Borgatti R - Search Results

1

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study; Kini U, Philippe C. Piard J, et al. Among authors: borgatti r. Genet Med. 2019 Jul;21(7):1667-1671. doi: 10.1038/s41436-019-0460-y. Genet Med. 2019. PMID: 30783266 Free PMC article.

2

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

Tonelli A, Romaniello R, Grasso R, Cavallini A, Righini A, Bresolin N, Borgatti R, Bassi MT. Tonelli A, et al. Among authors: borgatti r. Clin Genet. 2010 Nov;78(5):432-40. doi: 10.1111/j.1399-0004.2010.01417.x. Clin Genet. 2010. PMID: 20584031

3

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

Romaniello R, Zucca C, Tonelli A, Bonato S, Baschirotto C, Zanotta N, Epifanio R, Righini A, Bresolin N, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: borgatti r. J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):840-3. doi: 10.1136/jnnp.2008.163402. J Neurol Neurosurg Psychiatry. 2010. PMID: 20682717

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: 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.

5

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

6

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

7

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.

8

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.

9

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

Romaniello R, Saettini F, Panzeri E, Arrigoni F, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: borgatti r. Neuroreport. 2015 Mar 25;26(5):254-7. doi: 10.1097/WNR.0000000000000337. Neuroreport. 2015. PMID: 25714420

10

Learning to live without the cerebellum.

Arrigoni F, Romaniello R, Nordio A, Gagliardi C, Borgatti R. Arrigoni F, et al. Among authors: borgatti r. Neuroreport. 2015 Sep 30;26(14):809-13. doi: 10.1097/WNR.0000000000000428. Neuroreport. 2015. PMID: 26302158

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