Arrigoni F - Search Results

1

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: arrigoni f. 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.

2

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.

Briguglio M, Pinelli L, Giordano L, Ferraris A, Germanò E, Micheletti S, Severino M, Bernardini L, Loddo S, Tortorella G, Ormitti F, Gasparotti R; CBCD Study Group; Rossi A, Valente EM. Briguglio M, et al. Orphanet J Rare Dis. 2011 Jun 8;6:36. doi: 10.1186/1750-1172-6-36. Orphanet J Rare Dis. 2011. PMID: 21651769 Free PMC article.

3

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E. Poretti A, et al. Among authors: arrigoni f. Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. Orphanet J Rare Dis. 2012. PMID: 22236771 Free PMC article.

4

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: arrigoni f. 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.

5

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.

Tonelli A, D'Angelo MG, Arrigoni F, Brighina E, Arnoldi A, Citterio A, Bresolin N, Bassi MT. Tonelli A, et al. Among authors: arrigoni f. Eur J Neurol. 2012 Nov;19(11):e127-9. doi: 10.1111/j.1468-1331.2012.03838.x. Epub 2012 Aug 27. Eur J Neurol. 2012. PMID: 22925154 No abstract available.

6

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: arrigoni f. J Child Neurol. 2013 Dec;28(12):1702-8. doi: 10.1177/0883073812467849. Epub 2012 Dec 5. J Child Neurol. 2013. PMID: 23220793

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: arrigoni f. J Child Neurol. 2014 Feb;29(2):249-53. doi: 10.1177/0883073813506936. Epub 2013 Oct 29. J Child Neurol. 2014. PMID: 24170257

8

Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.

Vantaggiato C, Cantoni O, Guidarelli A, Romaniello R, Citterio A, Arrigoni F, Doneda C, Castelli M, Airoldi G, Bresolin N, Borgatti R, Bassi MT. Vantaggiato C, et al. Among authors: arrigoni f. Brain Dev. 2014 Sep;36(8):682-9. doi: 10.1016/j.braindev.2013.10.003. Epub 2013 Oct 31. Brain Dev. 2014. PMID: 24183476

9

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Citterio A, Arnoldi A, Panzeri E, D'Angelo MG, Filosto M, Dilena R, Arrigoni F, Castelli M, Maghini C, Germiniasi C, Menni F, Martinuzzi A, Bresolin N, Bassi MT. Citterio A, et al. Among authors: arrigoni f. J Neurol. 2014 Feb;261(2):373-81. doi: 10.1007/s00415-013-7206-6. Epub 2013 Dec 13. J Neurol. 2014. PMID: 24337409 Free article.

10

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: arrigoni f. 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.

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