D'Angelo MG - Search Results

1

Tensor-based morphometry using scalar and directional information of diffusion tensor MRI data (DTBM): Application to hereditary spastic paraplegia.

Sadeghi N, Arrigoni F, D'Angelo MG, Thomas C, Irfanoglu MO, Hutchinson EB, Nayak A, Modi P, Bassi MT, Pierpaoli C. Sadeghi N, et al. Hum Brain Mapp. 2018 Dec;39(12):4643-4651. doi: 10.1002/hbm.24278. Epub 2018 Sep 25. Hum Brain Mapp. 2018. PMID: 30253021 Free PMC article.

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. 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. 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. Hum Mutat. 2008 Apr;29(4):522-31. doi: 10.1002/humu.20682. Hum Mutat. 2008. PMID: 18200586

5

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

Crimella C, Arnoldi A, Crippa F, Mostacciuolo ML, Boaretto F, Sironi M, D'Angelo MG, Manzoni S, Piccinini L, Turconi AC, Toscano A, Musumeci O, Benedetti S, Fazio R, Bresolin N, Daga A, Martinuzzi A, Bassi MT. Crimella C, et al. J Med Genet. 2009 May;46(5):345-51. doi: 10.1136/jmg.2008.063321. Epub 2009 Feb 5. J Med Genet. 2009. PMID: 19196735

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. 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. 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

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.

Tonelli A, D'Angelo MG, Arrigoni F, Brighina E, Arnoldi A, Citterio A, Bresolin N, Bassi MT. Tonelli A, et al. Eur J Neurol. 2012 Nov;19(11):e127-9. doi: 10.1111/j.1468-1331.2012.03838.x. Epub 2012 Aug 27. Eur J Neurol. 2012. PMID: 22925154 No abstract available.

9

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. 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.

10

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

Citterio A, Arnoldi A, Panzeri E, Merlini L, D'Angelo MG, Musumeci O, Toscano A, Bondi A, Martinuzzi A, Bresolin N, Bassi MT. Citterio A, et al. J Neurol. 2015 Dec;262(12):2684-90. doi: 10.1007/s00415-015-7899-9. Epub 2015 Sep 26. J Neurol. 2015. PMID: 26410750 Free article.

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