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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 15 Similar Profiles
Charcot-Marie-Tooth Disease Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Myelin P0 Protein Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences
Nonsense Codon Medicine & Life Sciences
Myelin Sheath Medicine & Life Sciences
Tooth Medicine & Life Sciences

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Research Output 2011 2019

  • 171 Citations
  • 8 h-Index
  • 16 Article

A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

Fratta, P., Ornaghi, F., Dati, G., Zambroni, D., Saveri, P., Belin, S., D'Adamo, P., Shy, M., Quattrini, A., Laura Feltri, M. & Wrabetz, L., Jan 1 2019, In : Human Molecular Genetics. 28, 1, p. 124-132 9 p.

Research output: Contribution to journalArticle

Myelin P0 Protein
Nonsense Codon
Phenotype
Membranes
Myelin Sheath
1 Citation (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
3 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

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
1 Citation (Scopus)

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

Juneja, M., Azmi, A., Baets, J., Roos, A., Jennings, M. J., Saveri, P., Pisciotta, C., Bernard-Marissal, N., Schneider, B. L., Verfaillie, C., Chrast, R., Seeman, P., Hahn, A. F., De Jonghe, P., Maudsley, S., Horvath, R., Pareyson, D. & Timmerman, V., Aug 1 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 8, p. 870-878 9 p.

Research output: Contribution to journalArticle

Guanidinoacetate N-Methyltransferase
Profilins
Charcot-Marie-Tooth Disease
Tooth
Motor Neurons