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Research Output 1985 2019

  • 112 Citations
  • 6 h-Index
  • 31 Article
  • 4 Letter
  • 1 Comment/debate
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Letter
2019

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

Gemelli, C., Prada, V., Fiorillo, C., Fabbri, S., Maggi, L., Geroldi, A., Gibertini, S., Mandich, P., Trevisan, L., Fossa, P., Tagliafico, A. S., Schenone, A. & Grandis, M., Mar 15 2019, In : Journal of the Neurological Sciences. 398, p. 75-78 4 p.

Research output: Contribution to journalLetter

Distal Myopathies
Filamins
Muscular Diseases
Mutation
Leg
2018
1 Citation (Scopus)

A novel prion protein gene-truncating mutation causing autonomic neuropathy and diarrhea

Bommarito, G., Cellerino, M., Prada, V., Venturi, C., Capellari, S., Cortelli, P., Mancardi, G. L., Parchi, P. & Schenone, A., Aug 1 2018, In : European Journal of Neurology. 25, 8, p. e91-e92

Research output: Contribution to journalLetter

2009
4 Citations (Scopus)

Friedreich's ataxia: A new mutation in two compound heterozygous siblings with unusual clinical onset

Lamba, L. D., Ciotti, P., Giribaldi, G., Di Maria, E., Varese, A., Di Stadio, M., Schenone, A., Mandich, P. & Bellone, E., Mar 1 2009, In : European Neurology. 61, 4, p. 240-243 4 p.

Research output: Contribution to journalLetter