20012018

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

2018

Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects

Salemi, M., Giambirtone, M., Barone, C., Salluzzo, M. G., Russo, R., Giudice, M. L., Ridolfo, F. & Romano, C., 2018, In : Human Cell. 31, 2, p. 179-181 3 p.

Research output: Contribution to journalArticle

2016

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Borgione, E., Castello, F., Lo Giudice, M., Santa Paola, S., Salvatore, S., Berti, G., Malandrini, A., Bottitta, M., Musumeci, S. A. & Scuderi, C., May 2016, In : Neurological Sciences. 37, 5, p. 805-7 3 p.

Research output: Contribution to journalArticle

2015

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Borgione, E., Castello, F., Lo Giudice, M., Santa Paola, S., Salvatore, S., Berti, G., Malandrini, A., Bottitta, M., Musumeci, S. A. & Scuderi, C., Dec 23 2015, (Accepted/In press) In : Neurological Sciences. p. 1-3 3 p.

Research output: Contribution to journalArticle

The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review

Scuderi, C., Borgione, E., Castello, F., Lo Giudice, M., Santa Paola, S., Giambirtone, M., Di Blasi, F. D., Elia, M., Amato, C., Città, S., Gagliano, C., Barbarino, G., Vitello, G. A. & Musumeci, S. A., Apr 1 2015, In : Neuromuscular Disorders. 25, 4, p. 333-339 7 p.

Research output: Contribution to journalArticle

2014
2013

6p22.3 deletion: Report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Di Benedetto, D., Di Vita, G., Romano, C., Lo Giudice, M., Vitello, G. A., Zingale, M., Grillo, L., Castiglia, L., Musumeci, S. A. & Fichera, M., Jan 17 2013, (Accepted/In press) In : Molecular Cytogenetics. p. 4 1 p.

Research output: Contribution to journalArticle

The 9-bp deletion in region v of mtDNA: A risk factor of hearing loss and encephalomyopathy in Caucasian populations?

Borgione, E., Lo Giudice, M., Castello, F., Musumeci, S. A., Di Blasi, F. D., Savio, M., Elia, M., Rizzo, B., Barbarino, G., Romano, S., Calabrese, G., Di Benedetto, D. & Scuderi, C., Jul 2013, In : Neurological Sciences. 34, 7, p. 1223-1226 4 p.

Research output: Contribution to journalArticle

2010

A novel L1CAM mutation in a fetus detected by prenatal diagnosis.

Piccione, M., Matina, F., Fichera, M., Lo Giudice, M., Damiani, G., Jakil, M. C. & Corsello, G., Apr 2010, In : European Journal of Pediatrics. 169, 4, p. 415-419 5 p.

Research output: Contribution to journalArticle

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

Scuderi, C., Borgione, E., Castello, F., Giudice, M. L., Fichera, M., Elia, M., Amato, C., Savio, M., Blasi, F. D. D., Vitello, G. A., Romano, S., DiMauro, S. & Musumeci, S. A., Aug 2010, In : Mitochondrion. 10, 5, p. 548-554 7 p.

Research output: Contribution to journalArticle

2008

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, M., Calabrese, G., Carotenuto, M., Musumeci, S. A., Lo Giudice, M. & Fichera, M., Sep 23 2008, In : Neurology. 71, 13, p. 997-999 3 p.

Research output: Contribution to journalArticle

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., Norga, K., De Ravel, T., Devriendt, K., Bongers, E., De Leeuw, N., Reardon, W., Gimelli, S., Bena, F. & 64 others, Hennekam, R., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S., Mehta, S., Nik-Zainal, S., Woods, C., Firth, H., Parkin, G., Fichera, M., Reitano, S., Lo Giudice, M., Li, K., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Räber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J., Tobias, E., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., Van Binsbergen, E., Nelen, M., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M. C., Regan, R., Skinner, C., Stevenson, R., Antonarakis, S., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J., Walsh, T., Knight, S., Sebat, J., Romano, C., Schwartz, C., Veltman, J., De Vries, B., Vermeesch, J., Barber, J., Willatt, L., Tassabehji, M. & Eichler, E., Oct 16 2008, In : New England Journal of Medicine. 359, 16, p. 1685-1699 15 p.

Research output: Contribution to journalArticle

2006

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia

Lo Giudice, M., Neri, M., Falco, M., Sturnio, M., Calzolari, E., Di Benedetto, D. & Fichera, M., Feb 2006, In : Archives of Neurology. 63, 2, p. 284-287 4 p.

Research output: Contribution to journalArticle

2005

Denaturing HPLC-based assay for detection of ATRX gene mutations [16]

Falco, M., Luciano, D., Sturnio, M., Spalletta, A., Scionti, D., Lo Giudice, M., Romano, C. & Fichera, M., 2005, In : Clinical Chemistry. 51, 7, p. 1314-1315 2 p.

Research output: Contribution to journalArticle

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation [5]

Fichera, M., Falco, M., Lo Giudice, M., Castiglia, L., Guarnaccia, V., Calì, F., Spalletta, A., Scuderi, C., Avola, E. & Romano, C., May 2005, In : Clinical Genetics. 67, 5, p. 446-447 2 p.

Research output: Contribution to journalArticle

2004

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

Fichera, M., Lo Giudice, M., Falco, M., Sturnio, M., Amata, S., Calabrese, O., Bigoni, S., Calzolari, E. & Neri, M., Sep 29 2004, In : Neurology. 63, 6, p. 1108-1110 3 p.

Research output: Contribution to journalArticle

2003

Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome

Borgione, E., Sturnio, M., Spalletta, A., Giudice, M. A. L., Castiglia, L., Galesi, O., Ragusa, A. & Fichera, M., 2003, In : Human Mutation. 21, 5, p. 529-534 6 p.

Research output: Contribution to journalArticle

No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age

Mannucci, P. M., Merlini, P. A., Ardissino, D., Barzuini, C., Bernardi, F., Bernardinelli, L., Cavallini, C., Celli, P., Corsini, G., Ferrario, M., Fetiveau, R., Galli, M., Piazza, A., Ribichini, F., Sacchi, E., Tubaro, M., Zonzin, P., Berzuini, C., Foco, L., Tagliabue, L. & 79 others, Menegatti, M., Peyvandi, F., Repetto, A., Canosi, U., Cucci, V., Buratti, S., Fondazione, S., Ponzetta, M., Rinuncini, M., Spolverato, M., Vetrano, A., Lamponi, M., Cacciavillani, L., Castelli, C., Colizzi, A., Pagnoni, N., Colombi, E., Covini, D., Fantini, G., Dodi, C., Paoloni, P., Maoddi, I., Bardelli, G., Azzarito, M., Beciani, M., Tettamanti, F., Caccia, M. E., Massoli, P., Pozzi, R., Pecchio, F., Barberis, P., Giudice, M., Di Giovanbattista, R., Mazzocco, B., Gaeta, G., Margaglione, M., Diotallevi, P., Salvioni, A., Biancoli, S., Rosi, A., Milanesi, E., Span, S., Saccà, A. C. M., Maugeri, A. C., Scorzoni, D., Maffi, M., Dei Tos, G. A., Cannarozzo, P. P., Vandelli, R., Fici, M., Tempesta, A., Lucchi, G. R., Ricci, G., Baragli, D., Laiso, D., Garzaro, L., Vaninetti, R., Cattadori, G., Picozzi, A., Petacchi, R., Berardi, C., Guiducci, V., Gaddi, O., Franco, N., Buia, E., Fedeli, F., Barillà, F., Irace, L., Sarracino, S., De Giorgio, N., Scalera, G., Elia, M., Sabella, P., Previtera, A., Di Tano, G., Francaviglia, B., Contini, G., Del Nevo, F. & Agricola, P., Mar 4 2003, In : Circulation. 107, 8, p. 1117-1122 6 p.

Research output: Contribution to journalArticle

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene

Fichera, M., Silengo, M., Spalletta, A., Giudice, M. L., Romano, C. & Ragusa, A., 2001, In : Prenatal Diagnosis. 21, 9, p. 747-751 5 p.

Research output: Contribution to journalArticle