Bassi MT - Search Results

1

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

2

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.

Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A, Bassi MT, Martinuzzi A. Dalpozzo F, et al. Among authors: bassi mt. Neurology. 2003 Aug 26;61(4):580-1. doi: 10.1212/01.wnl.0000078189.73611.df. Neurology. 2003. PMID: 12939451 No abstract available.

3

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri MV, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi MT. Borgatti R, et al. Among authors: bassi mt. Neurology. 2004 Jul 13;63(1):57-65. doi: 10.1212/01.wnl.0000132979.08394.6d. Neurology. 2004. PMID: 15249611

4

Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).

Bassi MT, Balottin U, Panzeri C, Piccinelli P, Castaldo P, Barrese V, Soldovieri MV, Miceli F, Colombo M, Bresolin N, Borgatti R, Taglialatela M. Bassi MT, et al. Neurogenetics. 2005 Dec;6(4):185-93. doi: 10.1007/s10048-005-0012-2. Epub 2005 Oct 19. Neurogenetics. 2005. PMID: 16235065 Free article.

5

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.

Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, Panarisi AM, Di Rocco M, Balottin U, Bresolin N, Bassi MT, Borgatti R. Bedeschi MF, et al. Among authors: bassi mt. Pediatr Neurol. 2006 Mar;34(3):186-93. doi: 10.1016/j.pediatrneurol.2005.08.008. Pediatr Neurol. 2006. PMID: 16504787

6

Relationship between migraine and epilepsy in pediatric age.

Piccinelli P, Borgatti R, Nicoli F, Calcagno P, Bassi MT, Quadrelli M, Rossi G, Lanzi G, Balottin U. Piccinelli P, et al. Among authors: bassi mt. Headache. 2006 Mar;46(3):413-21. doi: 10.1111/j.1526-4610.2006.00373.x. Headache. 2006. PMID: 16618257

7

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: bassi mt. Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489. Arch Neurol. 2008. PMID: 18413471 Free article.

8

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

9

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

10

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

Arnoldi A, Crimella C, Tenderini E, Martinuzzi A, D'Angelo MG, Musumeci O, Toscano A, Scarlato M, Fantin M, Bresolin N, Bassi MT. Arnoldi A, et al. Among authors: bassi mt. Clin Genet. 2012 Feb;81(2):150-7. doi: 10.1111/j.1399-0004.2011.01624.x. Epub 2011 Jan 31. Clin Genet. 2012. PMID: 21214876

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