Borgatti R - Search Results

1

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Palagano E, Zuccarini G, Prontera P, Borgatti R, Stangoni G, Elisei S, Mantero S, Menale C, Forlino A, Uva P, Oppo M, Vezzoni P, Villa A, Merlo GR, Sobacchi C. Palagano E, et al. Among authors: borgatti r. Bone. 2018 Sep;114:125-136. doi: 10.1016/j.bone.2018.06.013. Epub 2018 Jun 19. Bone. 2018. PMID: 29929043

2

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Romaniello R, Arrigoni F, Cavallini A, Tenderini E, Baschirotto C, Triulzi F, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: borgatti r. Dev Med Child Neurol. 2014 Apr;56(4):354-60. doi: 10.1111/dmcn.12370. Epub 2014 Jan 7. Dev Med Child Neurol. 2014. PMID: 24392928 Free article. Review.

3

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

Romaniello R, Tonelli A, Arrigoni F, Baschirotto C, Triulzi F, Bresolin N, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: borgatti r. Dev Med Child Neurol. 2012 Aug;54(8):765-9. doi: 10.1111/j.1469-8749.2012.04316.x. Epub 2012 May 16. Dev Med Child Neurol. 2012. PMID: 22591407 Free article.

4

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

Romaniello R, Arrigoni F, Citterio A, Tonelli A, Sforzini C, Rizzari C, Pessina M, Triulzi F, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: borgatti r. J Child Neurol. 2013 Dec;28(12):1702-8. doi: 10.1177/0883073812467849. Epub 2012 Dec 5. J Child Neurol. 2013. PMID: 23220793

5

Tubulin genes and malformations of cortical development.

Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD. Romaniello R, et al. Among authors: borgatti r. Eur J Med Genet. 2018 Dec;61(12):744-754. doi: 10.1016/j.ejmg.2018.07.012. Epub 2018 Jul 17. Eur J Med Genet. 2018. PMID: 30016746 Review.

6

Sequence learning in cerebral palsy.

Gagliardi C, Tavano A, Turconi AC, Pozzoli U, Borgatti R. Gagliardi C, et al. Among authors: borgatti r. Pediatr Neurol. 2011 Mar;44(3):207-13. doi: 10.1016/j.pediatrneurol.2010.10.004. Pediatr Neurol. 2011. PMID: 21310337

7

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

Romaniello R, Zucca C, Tenderini E, Arrigoni F, Ragona F, Zorzi G, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: borgatti r. J Child Neurol. 2014 Feb;29(2):249-53. doi: 10.1177/0883073813506936. Epub 2013 Oct 29. J Child Neurol. 2014. PMID: 24170257

8

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

Arrigoni F, Romaniello R, Peruzzo D, Poretti A, Bassi MT, Pierpaoli C, Valente EM, Nuovo S, Boltshauser E, Huisman TAGM, Triulzi F, Borgatti R. Arrigoni F, et al. Among authors: borgatti r. Eur Radiol. 2019 Feb;29(2):770-782. doi: 10.1007/s00330-018-5610-0. Epub 2018 Jul 31. Eur Radiol. 2019. PMID: 30066250

9

Epilepsy in Tubulinopathy: Personal Series and Literature Review.

Romaniello R, Zucca C, Arrigoni F, Bonanni P, Panzeri E, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: borgatti r. Cells. 2019 Jul 2;8(7):669. doi: 10.3390/cells8070669. Cells. 2019. PMID: 31269740 Free PMC article. Review.

10

Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

Romaniello R, Arrigoni F, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: borgatti r. Brain Dev. 2015 Mar;37(3):273-80. doi: 10.1016/j.braindev.2014.06.002. Epub 2014 Jul 5. Brain Dev. 2015. PMID: 25008804 Review.

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