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Page 1
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. Among authors: fiorillo c. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
Early onset calpainopathy with normal non-functional calpain 3 level.
Lanzillo R, Aurino S, Fanin M, Aguennoz M, Vitale F, Fiorillo C, Del Giudice E, Nigro V, Santoro L. Lanzillo R, et al. Among authors: fiorillo c. Dev Med Child Neurol. 2006 Apr;48(4):304-6. doi: 10.1017/S001216220600065X. Dev Med Child Neurol. 2006. PMID: 16542520 Free article.
Early detection of biventricular involvement in myotonic dystrophy by tissue Doppler.
Parisi M, Galderisi M, Sidiropulos M, Fiorillo C, Lanzillo R, D'Errico A, Grieco M, Innelli P, Santoro L, de Divitiis O. Parisi M, et al. Among authors: fiorillo c. Int J Cardiol. 2007 May 31;118(2):227-32. doi: 10.1016/j.ijcard.2006.06.056. Epub 2006 Oct 12. Int J Cardiol. 2007. PMID: 17045670 Clinical Trial.
A refined diagnostic algorithm for Bethlem myopathy.
Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. Hicks D, et al. Among authors: fiorillo c. Neurology. 2008 Apr 1;70(14):1192-9. doi: 10.1212/01.wnl.0000307749.66438.6d. Neurology. 2008. PMID: 18378883 Clinical Trial.
Perioral skin biopsy to study skeletal muscle protein expression.
Santoro L, Nolano M, Faraso S, Fiorillo C, Vitiello C, Provitera V, Aurino S, Nigro V. Santoro L, et al. Among authors: fiorillo c. Muscle Nerve. 2010 Mar;41(3):392-8. doi: 10.1002/mus.21506. Muscle Nerve. 2010. PMID: 20162678
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.
Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R. Lamperti C, et al. Among authors: fiorillo c. Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671. Muscle Nerve. 2010. PMID: 20544930
367 results