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

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Research Output

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Previtali, S. C., Zhao, E., Lazarevic, D., Pipitone, G. B., Fabrizi, G. M., Manganelli, F., Mazzeo, A., Pareyson, D., Schenone, A., Taroni, F., Vita, G., Bellone, E., Ferrarini, M., Garibaldi, M., Magri, S., Padua, L., Pennisi, E., Pisciotta, C., Riva, N., Scaioli, V. & 11 others, Scarlato, M., Tozza, S., Geroldi, A., Jordanova, A., Ferrari, M., Molineris, I., Reilly, M. M., Comi, G., Carrera, P., Devoto, M. & Bolino, A., Oct 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 10, p. 1171-1179 9 p.

Research output: Contribution to journalArticle

  • From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

    Gatti, M., Magri, S., Nanetti, L., Sarto, E., Di Bella, D., Salsano, E., Pantaleoni, C., Mariotti, C. & Taroni, F., Nov 1 2019, In : American Journal of Medical Genetics, Part A. 179, 11, p. 2277-2283 7 p.

    Research output: Contribution to journalArticle

  • Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation

    Cazzato, D., Dalla Bella, E., Saveri, P., Taroni, F., Marucci, G. & Lauria, G., Jan 1 2019, (Accepted/In press) In : Neurological Sciences.

    Research output: Contribution to journalArticle

  • RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

    Mendes, M. I., Green, L. M. C., Bertini, E., Tonduti, D., Aiello, C., Smith, D., Salsano, E., Beerepoot, S., Hertecant, J., von Spiczak, S., Livingston, J. H., Emrick, L., Fraser, J., Russell, L., Bernard, G., Magri, S., Di Bella, D., Taroni, F., Koenig, M. K., Moroni, I. & 12 others, Cappuccio, G., Brunetti-Pierri, N., Rhee, J., Mendelsohn, B. A., Helbig, I., Helbig, K., Muhle, H., Ismayl, O., Vanderver, A. L., Salomons, G. S., van der Knaap, M. S. & Wolf, N. I., 2019, In : Annals of Clinical and Translational Neurology. 7, 1, p. 83-93 11 p.

    Research output: Contribution to journalArticle

    Open Access
  • Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy

    Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E. & Pareyson, D., Jan 2018, In : European Journal of Neurology. 25, 1, p. 154-163 10 p.

    Research output: Contribution to journalArticle