Bassi MT - Search Results

1

Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.

Decio A, Giorda R, Panzeri E, Bassi MT, D'Angelo MG. Decio A, et al. Among authors: bassi mt. Neurol Sci. 2024 Feb;45(2):819-823. doi: 10.1007/s10072-023-07102-2. Epub 2023 Oct 4. Neurol Sci. 2024. PMID: 37792112 No abstract available.

2

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

Tonelli A, D'Angelo MG, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi AC, Bresolin N, Bassi MT. Tonelli A, et al. Among authors: bassi mt. J Neurol Sci. 2006 Feb 15;241(1-2):13-7. doi: 10.1016/j.jns.2005.10.007. Epub 2005 Dec 2. J Neurol Sci. 2006. PMID: 16325861

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

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, Pozzoli U, D'Angelo MG, Meola G, Martinuzzi A, Crimella C, Redaelli F, Panzeri C, Renieri A, Comi GP, Turconi AC, Bresolin N, Bassi MT. Arnoldi A, et al. Among authors: bassi mt. Hum Mutat. 2008 Apr;29(4):522-31. doi: 10.1002/humu.20682. Hum Mutat. 2008. PMID: 18200586

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

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT. Crimella C, et al. Among authors: bassi mt. J Med Genet. 2010 Oct;47(10):712-6. doi: 10.1136/jmg.2010.077909. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685671

7

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

8

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: bassi mt. 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.

9

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

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

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