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Fingerprint Dive into the research topics where Gabriella Silvestri is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 16 Similar Profiles
Myotonic Dystrophy Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Mutation Medicine & Life Sciences
Cerebellar Ataxia Medicine & Life Sciences
Nemaline Myopathies Medicine & Life Sciences
Polyneuropathies Medicine & Life Sciences
Primary Dysautonomias Medicine & Life Sciences
Spinocerebellar Ataxias Medicine & Life Sciences

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Research Output 2018 2019

  • 8 Citations
  • 1 h-Index
  • 12 Article
  • 1 Comment/debate
  • 1 Letter
1 Citation (Scopus)

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
1 Citation (Scopus)

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
1 Citation (Scopus)

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

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

Lieto, M., Riso, V., Galatolo, D., De Michele, G., Rossi, S., Barghigiani, M., Cocozza, S., Pontillo, G., Trovato, R., Saccà, F., Salvatore, E., Tessa, A., Filla, A., Santorelli, F. M., De Michele, G. & Silvestri, G., Jan 1 2019, (Accepted/In press) In : European Journal of Neurology.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Phenotype
Cerebellar Ataxia
Mutation
Exome