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Page 1
Distal motor neuropathy associated with novel EMILIN1 mutation.
Iacomino M, Doliana R, Marchese M, Capuano A, Striano P, Spessotto P, Bosisio G, Iodice R, Manganelli F, Lanteri P, Orsini A, Baldassari S, Baratto S, Fruscione F, Prada V, Broda P, Tessa A, Bertocci G, Schenone A, Colombatti A, Minetti C, Santorelli FM, Zara F, Fiorillo C. Iacomino M, et al. Among authors: minetti c. Neurobiol Dis. 2020 Apr;137:104757. doi: 10.1016/j.nbd.2020.104757. Epub 2020 Jan 21. Neurobiol Dis. 2020. PMID: 31978608 Free article.
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.
Iacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F. Iacomino M, et al. Among authors: minetti c. Eur J Paediatr Neurol. 2018 May;22(3):541-543. doi: 10.1016/j.ejpn.2017.12.005. Epub 2017 Dec 18. Eur J Paediatr Neurol. 2018. PMID: 29307700
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.
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio A, Minetti C, Genton P, Zara F. Vanni N, et al. Among authors: minetti c. Ann Neurol. 2014 Aug;76(2):206-12. doi: 10.1002/ana.24170. Epub 2014 May 20. Ann Neurol. 2014. PMID: 24782409
White matter involvement in a family with a novel PDGFB mutation.
Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F. Biancheri R, et al. Among authors: minetti c. Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27227165 Free PMC article.
Clinical and molecular consequences of exon 78 deletion in DMD gene.
Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C. Traverso M, et al. Among authors: minetti c. J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19. J Hum Genet. 2018. PMID: 29556034
Deep learning for neonatal seizure detection: a friend rather than foe.
Striano P, Minetti C. Striano P, et al. Among authors: minetti c. Lancet Child Adolesc Health. 2020 Oct;4(10):711-712. doi: 10.1016/S2352-4642(20)30242-X. Epub 2020 Aug 27. Lancet Child Adolesc Health. 2020. PMID: 32861270 Free article. No abstract available.
377 results