• 988 Citations
  • 18 h-Index
19992019
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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
Mutation Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Muscles Medicine & Life Sciences
Genes Medicine & Life Sciences
Facioscapulohumeral Muscular Dystrophy Medicine & Life Sciences
Limb-Girdle Muscular Dystrophies Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Congenital Structural Myopathies Medicine & Life Sciences

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Research Output 1999 2019

  • 988 Citations
  • 18 h-Index
  • 112 Article
  • 2 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
Filamins
Muscular Diseases
Mutation
Leg
Genetic Association Studies
Cross-Sectional Studies
Dystroglycans
Mutation
Congenital Myasthenic Syndromes

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study

Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I. & 15 othersPicillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A. & Santorelli, F. M., 2018, In : Orphanet Journal of Rare Diseases. 13

Research output: Contribution to journalArticle

Clinical and molecular consequences of exon 78 deletion in DMD gene

Traverso, M., Assereto, S., Baratto, S., Iacomino, M., Pedemonte, M., Diana, M. C., Ferretti, M., Broda, P., Minetti, C., Gazzerro, E., Madia, F., Bruno, C., Zara, F. & Fiorillo, C., Jun 2018, In : Journal of Human Genetics. 63, 6, p. 761-764 4 p.

Research output: Contribution to journalArticle

Exons
Reading Frames
Dystrophin
Genes
Phenotype

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