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The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF. Altamura C, et al. Among authors: ulzi g. Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29935101 Free article.
Glycogen storage disease type III: A novel Agl knockout mouse model.
Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, Nizzardo M, Gatti S, Corti S, Moggio M, Bresolin N, Comi GP. Pagliarani S, et al. Among authors: ulzi g. Biochim Biophys Acta. 2014 Nov;1842(11):2318-28. doi: 10.1016/j.bbadis.2014.07.029. Epub 2014 Aug 1. Biochim Biophys Acta. 2014. PMID: 25092169 Free article.
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.
Pagliarani S, Lucchiari S, Ulzi G, Ripolone M, Violano R, Fortunato F, Bordoni A, Corti S, Moggio M, Bresolin N, Comi GP. Pagliarani S, et al. Among authors: ulzi g. Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3407-3417. doi: 10.1016/j.bbadis.2018.07.031. Epub 2018 Aug 1. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30076962 Free PMC article.