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Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: fiorillo c. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
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.
Muscle MRI in TRPV4-related congenital distal SMA.
Astrea G, Brisca G, Fiorillo C, Valle M, Tosetti M, Bruno C, Santorelli FM, Battini R. Astrea G, et al. Among authors: fiorillo c. Neurology. 2012 Jan 31;78(5):364-5. doi: 10.1212/WNL.0b013e318245295a. Neurology. 2012. PMID: 22291064 No abstract available.
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C. Fiorillo C, et al. Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25. Neurogenetics. 2012. PMID: 22526352
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, Fiorillo C, Pane M, Berardinelli A, Verardo M, Bragato C, Mora M, Morandi L, Bruno C, Santoro L, Pegoraro E, Mercuri E, Bertini E, D'Amico A. Catteruccia M, et al. Among authors: fiorillo c. Neuromuscul Disord. 2013 Mar;23(3):229-38. doi: 10.1016/j.nmd.2012.12.009. Epub 2013 Feb 8. Neuromuscul Disord. 2013. PMID: 23394783 Free PMC article.
367 results