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The European Journal of Neuroscience|June 6, 2022
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathyGaetano Nicola Alfio Vattemi, Daniela Rossi, Lucia Galli, et al.
Communications Biology|May 18, 2019
Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolismJordan Blondelle, Valeria Marrocco, Madison Clark, et al.
Heart Rhythm|August 23, 2019
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmiaDaniela Rossi, Lorenzo Gigli, Alessandra Gamberucci, et al.
International Journal of Molecular Sciences|February 15, 2022
Impaired Intracellular Ca2+ Dynamics, M-Band and Sarcomere Fragility in Skeletal Muscles of Obscurin KO MiceEnrico Pierantozzi, Péter Szentesi, Cecilia Paolini, et al.
Human Mutation|August 14, 2014
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregatesDaniela Rossi, Bianca Vezzani, Lucia Galli, et al.
Human Mutation|September 13, 2017
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathyVirginia Barone, Valeria Del Re, Alessandra Gamberucci, et al.
Plos One|October 27, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophyDaniela Rossi, Johanna Palmio, Anni Evilä, et al.
The Journal of General Physiology|May 14, 2025
Obscurin deficiency leads to compensated dilated cardiomyopathy and increased arrhythmiasJosè Manuel Pioner, Enrico Pierantozzi, Raffaele Coppini, et al.
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