http://www.cnr.it/ontology/cnr/individuo/prodotto/ID49968

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. (Articolo in rivista)

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A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. (Articolo in rivista) (literal)

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Conforti FL; Sprovieri T; Mazzei R; Ungaro C; La Bella V; Tessitore A; Patitucci A; Magariello A; Gabriele AL; Tedeschi G; Simone IL; Majorana G; Valentino P; Condino F; Bono F; Monsurrò MR; Muglia M, Quattrone A. (2008)
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.
in Neuromuscular disorders; Pergamon-Elsevier Science Ltd., Oxford (Regno Unito)
(literal)

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Conforti FL; Sprovieri T; Mazzei R; Ungaro C; La Bella V; Tessitore A; Patitucci A; Magariello A; Gabriele AL; Tedeschi G; Simone IL; Majorana G; Valentino P; Condino F; Bono F; Monsurrò MR; Muglia M, Quattrone A. (literal)

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F.L. Conforti, T. Sprovieri, R. Mazzei, C. Ungaro, A. Patitucci, A. Magariello, A.L. Gabriele, F. Condino, M. Muglia, A. Quattrone - Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy; V. La Bella - Department of Neurology and Psychiatry, University of Palermo, Palermo, Italy; A. Tessitore, G. Tedeschi, M.R. Monsurrò - Second Division of Neurology, Second University of Naples, Naples, Italy; I.L. Simone - Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy; G. Majorana - Department of Neurosciences, Psychiatric and Anaesthesiological Sciences, University of Messina, Messina, Italy; A. Quattrone - Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy and Institute of Neurology, University Magna Graecia, Catanzaro, Italy (literal)

Titolo

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. (literal)

Abstract

Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS. (literal)

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