Bassi MT - Search Results

1

Epilepsia partialis continua associated with the p.Arg403Cys variant of the DNM1L gene: an unusual clinical progression with two episodes of super-refractory status epilepticus with a 13-year remission interval.

Minghetti S, Giorda R, Mastrangelo M, Tassi L, Zanotta N, Galbiati S, Bassi MT, Zucca C. Minghetti S, et al. Among authors: bassi mt. Epileptic Disord. 2022 Feb 1;24(1):176-182. doi: 10.1684/epd.2021.1375. Epileptic Disord. 2022. PMID: 34787083

2

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

3

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Crippa F, et al. Among authors: bassi mt. Arch Neurol. 2006 May;63(5):750-5. doi: 10.1001/archneur.63.5.750. Arch Neurol. 2006. PMID: 16682546

4

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.

5

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT. Vantaggiato C, et al. Among authors: bassi mt. Hum Mutat. 2009 Jul;30(7):1104-16. doi: 10.1002/humu.21012. Hum Mutat. 2009. PMID: 19431184

6

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

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: 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

8

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

Salvaterra E, Giorda R, Bassi MT, Borgatti R, Knudsen LE, Martinuzzi A, Nobile M, Pozzoli U, Ramelli GP, Reni GL, Rivolta D, Stazi MA, Strazzer S, Thijs C, Toccaceli V, Trabacca A, Turconi AC, Zanini S, Zucca C, Bresolin N, Lenzi On Behalf Of The Pediatric Biobank Elsi Working Group L. Salvaterra E, et al. Among authors: bassi mt. Biopreserv Biobank. 2012 Feb;10(1):29-36. doi: 10.1089/bio.2011.0037. Epub 2011 Dec 13. Biopreserv Biobank. 2012. PMID: 24849751

9

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

Romaniello R, Marelli S, Giorda R, Bedeschi MF, Bonaglia MC, Arrigoni F, Triulzi F, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: bassi mt. J Child Neurol. 2017 Jan;32(1):60-71. doi: 10.1177/0883073816664668. Epub 2016 Sep 29. J Child Neurol. 2017. PMID: 27683483

10

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: bassi mt. Cells. 2019 Jul 2;8(7):669. doi: 10.3390/cells8070669. Cells. 2019. PMID: 31269740 Free PMC article. Review.

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