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Titolo Data di pubblicazione Autore(i) File Abstract
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy 1-gen-2017 Rossi, Daniela; Palmio, Johanna; Evilã¤, Anni; Galli, Lucia; Barone, Virginia; Caldwell, Tracy A.; Policke, Rachel A.; Aldkheil, Esraa; Berndsen, Christopher E.; Wright, Nathan T.; Malfatti, Edoardo; Brochier, Guy; Pierantozzi, Enrico; Jordanova, Albena; Guergueltcheva, Velina; Romero, Norma Beatriz; Hackman, Peter; Eymard, Bruno; Udd, Bjarne; Sorrentino, Vincenzo -
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy 1-gen-2017 Barone, Virginia; DEL RE, Valeria; Gamberucci, Alessandra; Polverino, Valentina; Galli, Lucia; Rossi, Daniela; Costanzi, Elisa; Toniolo, Luana; Berti, Gianna; Malandrini, Alessandro; Ricci, Giulia; Siciliano, Gabriele; Vattemi, Gaetano; Tomelleri, Giuliano; Pierantozzi, Enrico; Spinozzi, Simone; Volpi, Nila; Fulceri, Rosella; Battistutta, Roberto; Reggiani, Carlo; Sorrentino, Vincenzo -
Exercise-induced alterations and loss of sarcomeric M-line organization in the diaphragm muscle of obscurin knockout mice 1-gen-2017 Randazzo, Davide; Blaauw, Bert; Paolini, Cecilia; Pierantozzi, Enrico; Spinozzi, Simone; Lange, Stephan; Chen, Ju; Protasi, Feliciano; Reggiani, Carlo; Sorrentino, Vincenzo -
Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy 1-gen-2017 Africa, Liana; Margollicci, Maria; Salvatore, Simona; Shalbafan, Bita; Peruzzi, Luana; Togha, Mansoureh; Sorrentino, Vincenzo; Federico, Antonio -
Tissue-Specific Cultured Human Pericytes: Perivascular Cells from Smooth Muscle Tissue Have Restricted Mesodermal Differentiation Ability 1-gen-2016 Pierantozzi, Enrico; Vezzani, Bianca; Badin, Margherita; Curina, Carlo; Severi, Filiberto Maria; Petraglia, Felice; Randazzo, Davide; Rossi, Daniela; Sorrentino, Vincenzo -
Not all pericytes are born equal: Pericytes from human adult tissues present different differentiation properties 1-gen-2016 Vezzani, Bianca; Pierantozzi, Enrico; Sorrentino, Vincenzo -
A novel type 2 diabetes risk allele increases the promoter activity of the muscle-specific small ankyrin 1 gene 1-gen-2016 Yan, Rengna; Lai, Shanshan; Yang, Yang; Shi, Hongfei; Cai, Zhenming; Sorrentino, Vincenzo; Du, Hong; Chen, Huimei -
A quantitative assessment of circulating progenitor cells in competitive athletes and in sedentary subjects 1-gen-2015 D'Ascenzi, F.; Zacà, V.; Maiorca, S.; Neri, A.; Aldinucci, C.; Sorrentino, V.; Causarano, A.; Bonifazi, M.; Mondillo, S. -
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility 1-gen-2015 Hopkins, P. M.; Rüffert, H.; Snoeck, M. M.; Girard, T.; Glahn, K. P. E.; Ellis, F. R.; Müller, C. R.; Urwyler, A.; Bandschapp, O.; Gillies, R.; Glauber, V.; Heytens, L.; Islander, G.; Klingler, W.; Kraft, B.; Krivosic-Horber, R.; Pollock, N.; Schuster, F.; Silva, H.; Sorrentino, V.; Street, N.; Tegazzin, V.; Tzanova, I. -
Deletion of small ankyrin 1 (sAnk1) isoforms results in structural and functional alterations in aging skeletal muscle fibers 1-gen-2015 Giacomello, Emiliana; Quarta, M.; Paolini, C.; Squecco, R.; Fusco, P.; Toniolo, L.; Blaauw, B.; Formoso, Luca; Rossi, Daniela; Birkenmeier, C.; Peters, L. L.; Francini, F.; Protasi, F.; Reggiani, C.; Sorrentino, Vincenzo -
Organization of junctional sarcoplasmic reticulum proteins in skeletal muscle fibers 1-gen-2015 Barone, Virginia; Randazzo, Davide; DEL RE, Valeria; Sorrentino, Vincenzo; Rossi, Daniela -
Ryanodine receptors are targeted by anti-apoptotic Bcl-XL involving its BH4 domain and Lys87 from its BH3 domain 1-gen-2015 Vervliet, Tim; Lemmens, Irma; Vandermarliere, Elien; Decrock, Elke; Ivanova, Hristina; Monaco, Giovanni; Sorrentino, Vincenzo; Nadif Kasri, Nael; Missiaen, Ludwig; Martens, Lennart; De Smedt, Humbert; Leybaert, Luc; Parys, Jan B.; Tavernier, Jan; Bultynck, Geert -
Human pericytes isolated from adipose tissue have better differentiation abilities than their mesenchymal stem cell counterparts 1-gen-2015 Pierantozzi, E.; Badin, M.; Vezzani, B.; Curina, C.; Randazzo, D.; Petraglia, F.; Rossi, D.; Sorrentino, V. -
The KSR2-calcineurin complex regulates STIM1-ORAI1 dynamics and Store-Operated Calcium Entry (SOCE) 1-gen-2014 Giurisato, E.; Gamberucci, A.; Ulivieri, C.; Marruganti, S.; Rossi, E.; Giacomello, E.; Randazzo, D.; Sorrentino, V. -
Yip1B isoform is localized at ER-Golgi intermediate and cis-Golgi compartments and is not required for maintenance of the Golgi structure in skeletal muscle 1-gen-2014 Barone, V.; Mazzoli, E.; Kunic, J.; Rossi, D.; Tronnolone, S.; Sorrentino, V. -
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates 1-gen-2014 Rossi, D.; Vezzani, B.; Galli, L.; Paolini, C.; Toniolo, L.; Pierantozzi, E.; Spinozzi, S.; Barone, V.; Pegoraro, E.; Bello, L.; Cenacchi, G.; Vattemi, G.; Tomelleri, G.; Ricci, G.; Siciliano, G.; Protasi, F.; Reggiani, C.; Sorrentino, V. -
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study 1-gen-2014 Klingler, W.; Heiderich, S.; Girard, T.; Gravino, E.; Heffron, J. I.; Johannsen, S.; Jurkat-Rott, K.; Rüffert, H.; Schuster, F.; Snoeck, M.; Sorrentino, V.; Tegazzin, V.; Lehmann-Horn, F. -
Bcl-2 binds to and inhibits ryanodine receptors 1-gen-2014 Vervliet, Tim; Decrock, Elke; Molgó, Jordi; Sorrentino, Vincenzo; Missiaen, Ludwig; Leybaert, Luc; De Smedt, Humbert; Kasri, Nael Nadif; Parys, Jan B; Bultynck, Geert -
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. -
A proteolytic cleavage to separate the sarcolemma/T-tubule from the sarcoplasmic reticulum 1-gen-2013 Sorrentino, V. -
Mostrati risultati da 21 a 40 di 198
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