19992020

Research output per year

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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.

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Research Output

Distal motor neuropathy associated with novel EMILIN1 mutation

Iacomino, M., Doliana, R., Marchese, M., Capuano, A., Striano, P., Spessotto, P., Bosisio, G., Iodice, R., Manganelli, F., Lanteri, P., Orsini, A., Baldassari, S., Baratto, S., Fruscione, F., Prada, V., Broda, P., Tessa, A., Bertocci, G., Schenone, A., Colombatti, A. & 4 others, Minetti, C., Santorelli, F. M., Zara, F. & Fiorillo, C., Apr 2020, In : Neurobiology of Disease. 137, 104757.

Research output: Contribution to journalArticle

Open Access
  • Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

    Marchet, S., Invernizzi, F., Blasevich, F., Bruno, V., Dusi, S., Venco, P., Fiorillo, C., Baranello, G., Pallotti, F., Lamantea, E., Mora, M., Tiranti, V. & Lamperti, C., Jul 2019, In : Mitochondrion. 47, p. 24-29 6 p.

    Research output: Contribution to journalArticle

  • 'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

    D'Amico, A., Fattori, F., Fiorillo, C., Paglietti, M. G., Testa, M. B. C., Verardo, M., Catteruccia, M., Bruno, C. & Bertini, E., Oct 2019, In : Neuromuscular Disorders. 29, 10, p. 766-770 5 p.

    Research output: Contribution to journalArticle

  • AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    SKABAR ALDO, 2019, In : Nature Communications. 10, 1

    Research output: Contribution to journalArticle