Fabrizi GM - Search Results

1

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.

Bertini A, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Tagliapietra M, Grandis M, Previtali SC, Falzone YM, Allegri I, Padua L, Pazzaglia C, Tramacere I, Cavalca E, Saveri P, Quattrone A, Valentino P, Tozza S, Gentile L, Russo M, Mazzeo A, Vita G, Prada V, Zuccarino R, Ferraro F, Pisciotta C, Pareyson D; Italian CMT Network. Bertini A, et al. Among authors: fabrizi gm. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):434-441. doi: 10.1136/jnnp-2023-332422. J Neurol Neurosurg Psychiatry. 2024. PMID: 37918904 Free PMC article.

2

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

Fabrizi GM, Cardaioli E, Grieco GS, Cavallaro T, Malandrini A, Manneschi L, Dotti MT, Federico A, Guazzi G. Fabrizi GM, et al. J Neurol Neurosurg Psychiatry. 1996 Jul;61(1):47-51. doi: 10.1136/jnnp.61.1.47. J Neurol Neurosurg Psychiatry. 1996. PMID: 8676159 Free PMC article.

3

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

4

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.

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

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

10

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. 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

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