If you made any changes in Pure these will be visible here soon.

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.

  • 41 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
Genes Medicine & Life Sciences
Congenital Structural Myopathies Medicine & Life Sciences
Phenotype Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2007 2019

  • 911 Citations
  • 19 h-Index
  • 107 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

Distal Myopathies
Muscular Diseases

Expanding the central nervous system disease spectrum associated with FLNC mutation

Previtali, S. C., Scarlato, M., Vezzulli, P., Ruggieri, A., Velardo, D., Benedetti, S., Torini, G., Colombo, B., Maggi, L., Di Bella, D., Gellera, C., D'Angelo, G. & Mora, M., Jan 1 2019, In : Muscle and Nerve.

Research output: Contribution to journalArticle

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

Respiratory Insufficiency
Muscle Weakness

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

Sodium Channels
Genetic Association Studies
Cross-Sectional Studies
Congenital Myasthenic Syndromes