Fabrizi GM - Search Results

1

Sustained response to subcutaneous immunoglobulins in chronic ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA): report of two cases and review of the literature.

Marastoni D, Africa L, Peretti A, Bocci S, Insana L, Ferrari S, Ginanneschi F, Zanette G, Fabrizi GM, Giannini F. Marastoni D, et al. Among authors: fabrizi gm. J Neurol. 2020 Aug;267(8):2353-2361. doi: 10.1007/s00415-020-09843-y. Epub 2020 Apr 28. J Neurol. 2020. PMID: 32347337 Review.

2

Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.

Federico A, Dotti MT, Fabrizi GM, Palmeri S, Massimo L, Robinson BH, Malandrini A, Guazzi GC. Federico A, et al. Among authors: fabrizi gm. Eur Neurol. 1990;30(3):123-7. doi: 10.1159/000117327. Eur Neurol. 1990. PMID: 2162773

3

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.

Ferrarini M, Squintani G, Cavallaro T, Ferrari S, Rizzuto N, Fabrizi GM. Ferrarini M, et al. Among authors: fabrizi gm. J Neurol Sci. 2007 Sep 15;260(1-2):219-24. doi: 10.1016/j.jns.2007.05.015. Epub 2007 Jun 18. J Neurol Sci. 2007. PMID: 17572444

4

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.

Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N. Fabrizi GM, et al. Neurology. 2007 Jul 17;69(3):291-5. doi: 10.1212/01.wnl.0000265820.51075.61. Neurology. 2007. PMID: 17636067

5

Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy.

Briani C, Adami F, Cavallaro T, Taioli F, Ferrari S, Fabrizi G. Briani C, et al. Muscle Nerve. 2008 Jul;38(1):921-3. doi: 10.1002/mus.21062. Muscle Nerve. 2008. PMID: 18563718

6

Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.

Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P. Fabrizi GM, et al. Neurology. 2009 Mar 31;72(13):1160-4. doi: 10.1212/01.wnl.0000345373.58618.b6. Neurology. 2009. PMID: 19332693

7

Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis.

Briani C, Cavallaro T, Ferrari S, Taioli F, Calamelli S, Verga L, Adami F, Fabrizi GM. Briani C, et al. Among authors: fabrizi gm. J Neurol. 2012 Oct;259(10):2226-8. doi: 10.1007/s00415-012-6529-z. Epub 2012 May 12. J Neurol. 2012. PMID: 22580845 No abstract available.

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. Among authors: fabrizi gm. 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: fabrizi gm. JAMA Neurol. 2017 Feb 1;74(2):155-162. doi: 10.1001/jamaneurol.2016.4614. JAMA Neurol. 2017. PMID: 27942718

10

The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study.

Fabrizi GM, Tamburin S, Cavallaro T, Cabrini I, Ferrarini M, Taioli F, Magrinelli F, Zanette G. Fabrizi GM, et al. Clin Neurophysiol. 2018 Jan;129(1):21-32. doi: 10.1016/j.clinph.2017.09.117. Epub 2017 Oct 20. Clin Neurophysiol. 2018. PMID: 29136549

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