Fiorillo C - Search Results

1

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.

Assereto S, Piccirillo R, Baratto S, Scudieri P, Fiorillo C, Massacesi M, Traverso M, Galietta LJ, Bruno C, Minetti C, Zara F, Gazzerro E. Assereto S, et al. Among authors: fiorillo c. Lab Invest. 2016 Aug;96(8):862-71. doi: 10.1038/labinvest.2016.63. Epub 2016 Jun 13. Lab Invest. 2016. PMID: 27295345 Free article.

2

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

Anichini A, Fanin M, Vianey-Saban C, Cassandrini D, Fiorillo C, Bruno C, Angelini C. Anichini A, et al. Among authors: fiorillo c. Neurol Res. 2011 Jan;33(1):24-32. doi: 10.1179/016164110X12767786356390. Epub 2010 Aug 31. Neurol Res. 2011. PMID: 20810031

3

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.

Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM. Bruno C, et al. Among authors: fiorillo c. Biochem Biophys Res Commun. 2011 Sep 9;412(4):518-21. doi: 10.1016/j.bbrc.2011.06.155. Epub 2011 Jun 29. Biochem Biophys Res Commun. 2011. PMID: 21741368

4

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C, Cassanello M, Donati MA, Siciliano G, D'Amico A, Lilliu F, Bruno C, Angelini C. Fanin M, et al. Among authors: fiorillo c. Clin Genet. 2012 Sep;82(3):232-9. doi: 10.1111/j.1399-0004.2011.01786.x. Epub 2011 Oct 12. Clin Genet. 2012. PMID: 21913903

5

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C. Fiorillo C, et al. Biochem Biophys Res Commun. 2013 Jan 4;430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9. Biochem Biophys Res Commun. 2013. PMID: 23146629

6

Neuromuscular disorders in zebrafish: state of the art and future perspectives.

Pappalardo A, Pitto L, Fiorillo C, Alice Donati M, Bruno C, Santorelli FM. Pappalardo A, et al. Among authors: fiorillo c. Neuromolecular Med. 2013 Jun;15(2):405-19. doi: 10.1007/s12017-013-8228-z. Epub 2013 Apr 13. Neuromolecular Med. 2013. PMID: 23584918 Review.

7

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

Fiorillo C, Moro F, Yi J, Weil S, Brisca G, Astrea G, Severino M, Romano A, Battini R, Rossi A, Minetti C, Bruno C, Santorelli FM, Vallee R. Fiorillo C, et al. Hum Mutat. 2014 Mar;35(3):298-302. doi: 10.1002/humu.22491. Epub 2014 Jan 3. Hum Mutat. 2014. PMID: 24307404 Free PMC article.

8

Vaccination recommendations for patients with neuromuscular disease.

Esposito S, Bruno C, Berardinelli A, Filosto M, Mongini T, Morandi L, Musumeci O, Pegoraro E, Siciliano G, Tonin P, Marrosu G, Minetti C, Servida M, Fiorillo C, Conforti G, Scapolan S, Ansaldi F, Vianello A, Castaldi S, Principi N, Toscano A, Moggio M. Esposito S, et al. Among authors: fiorillo c. Vaccine. 2014 Oct 14;32(45):5893-900. doi: 10.1016/j.vaccine.2014.09.003. Epub 2014 Sep 16. Vaccine. 2014. PMID: 25223270

9

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

Brisca G, Fiorillo C, Nesti C, Trucco F, Derchi M, Andaloro A, Assereto S, Morcaldi G, Pedemonte M, Minetti C, Santorelli FM, Bruno C. Brisca G, et al. Among authors: fiorillo c. Biochem Biophys Res Commun. 2015 Mar 13;458(3):601-604. doi: 10.1016/j.bbrc.2015.01.157. Epub 2015 Feb 11. Biochem Biophys Res Commun. 2015. PMID: 25680467 Review.

10

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D, Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C. Biancheri R, et al. Among authors: fiorillo c. JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 Apr 9. JIMD Rep. 2015. PMID: 25854774 Free PMC article.

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