Muglia M - Search Results

1

NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders.

La Cognata V, Morello G, Gentile G, Cavalcanti F, Cittadella R, Conforti FL, De Marco EV, Magariello A, Muglia M, Patitucci A, Spadafora P, D'Agata V, Ruggieri M, Cavallaro S. La Cognata V, et al. Among authors: muglia m. Curr Genomics. 2018 Sep;19(6):431-443. doi: 10.2174/1389202919666180404105451. Curr Genomics. 2018. PMID: 30258275 Free PMC article.

2

SMN1 gene copy number analyses for SMA healthy carriers in Italian population.

Patitucci A, Magariello A, Ungaro C, Muglia M, Conforti FL, Gabriele AL, Citrigno L, Sproviero W, Mazzei R. Patitucci A, et al. Among authors: muglia m. J Pediatr Genet. 2012 Jun;1(2):99-102. doi: 10.3233/PGE-2012-017. J Pediatr Genet. 2012. PMID: 27625809 Free PMC article.

3

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy.

Ungaro C, Sprovieri T, Conforti FL, Muglia M, Patitucci A, Magariello A, Gabriele AL, Quattrone A, Mazzei R. Ungaro C, et al. Among authors: muglia m. Neurosci Lett. 2007 May 11;418(1):1-3. doi: 10.1016/j.neulet.2007.02.059. Epub 2007 Mar 1. Neurosci Lett. 2007. PMID: 17368936

4

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

Mazzei R, Conforti FL, Magariello A, Bravaccio C, Militerni R, Gabriele AL, Sampaolo S, Patitucci A, Di Iorio G, Muglia M, Quattrone A. Mazzei R, et al. Among authors: muglia m. J Neurol. 2002 Oct;249(10):1398-400. doi: 10.1007/s00415-002-0849-3. J Neurol. 2002. PMID: 12382155

5

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.

Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Casari G, Ardito B, Lastilla M, Gambardella A, Quattrone A. Muglia M, et al. J Neurol. 2002 Oct;249(10):1413-6. doi: 10.1007/s00415-002-0856-4. J Neurol. 2002. PMID: 12382159

6

A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography.

Mazzei R, Conforti FL, Muglia M, Sprovieri T, Patitucci A, Magariello A, Gabriele AL, Quattrone A. Mazzei R, et al. Among authors: muglia m. J Child Neurol. 2003 Apr;18(4):269-71. doi: 10.1177/08830738030180041301. J Child Neurol. 2003. PMID: 12760430

7

Comparison of different techniques for detecting 17p12 duplication in CMT1A.

Patitucci A, Muglia M, Magariello A, Gabriele AL, Peluso G, Sprovieri T, Conforti FL, Mazzei R, Ungaro C, Condino F, Valentino P, Bono F, Rodolico C, Mazzeo A, Toscano A, Vita G, Quattrone A. Patitucci A, et al. Among authors: muglia m. Neuromuscul Disord. 2005 Jul;15(7):488-92. doi: 10.1016/j.nmd.2005.04.006. Neuromuscul Disord. 2005. PMID: 15941660

8

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.

Magariello A, Muglia M, Patitucci A, Mazzei R, Conforti FL, Gabriele AL, Sprovieri T, Ungaro C, Gambardella A, Mancuso M, Siciliano G, Branca D, Aguglia U, de Angelis MV, Longo K, Quattrone A. Magariello A, et al. Among authors: muglia m. Neuromuscul Disord. 2006 Jun;16(6):387-90. doi: 10.1016/j.nmd.2006.03.009. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684598

9

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.

Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N, Quattrone A. Muglia M, et al. J Neurol Sci. 2007 Dec 15;263(1-2):194-7. doi: 10.1016/j.jns.2007.05.034. Epub 2007 Aug 20. J Neurol Sci. 2007. PMID: 17707409

10

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

Magariello A, Muglia M, Patitucci A, Ungaro C, Mazzei R, Gabriele AL, Sprovieri T, Citrigno L, Conforti FL, Liguori M, Gambardella A, Bono F, Piccoli T, Patti F, Zappia M, Mancuso M, Iemolo F, Quattrone A. Magariello A, et al. Among authors: muglia m. J Neurol Sci. 2010 Jan 15;288(1-2):96-100. doi: 10.1016/j.jns.2009.09.025. Epub 2009 Oct 28. J Neurol Sci. 2010. PMID: 19875132

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