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STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39.
Riva B, Pessolano E, Quaglia E, Cordero-Sanchez C, Bhela IP, Topf A, Serafini M, Cox D, Harris E, Garibaldi M, Barresi R, Pirali T, Genazzani AA. Riva B, et al. Among authors: garibaldi m. Cell Calcium. 2022 Jul;105:102605. doi: 10.1016/j.ceca.2022.102605. Epub 2022 May 18. Cell Calcium. 2022. PMID: 35636153 Free article.
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group. Musumeci O, et al. J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11. doi: 10.1136/jnnp-2014-310164. Epub 2015 Mar 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25783438
Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network.
Russo V, Antonini G, Massa R, Casali C, Mauriello A, Martino AM, Marconi R, Garibaldi M, Franciosa P, Zecchin M, Gaudio C, D'Andrea A, Strano S. Russo V, et al. Among authors: garibaldi m. J Cardiovasc Dev Dis. 2024 Feb 16;11(2):63. doi: 10.3390/jcdd11020063. J Cardiovasc Dev Dis. 2024. PMID: 38392277 Free PMC article. Review.
Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.
Muppidi S, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Nowak RJ, Andersen H, Casasnovas C, de Bleecker JL, Vu TH, Mantegazza R, O'Brien FL, Wang JJ, Fujita KP, Howard JF Jr; Regain Study Group. Muppidi S, et al. Muscle Nerve. 2019 Jul;60(1):14-24. doi: 10.1002/mus.26447. Epub 2019 Mar 8. Muscle Nerve. 2019. PMID: 30767274 Free PMC article.
Oxidative Stress in Transthyretin-Mediated Amyloidosis: An Exploratory Study.
Fiore M, Cambieri C, Libonati L, Moret F, D'Andrea E, Di Certo MG, Passananti C, Gabanella F, Corbi N, Garibaldi M, Chimenti C, Alfarano M, Ferraguti G, Francati S, Inghilleri M, Ceccanti M. Fiore M, et al. Among authors: garibaldi m. Antioxidants (Basel). 2024 Aug 18;13(8):998. doi: 10.3390/antiox13080998. Antioxidants (Basel). 2024. PMID: 39199243 Free PMC article.
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.
Cordero-Sanchez C, Riva B, Reano S, Clemente N, Zaggia I, Ruffinatti FA, Potenzieri A, Pirali T, Raffa S, Sangaletti S, Colombo MP, Bertoni A, Garibaldi M, Filigheddu N, Genazzani AA. Cordero-Sanchez C, et al. Among authors: garibaldi m. Dis Model Mech. 2019 Dec 3;13(2):dmm041111. doi: 10.1242/dmm.041111. Dis Model Mech. 2019. PMID: 31666234 Free PMC article.
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone YM, Pugliese A, Primiano G, Sancricca C, Lopergolo D, Greco G, Gemelli C, Ravaglia S, Bencivenga RP, Velardo D, Magri F, Valentino ML, Cheli M, Torchia E, Lucchini M, Petrucci A, Ricci G, Garibaldi M, Astrea G, Rubegni A, Angelini CI, Ariatti A, Santorelli FM, Ruggieri A, Antonini G, Siciliano G, Filosto M, Mirabella M, Liguori R, Comi GP, Ruggiero L, Grandis M, Massa R, Malandrini A, Servidei S, Mongini TE, Rodolico C, Toscano A, Previtali SC, Tonin P, Diaz-Manera J, Monforte M, Ricci E, Maggi L, Tasca G. Bortolani S, et al. Among authors: garibaldi m. Neurology. 2024 Aug 27;103(4):e209697. doi: 10.1212/WNL.0000000000209697. Epub 2024 Aug 5. Neurology. 2024. PMID: 39102614
115 results