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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M. Traverso M, et al. Among authors: zara f. Eur J Hum Genet. 2024 Mar;32(3):342-349. doi: 10.1038/s41431-023-01516-4. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177406
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment.
Assereto S, Stringara S, Sotgia F, Bonuccelli G, Broccolini A, Pedemonte M, Traverso M, Biancheri R, Zara F, Bruno C, Lisanti MP, Minetti C. Assereto S, et al. Among authors: zara f. Am J Physiol Cell Physiol. 2006 Feb;290(2):C577-82. doi: 10.1152/ajpcell.00434.2005. Epub 2005 Sep 28. Am J Physiol Cell Physiol. 2006. PMID: 16192300 Free article.
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. Bruno C, et al. Among authors: zara f. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513
Inherited neuromyotonia: a clinical and genetic study of a family.
Falace A, Striano P, Manganelli F, Coppola A, Striano S, Minetti C, Zara F. Falace A, et al. Among authors: zara f. Neuromuscul Disord. 2007 Jan;17(1):23-7. doi: 10.1016/j.nmd.2006.09.014. Epub 2006 Nov 30. Neuromuscul Disord. 2007. PMID: 17140792
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Among authors: zara f. Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. doi: 10.1016/j.bbrc.2007.09.066. Epub 2007 Sep 25. Biochem Biophys Res Commun. 2007. PMID: 17923109
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, Giberti L, Pedemonte M, Wang X, Scapolan S, Pasquini E, Donati MA, Zara F, Lisanti MP, Bruno C, Minetti C. Traverso M, et al. Among authors: zara f. Lab Invest. 2008 Mar;88(3):275-83. doi: 10.1038/labinvest.3700713. Epub 2008 Feb 4. Lab Invest. 2008. PMID: 18253147 Free article.
510 results