Zobrazeno 1 - 10
of 186
pro vyhledávání: '"Roberto Massa"'
Autor:
Illari Salvatori, Valentina Nesci, Alida Spalloni, Veronica Marabitti, Maurizio Muzzi, Henri Zenuni, Silvia Scaricamazza, Marco Rosina, Gianmarco Fenili, Mariangela Goglia, Laura Boffa, Roberto Massa, Sandra Moreno, Nicola Biagio Mercuri, Francesca Nazio, Patrizia Longone, Alberto Ferri, Cristiana Valle
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 6, p 3251 (2024)
Amyotrophic Lateral Sclerosis (ALS) is considered the prototype of motor neuron disease, characterized by motor neuron loss and muscle waste. A well-established pathogenic hallmark of ALS is mitochondrial failure, leading to bioenergetic deficits. So
Externí odkaz:
https://doaj.org/article/0f689b9b5fad4ddcbc4869bc4873aaeb
Autor:
Vincenzo Russo, Giovanni Antonini, Roberto Massa, Carlo Casali, Alfredo Mauriello, Anna Maria Martino, Roberto Marconi, Matteo Garibaldi, Pasquale Franciosa, Massimo Zecchin, Carlo Gaudio, Antonello D’Andrea, Stefano Strano
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 2, p 63 (2024)
Myotonic dystrophy is a hereditary disorder with systemic involvement. The Italian Neuro-Cardiology Network-“Rete delle Neurocardiologie” (INCN-RNC) is a unique collaborative experience involving neurology units combined with cardio-arrhythmology
Externí odkaz:
https://doaj.org/article/add6358ab6914d319127cc6ca2e48918
Autor:
Massimiliano Alfano, Luca De Antoni, Federica Centofanti, Virginia Veronica Visconti, Simone Maestri, Chiara Degli Esposti, Roberto Massa, Maria Rosaria D'Apice, Giuseppe Novelli, Massimo Delledonne, Annalisa Botta, Marzia Rossato
Publikováno v:
eLife, Vol 11 (2022)
Myotonic dystrophy type 2 (DM2) is caused by CCTG repeat expansions in the CNBP gene, comprising 75 to >11,000 units and featuring extensive mosaicism, making it challenging to sequence fully expanded alleles. To overcome these limitations, we used P
Externí odkaz:
https://doaj.org/article/ec20646ddd49404e96422df4ccaa723e
Autor:
Virginia Veronica Visconti, Elisa Macrì, Maria Rosaria D’Apice, Federica Centofanti, Roberto Massa, Giuseppe Novelli, Annalisa Botta
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 12, p 10129 (2023)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease caused by a CTG repeat expansion in the 3′-untranslated region (UTR) of DMPK gene. DM1 alleles containing non-CTG variant repeats (VRs) have been described, with uncerta
Externí odkaz:
https://doaj.org/article/be2f126f279a43df9f4b1a8ca3c6035d
Autor:
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Filosto, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Publikováno v:
Genes, Vol 14, Iss 2, p 298 (2023)
Thanks to advances in gene sequencing, RYR1-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to develop a novel unsupervised cluster
Externí odkaz:
https://doaj.org/article/b4f2f850a61d49bc9c32c6e9bfafa15d
Autor:
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E. Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M. Santorelli, Roberta Battini
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 14567 (2022)
Objective: To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected neuromuscular disease and to propose a diagnostic flowchart to assess the real pathogenici
Externí odkaz:
https://doaj.org/article/bf9712b347b74909bee43fa5ac8dc555
Autor:
Annalisa Botta, Virginia Veronica Visconti, Luana Fontana, Paola Bisceglia, Mario Bengala, Roberto Massa, Ilaria Bagni, Rosanna Cardani, Federica Sangiuolo, Giovanni Meola, Giovanni Antonini, Antonio Petrucci, Elena Pegoraro, Maria Rosaria D’Apice, Giuseppe Novelli
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n in intron 1 of the CNBP gene. The CCTG repeat tract is part of a complex (TG)v(TCTG)w(CCTG)x(NCTG)y(CCTG)z motif generally interrupted in CNBP healthy range alleles. Here
Externí odkaz:
https://doaj.org/article/325488be5a6d4db4b095871af31ea877
Autor:
Federica Montagnese, Emanuele Rastelli, Nina Khizanishvili, Roberto Massa, Kristina Stahl, Benedikt Schoser
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Introduction: Myotonic dystrophy type 2 (DM2) lacks disease-specific, validated, motor outcome measures (OMs), and patients' reported outcomes (PROs). This represents a limit for the monitoring of disease progression and treatment response. Our aim w
Externí odkaz:
https://doaj.org/article/72f401f9033d4f0990d3718b800b0af0
Autor:
Marco Luigetti, Valeria Guglielmino, Giovanni Antonini, Carlo Casali, Marco Ceccanti, Maria Grazia Chiappini, Laura De Giglio, Vincenzo Di Lazzaro, Antonio Di Muzio, Mariangela Goglia, Maurizio Inghilleri, Luca Leonardi, Roberto Massa, Elena Maria Pennisi, Antonio Petrucci, Emanuela Proietti, Marianna Rispoli, Mario Sabatelli, Marco Di Girolamo
Publikováno v:
Genes, Vol 12, Iss 6, p 829 (2021)
Hereditary transthyretin amyloidosis (ATTRv, v for variant) prevalence in Italy, a non-endemic region, has been established by ATTRv amyloidosis Italian Registry. However, values of prevalence were extremely heterogeneous, considering different regio
Externí odkaz:
https://doaj.org/article/6322c8731e9d456fb59de4a55f6f2df2
Autor:
Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini, The Italian NLSD Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
Abstract Background A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known a
Externí odkaz:
https://doaj.org/article/98154eee26d648eab05a3ab6d53ffe85