Fabrizi GM - Search Results

1

Rare among Rare: Phenotypes of Uncommon CMT Genotypes.

Gentile L, Russo M, Taioli F, Ferrarini M, Aguennouz M, Rodolico C, Toscano A, Fabrizi GM, Mazzeo A. Gentile L, et al. Among authors: fabrizi gm. Brain Sci. 2021 Dec 8;11(12):1616. doi: 10.3390/brainsci11121616. Brain Sci. 2021. PMID: 34942918 Free PMC article.

2

Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases.

Fabrizi GM, Simonati A, Morbin M, Cavallaro T, Taioli F, Benedetti MD, Edomi P, Rizzuto N. Fabrizi GM, et al. Muscle Nerve. 1998 Jul;21(7):869-77. doi: 10.1002/(sici)1097-4598(199807)21:7<869::aid-mus4>3.0.co;2-4. Muscle Nerve. 1998. PMID: 9626246

3

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. 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.

4

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: fabrizi gm. Neuromuscul Disord. 1999 Jun;9(4):257-61. doi: 10.1016/s0960-8966(99)00008-5. Neuromuscul Disord. 1999. PMID: 10399754

5

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. Neurology. 1999 Sep 11;53(4):846-51. doi: 10.1212/wnl.53.4.846. Neurology. 1999. PMID: 10489052

6

Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.

Fabrizi GM, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone P, Rizzuto N. Fabrizi GM, et al. Acta Neuropathol. 2000 Sep;100(3):299-304. doi: 10.1007/s004019900175. Acta Neuropathol. 2000. PMID: 10965800

7

PMP22 related congenital hypomyelination neuropathy.

Fabrizi GM, Simonati A, Taioli F, Cavallaro T, Ferrarini M, Rigatelli F, Pini A, Mostacciuolo ML, Rizzuto N. Fabrizi GM, et al. J Neurol Neurosurg Psychiatry. 2001 Jan;70(1):123-6. doi: 10.1136/jnnp.70.1.123. J Neurol Neurosurg Psychiatry. 2001. PMID: 11118262 Free PMC article.

8

A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.

Fabrizi GM, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N. Fabrizi GM, et al. Neurology. 2001 Jul 10;57(1):101-5. doi: 10.1212/wnl.57.1.101. Neurology. 2001. PMID: 11445635

9

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: fabrizi gm. J Neurol. 2002 Sep;249(9):1298-302. doi: 10.1007/s00415-002-0810-5. J Neurol. 2002. PMID: 12242557

10

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.

Fabrizi GM, Cavallaro T, Angiari C, Bertolasi L, Cabrini I, Ferrarini M, Rizzuto N. Fabrizi GM, et al. Neurology. 2004 Apr 27;62(8):1429-31. doi: 10.1212/01.wnl.0000120664.07186.3c. Neurology. 2004. PMID: 15111691

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