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Page 1
Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis.
Abbonante V, Malara A, Chrisam M, Metti S, Soprano P, Semplicini C, Bello L, Bozzi V, Battiston M, Pecci A, Pegoraro E, De Marco L, Braghetta P, Bonaldo P, Balduini A. Abbonante V, et al. Among authors: semplicini c. Autophagy. 2023 Mar;19(3):984-999. doi: 10.1080/15548627.2022.2100105. Epub 2022 Jul 20. Autophagy. 2023. PMID: 35857791 Free PMC article.
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT.
Amato AA, Hanna MG, Machado PM, Badrising UA, Chinoy H, Benveniste O, Karanam AK, Wu M, Tankó LB, Schubert-Tennigkeit AA, Papanicolaou DA, Lloyd TE, Needham M, Liang C, Reardon KA, de Visser M, Ascherman DP, Barohn RJ, Dimachkie MM, Miller JAL, Kissel JT, Oskarsson B, Joyce NC, Van den Bergh P, Baets J, De Bleecker JL, Karam C, David WS, Mirabella M, Nations SP, Jung HH, Pegoraro E, Maggi L, Rodolico C, Filosto M, Shaibani AI, Sivakumar K, Goyal NA, Mori-Yoshimura M, Yamashita S, Suzuki N, Aoki M, Katsuno M, Morihata H, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Zhang Auberson L; RESILIENT Study Extension Group. Amato AA, et al. Neurology. 2021 Mar 23;96(12):e1595-e1607. doi: 10.1212/WNL.0000000000011626. Epub 2021 Feb 17. Neurology. 2021. PMID: 33597289 Free PMC article. Clinical Trial.
Enzyme replacement therapy for Pompe disease.
Angelini C, Semplicini C. Angelini C, et al. Among authors: semplicini c. Curr Neurol Neurosci Rep. 2012 Feb;12(1):70-5. doi: 10.1007/s11910-011-0236-5. Curr Neurol Neurosci Rep. 2012. PMID: 22002767 Review.
The clinical spectrum of CASQ1-related myopathy.
Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E. Semplicini C, et al. Neurology. 2018 Oct 23;91(17):e1629-e1641. doi: 10.1212/WNL.0000000000006387. Epub 2018 Sep 26. Neurology. 2018. PMID: 30258016 Free PMC article.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: semplicini c. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
Metabolic myopathies: the challenge of new treatments.
Angelini C, Semplicini C. Angelini C, et al. Among authors: semplicini c. Curr Opin Pharmacol. 2010 Jun;10(3):338-45. doi: 10.1016/j.coph.2010.02.006. Epub 2010 Mar 29. Curr Opin Pharmacol. 2010. PMID: 20356791 Review.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
De Filippi P, Errichiello E, Toscano A, Mongini T, Moggio M, Ravaglia S, Filosto M, Servidei S, Musumeci O, Giannini F, Piperno A, Siciliano G, Ricci G, Di Muzio A, Rigoldi M, Tonin P, Croce MG, Pegoraro E, Politano L, Maggi L, Telese R, Lerario A, Sancricca C, Vercelli L, Semplicini C, Pasanisi B, Bembi B, Dardis A, Palmieri I, Cereda C, Valente EM, Danesino C. De Filippi P, et al. Among authors: semplicini c. Curr Issues Mol Biol. 2023 Apr 1;45(4):2847-2860. doi: 10.3390/cimb45040186. Curr Issues Mol Biol. 2023. PMID: 37185710 Free PMC article.
Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs.
Magliano L, Scutifero M, Patalano M, Sagliocchi A, Zaccaro A, Civati F, Brighina E, Vita G, Messina S, Sframeli M, Lombardo ME, Scalise R, Colia G, Catteruccia M, Berardinelli A, Motta MC, Gaiani A, Semplicini C, Bello L, Astrea G, Ricci G, D'Angelo MG, Vita G, Pane M, D'Amico A, Balottin U, Angelini C, Battini R, Politano L. Magliano L, et al. Among authors: semplicini c. Acta Myol. 2017 Jun;36(2):41-45. Acta Myol. 2017. PMID: 28781515 Free PMC article. Review.
Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.
Gregorio I, Mereu M, Contarini G, Bello L, Semplicini C, Burgio F, Russo L, Sut S, Dall'Acqua S, Braghetta P, Semenza C, Pegoraro E, Papaleo F, Bonaldo P, Cescon M. Gregorio I, et al. Among authors: semplicini c. Dis Model Mech. 2022 Sep 1;15(9):dmm049481. doi: 10.1242/dmm.049481. Epub 2022 Sep 21. Dis Model Mech. 2022. PMID: 35946603 Free PMC article.
54 results