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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.

  • 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

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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 journalLetter

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 journalArticle

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 othersGemignani, F., Gigli, G. L., Graziano, C., Guerrini, R., Gurrieri, F., Kariminejad, A., Lieto, M., Marques LourenḈo, C., Malandrini, A., Mandich, P., Marcotulli, C., Mari, F., Massacesi, L., Melone, M. A. B., Mignarri, A., Milone, R., Musumeci, O., Pegoraro, E., Perna, A., Petrucci, A., Pini, A., Pochiero, F., Pons, M. R., Ricca, I., Rossi, S., Seri, M., Stanzial, F., Tinelli, F., Toscano, A., Valente, M., Federico, A., Rubegni, A. & Santorelli, F. M., 2018, In : Frontiers in Neurology. 9, p. 981

Research output: Contribution to journalArticle

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 journalArticle

Amyotrophic Lateral Sclerosis
Mutation
Genes
Neurodegenerative Diseases
Counseling