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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.

  • 8 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Friedreich Ataxia Medicine & Life Sciences
Carnitine O-Palmitoyltransferase Medicine & Life Sciences
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Charcot-Marie-Tooth Disease Medicine & Life Sciences
CADASIL Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1984 2019

  • 6093 Citations
  • 46 h-Index
  • 184 Article
  • 2 Letter
  • 2 Review article
  • 1 Chapter

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

Charcot-Marie-Tooth Disease
Genes
Exome
Phenotype
Neuromuscular Diseases

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

DiFrancesco, J. C., Castellotti, B., Milanesi, R., Ragona, F., Freri, E., Canafoglia, L., Franceschetti, S., Ferrarese, C., Magri, S., Taroni, F., Costa, C., Labate, A., Gambardella, A., Solazzi, R., Binda, A., Rivolta, I., Di Gennaro, G., Casciato, S., D'Incerti, L., Barbuti, A. & 3 others, DiFrancesco, D., Granata, T. & Gellera, C., Jul 2019, In : Epilepsy Research. 153, p. 49-58 10 p.

Research output: Contribution to journalReview article

2 Citations (Scopus)

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

Prealbumin
Cardiomyopathies
Mutation
Genes
Familial Amyloid Neuropathies

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

Muscles
Distal Myopathies
Small Heat-Shock Proteins
Charcot-Marie-Tooth Disease
Biopsy
6 Citations (Scopus)

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 1 2018, In : European Journal of Neurology. 25, 1, p. 154-163 10 p.

Research output: Contribution to journalArticle

Muscles
Distal Myopathies
Small Heat-Shock Proteins
Charcot-Marie-Tooth Disease
Biopsy