Testi S - Search Results

1

Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.

Campagnolo M, Taioli F, Cacciavillani M, Ruiz M, Luigetti M, Salvalaggio A, Castellani F, Testi S, Ferrarini M, Cavallaro T, Gasparotti R, Fabrizi GM, Briani C. Campagnolo M, et al. Among authors: testi s. J Peripher Nerv Syst. 2020 Mar;25(1):19-26. doi: 10.1111/jns.12362. Epub 2020 Jan 14. J Peripher Nerv Syst. 2020. PMID: 31919945

2

Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.

Taioli F, Cabrini I, Cavallaro T, Simonati A, Testi S, Fabrizi GM. Taioli F, et al. Among authors: testi s. J Peripher Nerv Syst. 2011 Mar;16(1):59-64. doi: 10.1111/j.1529-8027.2011.00319.x. J Peripher Nerv Syst. 2011. PMID: 21504504

3

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.

Stancanelli C, Taioli F, Testi S, Fabrizi GM, Arena MG, Granata F, Russo M, Gentile L, Vita G, Mazzeo A. Stancanelli C, et al. Among authors: testi s. J Peripher Nerv Syst. 2012 Dec;17(4):407-11. doi: 10.1111/j.1529-8027.2012.00439.x. J Peripher Nerv Syst. 2012. PMID: 23279342

4

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.

Gentile L, Russo M, Fabrizi GM, Taioli F, Ferrarini M, Testi S, Alfonzo A, Aguennouz M, Toscano A, Vita G, Mazzeo A. Gentile L, et al. Among authors: testi s. Neurol Sci. 2020 May;41(5):1239-1243. doi: 10.1007/s10072-019-04219-1. Epub 2020 Jan 4. Neurol Sci. 2020. PMID: 31902012

5

RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.

Tagliapietra M, Cardellini D, Ferrarini M, Testi S, Ferrari S, Monaco S, Cavallaro T, Fabrizi GM. Tagliapietra M, et al. Among authors: testi s. J Neurol. 2021 Nov;268(11):4280-4290. doi: 10.1007/s00415-021-10552-3. Epub 2021 Apr 21. J Neurol. 2021. PMID: 33884451 Free PMC article.

6

A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.

Testi S, Peluso S, Fabrizi GM, Antenora A, Russo CV, Pappatà S, Padovani A, Ferrarini M, Filla A. Testi S, et al. J Alzheimers Dis. 2014;41(3):709-14. doi: 10.3233/JAD-140081. J Alzheimers Dis. 2014. PMID: 24718101

7

Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene.

Testi S, Fabrizi GM, Pompanin S, Cagnin A. Testi S, et al. J Alzheimers Dis. 2012;31(1):7-11. doi: 10.3233/JAD-2012-120280. J Alzheimers Dis. 2012. PMID: 22531416

8

Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.

Testi S, Tamburin S, Zanette G, Fabrizi GM. Testi S, et al. J Alzheimers Dis. 2015;44(1):49-56. doi: 10.3233/JAD-141794. J Alzheimers Dis. 2015. PMID: 25182743

9

Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples.

Bongianni M, Orrù C, Groveman BR, Sacchetto L, Fiorini M, Tonoli G, Triva G, Capaldi S, Testi S, Ferrari S, Cagnin A, Ladogana A, Poleggi A, Colaizzo E, Tiple D, Vaianella L, Castriciano S, Marchioni D, Hughson AG, Imperiale D, Cattaruzza T, Fabrizi GM, Pocchiari M, Monaco S, Caughey B, Zanusso G. Bongianni M, et al. Among authors: testi s. JAMA Neurol. 2017 Feb 1;74(2):155-162. doi: 10.1001/jamaneurol.2016.4614. JAMA Neurol. 2017. PMID: 27942718

10

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Testi S, Malerba G, Ferrarini M, Ragno M, Pradotto L, Mauro A, Fabrizi GM. Testi S, et al. J Neurol Sci. 2012 Aug 15;319(1-2):37-41. doi: 10.1016/j.jns.2012.05.025. Epub 2012 Jun 3. J Neurol Sci. 2012. PMID: 22664156

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