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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma

Sponziello, M., Silvestri, G., Verrienti, A., Perna, A., Rosignolo, F., Brunelli, C., Pecce, V., Rossi, E. D., Lombardi, C. P., Durante, C., Filetti, S. & Fadda, G., Apr 26 2018, (Accepted/In press) In : Endocrine. p. 1-4 4 p.

Research output: Contribution to journalArticle

A unique case of multiphasic ADEM or what else?

Losavio, F. A., Mirabella, M., Tricoli, L., Silvestri, G., De Fino, C., Lucchini, M. & Nociti, V., Oct 2019, In : Multiple Sclerosis and Related Disorders. 35, p. 73-75 3 p.

Research output: Contribution to journalArticle

Clarification on Uveal Melanoma Associated With Myotonic Dystrophy

Silvestri, G., Rossi, S. & Perna, A., Dec 1 2018, In : JAMA Ophthalmology. 136, 12, p. 1426-1427 2 p.

Research output: Contribution to journalArticle

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

Rossi, S., Romano, A., Modoni, A., Perna, F., Rizzo, V., Santoro, M., Monforte, M., Pieroni, M., Luigetti, M., Pomponi, M. G. & Silvestri, G., 2018, In : European Neurology. 79, 3-4, p. 166-170 5 p.

Research output: Contribution to journalArticle

Dysregulation of circular RNAs in myotonic dystrophy type 1

Voellenkle, C., Perfetti, A., Carrara, M., Fuschi, P., Renna, L. V., Longo, M., Sain, S. B., Cardani, R., Valaperta, R., Silvestri, G., Legnini, I., Bozzoni, I., Furling, D., Gaetano, C., Falcone, G., Meola, G. & Martelli, F., Apr 2 2019, In : International Journal of Molecular Sciences. 20, 8, 1938.

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Open Access

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients

Santoro, M., Fontana, L., Maiorca, F., Centofanti, F., Massa, R., Silvestri, G., Novelli, G. & Botta, A., Mar 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 3, p. 917-924 8 p.

Research output: Contribution to journalArticle

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Bruno, I., Cereda, C., Dato, C., Iorio, G. D., Donadio, V., Felicori, M., Fini, N., Fiorillo, C., Gallone, S. & 33 others, Gemignani, F., Gigli, G. L., Graziano, C., Guerrini, R., Gurrieri, F., Kariminejad, A., Lieto, M., LourenCo, C. M., Malandrini, A., Mandich, P., Marcotulli, C., Mari, F., Massacesi, L., Melone, M. A. B., Mignarri, A., Milone, R., Musumeci, O., Pegoraro, E., Perna, A., Petrucci, A., Pini, A., Pochiero, F., Pons, M. R., Ricca, I., Rossi, S., Seri, M., Stanzial, F., Tinelli, F., Toscano, A., Valente, M., Federico, A., Rubegni, A. & Santorelli, F. M., Dec 4 2018, In : Frontiers in Neurology. 9, p. 981 1 p.

Research output: Contribution to journalArticle

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation

for the Care4Rare Canada Consortium and the SYNaPS Study Group, Aug 1 2019, In : Annals of Neurology. 86, 2, p. 225-240 16 p.

Research output: Contribution to journalArticle

Open Access

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

Mancini, C., Giorgio, E., Rubegni, A., Pradotto, L., Bagnoli, S., Rubino, E., Prontera, P., Cavalieri, S., Di Gregorio, E., Ferrero, M., Pozzi, E., Riberi, E., Ferrero, P., Nigro, P., Mauro, A., Zibetti, M., Tessa, A., Barghigiani, M., Antenora, A., Sirchia, F. & 7 others, Piacentini, S., Silvestri, G., De Michele, G., Filla, A., Orsi, L., Santorelli, F. M. & Brusco, A., Jan 2019, In : European Journal of Neurology. 26, 1, p. 80-86 7 p.

Research output: Contribution to journalArticle

Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study

Rossi, S., Della Marca, G., Ricci, M., Perna, A., Nicoletti, T. F., Brunetti, V., Meleo, E., Calvello, M., Petrucci, A., Antonini, G., Bucci, E., Licchelli, L., Sancricca, C., Massa, R., Rastelli, E., Botta, A., Di Muzio, A., Romano, S., Garibaldi, M. & Silvestri, G., Apr 15 2019, In : Journal of the Neurological Sciences. 399, p. 118-124 7 p.

Research output: Contribution to journalArticle

Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes

Santoro, M., Piacentini, R., Perna, A., Pisano, E., Severino, A., Modoni, A., Grassi, C. & Silvestri, G., Sep 1 2020, In : Neural Regeneration Research. 15, 9, p. 1757-1766 10 p.

Research output: Contribution to journalArticle

Open Access

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia

Perna, A., Masciullo, M., Modoni, A., Cellini, E., Parrini, E., Ricci, E., Donati, A. M. & Silvestri, G., Mar 1 2018, In : European Journal of Neurology. 25, 3, p. 602-605 4 p.

Research output: Contribution to journalArticle

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort

Monforte, M., Primiano, G., Silvestri, G., Mirabella, M., Luigetti, M., Cuccagna, C., Ricci, E., Servidei, S. & Tasca, G., Mar 1 2018, In : Journal of Neurology. 265, 3, p. 542-551 10 p.

Research output: Contribution to journalArticle