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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: panicucci c. 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
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. Acta Myol. 2019 Mar 1;38(1):8-12. eCollection 2019 Mar. Acta Myol. 2019. PMID: 31309175 Free PMC article.
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.
Veneruso M, Fiorillo C, Broda P, Baratto S, Traverso M, Donati A, Savasta S, Falsaperla R, Mancardi MM, Pedemonte M, Panicucci C, Piatelli G, Pacetti M, Moscatelli A, Ramenghi LA, Nobili L, Minetti C, Bruno C. Veneruso M, et al. Among authors: panicucci c. Front Neurol. 2021 Oct 5;12:735488. doi: 10.3389/fneur.2021.735488. eCollection 2021. Front Neurol. 2021. PMID: 34675869 Free PMC article.
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. 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-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Fusto A, et al. Among authors: panicucci c. Acta Neuropathol Commun. 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. Acta Neuropathol Commun. 2022. PMID: 35428369 Free PMC article.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Fiorillo C, Capodivento G, Geroldi A, Tozza S, Moroni I, Mohassel P, Cataldi M, Campana C, Morando S, Panicucci C, Pedemonte M, Brolatti N, Siliquini S, Traverso M, Baratto S, Debellis D, Magri S, Prada V, Bellone E, Salpietro V, Donkervoort S, Gable K, Gupta SD, Dunn TM, Bönnemann CG, Taroni F, Bruno C, Schenone A, Mandich P, Nobbio L, Nolano M. Fiorillo C, et al. Among authors: panicucci c. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12842. doi: 10.1111/nan.12842. Epub 2022 Aug 10. Neuropathol Appl Neurobiol. 2022. PMID: 35904184 Free PMC article.
Comprehensive Phenotyping of Peripheral Blood T Lymphocytes in Healthy Mice.
Del Zotto G, Principi E, Antonini F, Baratto S, Panicucci C, Bruno C, Raffaghello L. Del Zotto G, et al. Among authors: panicucci c. Cytometry A. 2021 Mar;99(3):243-250. doi: 10.1002/cyto.a.24246. Epub 2020 Nov 11. Cytometry A. 2021. PMID: 33098601 Free article. Review.
44 results