (2017)

ContextMyotonic dystrophies (DM) are dominantly inherited muscle disorders characterized by myotonia, muscle weakness, and wasting. The reasons for sarcopenia in DMs are uncleared and multiple factors are involved. Irisin, a positive hormone regulato

Externí odkaz: https://doaj.org/article/03237d7a097f4be79a410a3596b10a92

Meeting report: The 2022 FSHD International Research Congress

Autor: Doris G. Leung, June Kinoshita, Jamshid Arjomand, Julie Dumonceaux, Russell J Butterfield, Amy E. Campbell, Yi-Wen Chen, Frederique Magdinier, Valeria Sansone, Giorgio Tasca, Yegor Vassetzky, Lindsay M. Wallace

Publikováno v: The 2022 FSHD International Research Congress
The 2022 FSHD International Research Congress, Jun 2022, ORLANDO, Florida, United States. pp.196-198, ⟨10.1016/j.nmd.2022.12.005⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fea84b21e02b8e7d9a22388fad6248e
https://doi.org/10.1016/j.nmd.2022.12.005