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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 38 Similar Profiles
Myasthenia Gravis Medicine & Life Sciences
Facioscapulohumeral Muscular Dystrophy Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscles Medicine & Life Sciences
Congenital Structural Myopathies Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2007 2019

  • 862 Citations
  • 19 h-Index
  • 104 Article
  • 4 Letter
  • 1 Review article

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

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Palmio, J., Leonard-Louis, S., Sacconi, S., Savarese, M., Penttilä, S., Semmler, A. L., Kress, W., Mozaffar, T., Lai, T., Stojkovic, T., Berardo, A., Reisin, R., Attarian, S., Urtizberea, A., Cobo, A. M., Maggi, L., Kurbatov, S., Nikitin, S., Milisenda, J. C., Fatehi, F. & 5 othersRaimondi, M., Silveira, F., Hackman, P., Claeys, K. G. & Udd, B., Jan 1 2019, (Accepted/In press) In : Journal of Neurology.

Research output: Contribution to journalArticle

Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate

Farinato, A., Altamura, C., Imbrici, P., Maggi, L., Bernasconi, P., Mantegazza, R., Pasquali, L., Siciliano, G., Lo Monaco, M., Vial, C., Sternberg, D., Carratù, M. R., Conte, D. & Desaphy, J. F., Mar 1 2019, In : Pharmacological Research. 141, p. 224-235 12 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Cross-Sectional Studies
Dystroglycans
Mutation
Congenital Myasthenic Syndromes

Copy number variants account for a tiny fraction of undiagnosed myopathic patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D’amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., De Bleecker, J., Peverelli, L., Moggio, M., Mercuri, E. & 13 othersToscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Nov 1 2018, In : Genes. 9, 11, 524.

Research output: Contribution to journalArticle

Genes
Muscles
Dystrophin
Comparative Genomic Hybridization
Muscular Diseases