LORENZINI, STEFANIA

LORENZINI, STEFANIA  

Dipartimento di Medicina Molecolare e dello Sviluppo  

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Titolo Data di pubblicazione Autore(i) File Abstract
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia 1-gen-2020 Rossi, D.; Gigli, L.; Gamberucci, A.; Bordoni, R.; Pietrelli, A.; Lorenzini, S.; Pierantozzi, E.; Peretto, G.; De Bellis, G.; Della Bella, P.; Ferrari, M.; Sorrentino, V.; Benedetti, S.; Sala, S.; Di Resta, C. -
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres 1-gen-2007 Rossi, D.; Smet, P. D.; Lyfenko, A.; Galli, L.; Lorenzini, S.; Franci, D.; Petrioli, F.; Orrico, C.; Angelini, C.; Tegazzin, V.; Dirksen, R.; Sorrentino, V. -
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q) 1-gen-2005 Orrico, A.; Galli, L.; Buoni, S.; Hayek, G.; Luchetti, A.; Lorenzini, S.; Zappella, M.; Pomponi, M. G.; Sorrentino, V. -
Diagnosis of calcium pyrophosphate dihydrate crystal deposition disease: ultrasonographic criteria proposed. 1-gen-2005 Frediani, B; Filippou, G; Falsetti, P; Lorenzini, Stefania; Baldi, F; Acciai, C; Siagkri, C; Marotto, D; Galeazzi, M; Marcolongo, R. -
Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulum 1-gen-2014 Rossi, D.; Bencini, C.; Maritati, M.; Benini, F.; Lorenzini, S.; Pierantozzi, E.; Scarcella, A. M.; Paolini, C.; Protasi, F.; Sorrentino, V. -
Expression of macrophage migration inhibitory factor in diffuse systemic sclerosis 1-gen-2003 Selvi, E.; Tripodi, S. A.; Catenaccio, M.; Lorenzini, S.; Chindamo, D.; Manganelli, S.; Romagnoli, Roberta; Ietta, Francesca; Ricci, Luana; Miracco, Clelia; Cintorino, Marcella; Marcolongo, R. -
Molecular determinants of homo- and heteromeric interactions of Junctophilin-1 at triads in adult skeletal muscle fibers 1-gen-2019 Rossi, Daniela; Scarcella, Angela Maria; Liguori, Enea; Lorenzini, Stefania; Pierantozzi, Enrico; Kutchukian, Candice; Jacquemond, Vincent; Messa, Mirko; De Camilli, Pietro; Sorrentino, Vincenzo -
Multiple regions within junctin drive its interaction with calsequestrin-1 and its localization to triads in skeletal muscle 1-gen-2022 Rossi, Daniela; Lorenzini, Stefania; Pierantozzi, Enrico; Van Petegem, Filip; Osamwonuyi Amadsun, David; Sorrentino, Vincenzo -
Negative chronotropism, positive inotropism and lusitropism of 3,5-di-t-butyl-4-hydroxyanisole (DTBHA) on rat heart preparations occur through reduction of RyR2 Ca2+ leak 1-gen-2018 Pessina, Federica; Gamberucci, Alessandra; Chen, Jialin; Liu, Boyin; Vangheluwe, Peter; Gorelli, Beatrice; Lorenzini, Stefania; Spiga, Ottavia; Trezza, Alfonso; Sgaragli, Giampietro; Saponara, Simona -
Obscurin is required for ankyrinB-dependent dystrophin localization and sarcolemma integrity 1-gen-2013 Randazzo, D.; Giacomello, E.; Lorenzini, S.; Rossi, D.; Pierantozzi, E.; Blaauw, B.; Reggiani, C.; Lange, S.; Peter, A. K.; Chen, J.; Sorrentino, V. -
The dissolution of mono-sodium urate monohydrate crystals: formulation of a biocompatible buffer solution with potential use in the treatment of gouty arthropaties 1-gen-2013 Tamasi, G .; Cini, R.; Gregorkiewitz, M.; Lorenzini, S.; Marcolongo, R.; Cavallo, G. -