• 1301 Citations
  • 20 h-Index
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Fingerprint Dive into the research topics where Chiara Fiorillo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 32 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
Nemaline Myopathies Medicine & Life Sciences

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Research Output 1999 2019

  • 1301 Citations
  • 20 h-Index
  • 117 Article
  • 2 Letter
  • 1 Review article

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access
AMPA Receptors
Brain Diseases

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

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., Lindqvist, J., Claeys, K. G., Weis, J., Monforte, M., Tasca, G., Moggio, M., Figeac, N., Zammit, P. S., Jungbluth, H., Fiorillo, C., Vissing, J., Witting, N., Granzier, H., Zanoteli, E. & 3 others, Hardeman, E. C., Wallgren-Pettersson, C. & Ochala, J., Jan 1 2019, In : Acta Neuropathologica. 138, 3, p. 477-495

Research output: Contribution to journalArticle

Nemaline Myopathies
Nuclear Envelope
Cytoskeletal Proteins

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Scala, M., Brigati, G., Fiorillo, C., Nesti, C., Rubegni, A., Pedemonte, M., Bruno, C., Severino, M., Derchi, M., Minetti, C. & Santorelli, F. M., Aug 7 2019, In : Neurogenetics. 20, 3, p. 165-172 8 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Sensorineural Hearing Loss
Leigh Disease
Brain Diseases
Electron Transport
Distal Myopathies
Ubiquitin-Protein Ligases