Romaniello R - Search Results

1

Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Della Vecchia S, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Della Vecchia S, et al. Among authors: romaniello r. J Neurol. 2022 Jan;269(1):451. doi: 10.1007/s00415-021-10839-5. J Neurol. 2022. PMID: 34652506 No abstract available.

2

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT. Zucca C, et al. Among authors: romaniello r. Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489. Arch Neurol. 2008. PMID: 18413471 Free article.

3

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: romaniello r. Clin Genet. 2010 Nov;78(5):432-40. doi: 10.1111/j.1399-0004.2010.01417.x. Clin Genet. 2010. PMID: 20584031

4

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. J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):840-3. doi: 10.1136/jnnp.2008.163402. J Neurol Neurosurg Psychiatry. 2010. PMID: 20682717

5

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. 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.

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

Romaniello R, Arrigoni F, Bassi MT, Borgatti R. Romaniello R, et al. 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.

10

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. Neuroreport. 2015 Mar 25;26(5):254-7. doi: 10.1097/WNR.0000000000000337. Neuroreport. 2015. PMID: 25714420

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