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.
- 12 Similar Profiles
Prealbumin
Medicine & Life Sciences
Amyotrophic Lateral Sclerosis
Medicine & Life Sciences
Mutation
Medicine & Life Sciences
Diagnostic Errors
Medicine & Life Sciences
Familial Amyloid Neuropathies
Medicine & Life Sciences
Genes
Medicine & Life Sciences
Nervous System Diseases
Medicine & Life Sciences
Early Diagnosis
Medicine & Life Sciences
Network
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Research Output 2018 2019
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy
Gemelli, C., Prada, V., Fiorillo, C., Fabbri, S., Maggi, L., Geroldi, A., Gibertini, S., Mandich, P., Trevisan, L., Fossa, P., Tagliafico, A. S., Schenone, A. & Grandis, M., Mar 15 2019, In : Journal of the Neurological Sciences. 398, p. 75-78 4 p.Research output: Contribution to journal › Letter
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"
Grandis, M., Geroldi, A., Gulli, R., Manganelli, F., Gotta, F., Lamp, M., Origone, P., Trevisan, L., Gemelli, C., Fabbri, S., Schenone, A., Tozza, S., Santoro, L., Bellone, E. & Mandich, P., Oct 4 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 177.Research output: Contribution to journal › Article
Prealbumin
Diagnostic Errors
Familial Amyloid Neuropathies
Nervous System Diseases
Early Diagnosis
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Bruno, I., Cereda, C., Dato, C., Di Iorio, G., Donadio, V., Felicori, M., Fini, N., Fiorillo, C., Gallone, S. & 33 others , 2018, In : Frontiers in Neurology. 9, p. 981Research output: Contribution to journal › Article
Twenty years of molecular analyses in amyotrophic lateral sclerosis: Genetic landscape of Italian patients
Lamp, M., Origone, P., Geroldi, A., Verdiani, S., Gotta, F., Caponnetto, C., Devigili, G., Verriello, L., Scialò, C., Cabona, C., Canosa, A., Vanni, I., Bellone, E., Eleopra, R. & Mandich, P., Jan 1 2018, (Accepted/In press) In : Neurobiology of Aging.Research output: Contribution to journal › Article
Amyotrophic Lateral Sclerosis
Mutation
Genes
Neurodegenerative Diseases
Counseling