1993 …2019

Research output per year

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Research Output

  • '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

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

    Research output: Contribution to journalArticle

    Open Access
  • Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

    Tolomeo, D., Rubegni, A., Severino, M., Pochiero, F., Bruno, C., Cassandrini, D., Madeo, A., Doccini, S., Pedemonte, M., Rossi, A., D'Amore, F., Donati, M. A., Di Rocco, M., Santorelli, F. M. & Nesti, C., 2019, In : Journal of the Neurological Sciences. 399, p. 69-75 7 p.

    Research output: Contribution to journalArticle

    Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

    on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

    Research output: Contribution to journalArticle