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Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells.
Salvarani N, Peretto G, Silvia C, Villatore A, Thairi C, Santoni A, Galli C, Carrera P, Sala S, Benedetti S, Di Pasquale E, Di Resta C. Salvarani N, et al. Among authors: carrera p. Int J Mol Sci. 2023 May 31;24(11):9548. doi: 10.3390/ijms24119548. Int J Mol Sci. 2023. PMID: 37298497 Free PMC article.
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC. Benedetti S, et al. Among authors: carrera p. Neurology. 2007 Sep 18;69(12):1285-92. doi: 10.1212/01.wnl.0000261254.87181.80. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377071
Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study.
Carrera P, Di Resta C, Volonteri C, Castiglioni E, Bonfiglio S, Lazarevic D, Cittaro D, Stupka E, Ferrari M, Somaschini M; BPD and Genetics Study Group. Carrera P, et al. Clin Chim Acta. 2015 Dec 7;451(Pt A):39-45. doi: 10.1016/j.cca.2015.01.001. Epub 2015 Jan 8. Clin Chim Acta. 2015. PMID: 25578394
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome.
Micaglio E, Andronache AA, Carrera P, Monasky MM, Locati ET, Pirola B, Presi S, Carminati M, Ferrari M, Giamberti A, Pappone C. Micaglio E, et al. Among authors: carrera p. Int J Mol Sci. 2019 Dec 11;20(24):6247. doi: 10.3390/ijms20246247. Int J Mol Sci. 2019. PMID: 31835735 Free PMC article.
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Scarlino S, Domi T, Pozzi L, Romano A, Pipitone GB, Falzone YM, Mosca L, Penco S, Lunetta C, Sansone V, Tremolizzo L, Fazio R, Agosta F, Filippi M, Carrera P, Riva N, Quattrini A. Scarlino S, et al. Among authors: carrera p. Int J Mol Sci. 2020 May 8;21(9):3346. doi: 10.3390/ijms21093346. Int J Mol Sci. 2020. PMID: 32397312 Free PMC article.
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Frosio A, Micaglio E, Polsinelli I, Calamaio S, Melgari D, Prevostini R, Ghiroldi A, Binda A, Carrera P, Villa M, Mastrocinque F, Presi S, Salerno R, Boccellino A, Anastasia L, Ciconte G, Ricagno S, Pappone C, Rivolta I. Frosio A, et al. Among authors: carrera p. Int J Mol Sci. 2023 Oct 11;24(20):15089. doi: 10.3390/ijms242015089. Int J Mol Sci. 2023. PMID: 37894777 Free PMC article.
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC. Benedetti S, et al. Among authors: carrera p. J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1019-21. doi: 10.1136/jnnp.2004.046110. J Neurol Neurosurg Psychiatry. 2005. PMID: 15965218 Free PMC article.
295 results