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Melissa Barghigiani

  • 4 Citations
  • 2 h-Index
20182019
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Fingerprint Dive into the research topics where Melissa Barghigiani is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 19 Similar Profiles
Cerebellar Ataxia Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Ataxia Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Spinocerebellar Ataxias Medicine & Life Sciences
Homozygote Medicine & Life Sciences
Heterozygote Medicine & Life Sciences

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Research Output 2018 2019

  • 4 Citations
  • 2 h-Index
  • 7 Article

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Nicita, F., Stregapede, F., Tessa, A., Bassi, M. T., Jezela-Stanek, A., Primiano, G., Pizzuti, A., Barghigiani, M., Nardella, M., Zanni, G., Servidei, S., Astrea, G., Panzeri, E., Maghini, C., Losito, L., Ploski, R., Gasperowicz, P., Santorelli, F. M., Bertini, E. & Travaglini, L., Jan 1 2019, In : Journal of Neurology.

Research output: Contribution to journal › Article

Hereditary Spastic Paraplegia
Mutation
Brain
Magnetic Resonance Imaging
Phenotype

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Nicita, F., Stregapede, F., Tessa, A., Bassi, M. T., Jezela-Stanek, A., Primiano, G., Pizzuti, A., Barghigiani, M., Nardella, M., Zanni, G., Servidei, S., Astrea, G., Panzeri, E., Maghini, C., Losito, L., Ploski, R., Gasperowicz, P., Santorelli, F. M., Bertini, E. & Travaglini, L., Jul 13 2019, In : Journal of Neurology.

Research output: Contribution to journal › Article

Hereditary Spastic Paraplegia
Mutation
Brain
Magnetic Resonance Imaging
Phenotype

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 journal › Article

Cerebellar Ataxia
Homozygote
Ataxia
Heterozygote
Italy
2 Citations (Scopus)

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

De Michele, G., Lieto, M., Galatolo, D., Salvatore, E., Cocozza, S., Barghigiani, M., Tessa, A., Baldacci, J., Pappatà, S., Filla, A., De Michele, G. & Santorelli, F. M., Aug 2019, In : Parkinsonism and Related Disorders. 65, p. 91-96 6 p.

Research output: Contribution to journal › Article

Spinocerebellar Ataxias
Ataxia
Psychiatry
Mutation
Exome

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 journal › Article

Spinocerebellar Ataxias
Phenotype
Cerebellar Ataxia
Mutation
Exome