Research Output per year
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
Network
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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 journal › Article
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 journal › Article
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 journal › Article
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 journal › Article
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 journal › Article
Guanidinoacetate N-Methyltransferase
Profilins
Charcot-Marie-Tooth Disease
Tooth
Motor Neurons