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Page 1
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Panicucci C, Fiorillo C, Moro F, Astrea G, Brisca G, Trucco F, Pedemonte M, Lanteri P, Sciarretta L, Minetti C, Santorelli FM, Bruno C. Panicucci C, et al. Among authors: minetti c. JIMD Rep. 2018;38:23-31. doi: 10.1007/8904_2017_25. Epub 2017 Apr 30. JIMD Rep. 2018. PMID: 28456886 Free PMC article.
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: minetti 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.
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. Among authors: minetti c. 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
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Among authors: minetti c. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Novel TRIM32 mutation in sarcotubular myopathy.
Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C. Panicucci C, et al. Among authors: minetti c. Acta Myol. 2019 Mar 1;38(1):8-12. eCollection 2019 Mar. Acta Myol. 2019. PMID: 31309175 Free PMC article.
382 results