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Research Output 2018 2019

2019

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 Receptors
mutations
disabilities
Brain Diseases
disorders

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 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

Acute Disseminated Encephalomyelitis
Brain Diseases
Dysarthria
Steroids
Demyelinating Diseases

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.

Research output: Contribution to journalArticle

Open Access
splicing
Myotonic Dystrophy
RNA
Muscle
RNA Splicing

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
Pyridoxal Phosphate
Polyneuropathies
Mutation
Optic Atrophy
Adenosine Triphosphate

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

Cerebellar Ataxia
Homozygote
Ataxia
Heterozygote
Italy

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

Myotonic Dystrophy
Noninvasive Ventilation
Cross-Sectional Studies
Respiratory Muscles
Muscles
2018

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

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

Primary Dysautonomias
Myotonic Dystrophy
Chromosomes, Human, Pair 3
Muscular Dystrophies
Peripheral Nervous System

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

Myotonic Dystrophy
Methylation
CpG Islands
Genes
Genetic Promoter Regions

Imaging Features of Varicella Zoster Virus Cranial Multiple Mononeuropathies

Luigetti, M., Nicoletti, T., Iorio, R., Papi, C., Riso, V., Lozupone, E. & Silvestri, G., Jul 1 2018, In : European Neurology. 79, 5-6, p. 315-316 2 p.

Research output: Contribution to journalComment/debate

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

Hereditary Spastic Paraplegia
Cross-Sectional Studies
Genes
Pyramidal Tracts
Mutation

Secondary hypokalemic periodic paralysis as a rare clinical presentation of Conn syndrome

Nicoletti, T., Modoni, A. & Silvestri, G., Nov 1 2018, In : Clinical Neurophysiology. 129, 11, p. 2505-2506 2 p.

Research output: Contribution to journalLetter

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

Hereditary Spastic Paraplegia
Spastic Paraparesis
Software Design
Methylenetetrahydrofolate Reductase (NADPH2)
Betaine

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

Nemaline Myopathies
Clinical Pathology
Muscles
Muscular Diseases
Referral and Consultation