Rizzuto N - Search Results

1

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: rizzuto n. 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

2

Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.

Simonati A, Fabrizi GM, Taioli F, Polo A, Cerini R, Rizzuto N. Simonati A, et al. Among authors: rizzuto n. J Neurol. 2002 Sep;249(9):1298-302. doi: 10.1007/s00415-002-0810-5. J Neurol. 2002. PMID: 12242557

3

An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy.

Frigerio R, Fabrizi GM, Ferrarini M, Cavallaro T, Brighina L, Santoro P, Agostoni E, Cavaletti G, Rizzuto N, Ferrarese C. Frigerio R, et al. Among authors: rizzuto n. Amyloid. 2004 Jun;11(2):121-4. doi: 10.1080/13506120410001727767. Amyloid. 2004. PMID: 15478468

4

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.

Fabrizi GM, Pellegrini M, Angiari C, Cavallaro T, Morini A, Taioli F, Cabrini I, Orrico D, Rizzuto N. Fabrizi GM, et al. Among authors: rizzuto n. Neuromuscul Disord. 2006 Mar;16(3):183-7. doi: 10.1016/j.nmd.2006.01.006. Epub 2006 Feb 20. Neuromuscul Disord. 2006. PMID: 16488608

5

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N. Fabrizi GM, et al. Among authors: rizzuto n. Brain. 2007 Feb;130(Pt 2):394-403. doi: 10.1093/brain/awl284. Epub 2006 Oct 18. Brain. 2007. PMID: 17052987

6

Atypical Alzheimer's disease: a case report.

Iemolo F, Cavallaro T, Rizzuto N. Iemolo F, et al. Among authors: rizzuto n. Neurol Sci. 2010 Oct;31(5):643-6. doi: 10.1007/s10072-010-0334-1. Epub 2010 Jun 15. Neurol Sci. 2010. PMID: 20552242

7

HIV-associated PML presenting as epilepsia partialis continua.

Ferrari S, Monaco S, Morbin M, Zanusso G, Bertolasi L, Cerini R, Rizzuto N. Ferrari S, et al. Among authors: rizzuto n. J Neurol Sci. 1998 Dec 11;161(2):180-4. doi: 10.1016/s0022-510x(98)00281-0. J Neurol Sci. 1998. PMID: 9879702

8

Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome.

Fabrizi GM, Cavallaro T, Morbin M, Simonati A, Taioli F, Rizzuto N. Fabrizi GM, et al. Among authors: rizzuto n. J Neurol Neurosurg Psychiatry. 1999 Mar;66(3):386-9. doi: 10.1136/jnnp.66.3.386. J Neurol Neurosurg Psychiatry. 1999. PMID: 10084540 Free PMC article.

9

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22.

Simonati A, Fabrizi GM, Pasquinelli A, Taioli F, Cavallaro T, Morbin M, Marcon G, Papini M, Rizzuto N. Simonati A, et al. Among authors: rizzuto n. Neuromuscul Disord. 1999 Jun;9(4):257-61. doi: 10.1016/s0960-8966(99)00008-5. Neuromuscul Disord. 1999. PMID: 10399754

10

Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.

Fabrizi GM, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N. Fabrizi GM, et al. Among authors: rizzuto n. Neurology. 1999 Sep 11;53(4):846-51. doi: 10.1212/wnl.53.4.846. Neurology. 1999. PMID: 10489052

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