Citrigno L - Search Results

1

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

McCorquodale DS 3rd, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak-Vance MA, Züchner S. McCorquodale DS 3rd, et al. Among authors: citrigno l. Clin Genet. 2011 Jun;79(6):523-30. doi: 10.1111/j.1399-0004.2010.01501.x. Clin Genet. 2011. PMID: 20718791 Free PMC article.

2

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.

Magariello A, Russo C, Citrigno L, Züchner S, Patitucci A, Mazzei R, Conforti FL, Ferlazzo E, Aguglia U, Muglia M. Magariello A, et al. Among authors: citrigno l. J Neurol Sci. 2017 Jan 15;372:347-349. doi: 10.1016/j.jns.2016.11.069. Epub 2016 Dec 5. J Neurol Sci. 2017. PMID: 28017243 No abstract available.

3

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.

Magariello A, Citrigno L, Zuchner S, Gonzalez M, Patitucci A, Sofia V, Conforti FL, Pappalardo I, Mazzei R, Ungaro C, Zappia M, Muglia M. Magariello A, et al. Among authors: citrigno l. Eur J Neurol. 2014 Mar;21(3):e25-6. doi: 10.1111/ene.12305. Eur J Neurol. 2014. PMID: 24517879 No abstract available.

4

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: citrigno l. 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

5

A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.

Muglia M, Magariello A, Citrigno L, Passamonti L, Sprovieri T, Conforti FL, Mazzei R, Patitucci A, Gabriele AL, Ungaro C, Bellesi M, Quattrone A. Muglia M, et al. Among authors: citrigno l. Clin Genet. 2008 May;73(5):486-91. doi: 10.1111/j.1399-0004.2008.00969.x. Epub 2008 Mar 11. Clin Genet. 2008. PMID: 18336586

6

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.

Citrigno L, Magariello A, Pugliese P, Di Palma G, Conforti FL, Petrone A, Muglia M. Citrigno L, et al. Acta Neurol Belg. 2018 Dec;118(4):643-646. doi: 10.1007/s13760-018-1039-0. Epub 2018 Nov 9. Acta Neurol Belg. 2018. PMID: 30411208

7

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

Magariello A, Tortorella C, Patitucci A, Tortelli R, Liguori M, Mazzei R, Conforti FL, Citrigno L, Ungaro C, Simone IL, Muglia M. Magariello A, et al. Among authors: citrigno l. Eur J Neurol. 2013 Jan;20(1):e22-3. doi: 10.1111/ene.12000. Eur J Neurol. 2013. PMID: 23279441 No abstract available.

8

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.

Magariello A, Tortorella C, Citrigno L, Patitucci A, Tortelli R, Mazzei R, Conforti FL, Ungaro C, Sproviero W, Gambardella A, Muglia M. Magariello A, et al. Among authors: citrigno l. Muscle Nerve. 2012 Jun;45(6):919-20. doi: 10.1002/mus.23360. Muscle Nerve. 2012. PMID: 22581552 No abstract available.

9

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series.

Pennisi M, Raggi A, Barone R, Muglia M, Citrigno L, Cantone M, Lanza G, Pennisi G, Ferri R, Bella R. Pennisi M, et al. Among authors: citrigno l. Acta Neurol Belg. 2012 Mar;112(1):57-64. doi: 10.1007/s13760-012-0042-0. Epub 2012 Feb 9. Acta Neurol Belg. 2012. PMID: 22427291

10

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.

Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A. Luisa Conforti F, et al. Among authors: citrigno l. Amyotroph Lateral Scler. 2009 Feb;10(1):58-60. doi: 10.1080/17482960802163853. Amyotroph Lateral Scler. 2009. PMID: 18608106

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