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Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients

Autor: Brugnoni, Raffaella, Maggi, Lorenzo, Canioni, Eleonora, Verde, Federico, Gallone, Annamaria, Ariatti, Alessandra, Filosto, Massimiliano, Petrelli, Cristina, Logullo, Francesco Ottavio, Esposito, Marcello, Ruggiero, Lucia, Tonin, Paola, Riguzzi, Pietro, Pegoraro, Elena, Torri, Francesca, Ricci, Giulia, Siciliano, Gabriele, Silani, Vincenzo, Merlini, Luciano, De Pasqua, Silvia, Liguori, Rocco, Pini, Antonella, Mariotti, Caterina, Moroni, Isabella, Imbrici, Paola, Desaphy, Jean-Francois, Mantegazza, Renato, Bernasconi, Pia

Publikováno v: In Neuromuscular Disorders April 2021 31(4):336-347

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Autor: Cardone, Nastasia, Moula, Melissa, Baelde, Rianne J., Biquand, Ariane, Villanova, Marcello, Metay, Corinne, Fiorillo, Chiara, Baratto, Serena, Merlini, Luciano, Sabatelli, Patrizia, Romero, Norma B., Relaix, Frederic, Authier, François J. rôme, Taglietti, Valentina, Savarese, Marco, de Winter, Josine, Ottenheijm, Coen, Richard, Isabelle, Malfatti, Edoardo

Publikováno v: Cardone, N, Moula, M, Baelde, R J, Biquand, A, Villanova, M, Metay, C, Fiorillo, C, Baratto, S, Merlini, L, Sabatelli, P, Romero, N B, Relaix, F, Authier, F J R, Taglietti, V, Savarese, M, de Winter, J, Ottenheijm, C, Richard, I & Malfatti, E 2023, ' Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant ', Acta neuropathologica communications, vol. 11, no. 1, 48 . https://doi.org/10.1186/s40478-023-01539-4
Acta neuropathologica communications, 11(1):48. BioMed Central

Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres. In this st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bb29f2f829e26d763c04e33f0694740
https://research.vumc.nl/en/publications/7c543fc4-4d38-4638-a06b-00e05b0009f8

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201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The Netherlands

Autor: Merlini, Luciano, Nishino, Ichizo

Publikováno v: In Neuromuscular Disorders June 2014 24(6):546-561