Mostacciuolo ML - Search Results

1

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. Among authors: mostacciuolo ml. 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.

2

A novel missense mutation in the L1CAM gene in a boy with L1 disease.

Simonati A, Boaretto F, Vettori A, Dabrilli P, Criscuolo L, Rizzuto N, Mostacciuolo ML. Simonati A, et al. Among authors: mostacciuolo ml. Neurol Sci. 2006 Jun;27(2):114-7. doi: 10.1007/s10072-006-0610-2. Neurol Sci. 2006. PMID: 16816908

3

Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.

Boaretto F, Vettori A, Casarin A, Vazza G, Muglia M, Rossetto MG, Cavallaro T, Rizzuto N, Carelli V, Salviati L, Mostacciuolo ML, Martinuzzi A. Boaretto F, et al. Among authors: mostacciuolo ml. Neurology. 2010 Jun 8;74(23):1919-21. doi: 10.1212/WNL.0b013e3181e240f9. Neurology. 2010. PMID: 20530328 No abstract available.

4

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F. Mostacciuolo ML, et al. Hum Mutat. 2001;18(1):32-41. doi: 10.1002/humu.1147. Hum Mutat. 2001. PMID: 11438991

5

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.

Gregianin E, Pallafacchina G, Zanin S, Crippa V, Rusmini P, Poletti A, Fang M, Li Z, Diano L, Petrucci A, Lispi L, Cavallaro T, Fabrizi GM, Muglia M, Boaretto F, Vettori A, Rizzuto R, Mostacciuolo ML, Vazza G. Gregianin E, et al. Among authors: mostacciuolo ml. Hum Mol Genet. 2016 Sep 1;25(17):3741-3753. doi: 10.1093/hmg/ddw220. Epub 2016 Jul 8. Hum Mol Genet. 2016. PMID: 27402882 Free article.

6

Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.

Zortea M, Vettori A, Trevisan CP, Bellini S, Vazza G, Armani M, Simonati A, Mostacciuolo ML. Zortea M, et al. Among authors: mostacciuolo ml. J Med Genet. 2002 Jun;39(6):387-90. doi: 10.1136/jmg.39.6.387. J Med Genet. 2002. PMID: 12070243 Free PMC article.

7

Co-segregation of LMNA and PMP22 gene mutations in the same family.

Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C. Pegoraro E, et al. Among authors: mostacciuolo ml. Neuromuscul Disord. 2005 Dec;15(12):858-62. doi: 10.1016/j.nmd.2005.08.008. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288874

8

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.

Gregianin E, Vazza G, Scaramel E, Boaretto F, Vettori A, Leonardi E, Tosatto SC, Manara R, Pegoraro E, Mostacciuolo ML. Gregianin E, et al. Among authors: mostacciuolo ml. Eur J Neurol. 2013 Nov;20(11):1486-91. doi: 10.1111/ene.12220. Epub 2013 Jun 25. Eur J Neurol. 2013. PMID: 23800155

9

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

Bergamin G, Boaretto F, Briani C, Pegoraro E, Cacciavillani M, Martinuzzi A, Muglia M, Vettori A, Vazza G, Mostacciuolo ML. Bergamin G, et al. Among authors: mostacciuolo ml. Neuromolecular Med. 2014 Sep;16(3):540-50. doi: 10.1007/s12017-014-8307-9. Epub 2014 May 13. Neuromolecular Med. 2014. PMID: 24819634

10

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.

Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A, Bassi MT, Martinuzzi A. Dalpozzo F, et al. Among authors: mostacciuolo ml. Neurology. 2003 Aug 26;61(4):580-1. doi: 10.1212/01.wnl.0000078189.73611.df. Neurology. 2003. PMID: 12939451 No abstract available.

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