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

  • 42 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

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Research Output 2007 2019

  • 1017 Citations
  • 19 h-Index
  • 109 Article
  • 4 Letter
  • 1 Comment/debate
  • 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
Filamins
Muscular Diseases
Mutation
Leg

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

Filosto, M., Cotti Piccinelli, S., Ravaglia, S., Servidei, S., Moggio, M., Musumeci, O., Donati, M. A., Pegoraro, E., Di Muzio, A., Maggi, L., Tonin, P., Marrosu, G., Sancricca, C., Lerario, A., Sacchini, M., Semplicini, C., Bozzoni, V., Telese, R., Bonanno, S., Piras, R. & 10 others, Maioli, M. A., Ricci, G., Vercelli, L., Galvagni, A., Gallo Cassarino, S., Caria, F., Mongini, T., Siciliano, G., Padovani, A. & Toscano, A., Jan 1 2019, In : Advances in Therapy. 36, 5, p. 1177-1189

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Antibodies
Late Onset Disorders
Vital Capacity

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

Filosto, M., Cotti Piccinelli, S., Ravaglia, S., Servidei, S., Moggio, M., Musumeci, O., Donati, M. A., Pegoraro, E., Di Muzio, A., Maggi, L., Tonin, P., Marrosu, G., Sancricca, C., Lerario, A., Sacchini, M., Semplicini, C., Bozzoni, V., Telese, R., Bonanno, S., Piras, R. & 10 others, Maioli, M. A., Ricci, G., Vercelli, L., Galvagni, A., Gallo Cassarino, S., Caria, F., Mongini, T., Siciliano, G., Padovani, A. & Toscano, A., May 2019, In : Advances in Therapy. 36, 5, p. 1177-1189 13 p.

Research output: Contribution to journalArticle

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 others, Raimondi, 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

Mutation
Respiratory Insufficiency
Muscles
Connectin
Muscle Weakness