Research output per year
Research output per year
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Dive into the research topics where Paola Mandich is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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RFC1 expansions are a common cause of idiopathic sensory neuropathy
Currò, R., Salvalaggio, A., Tozza, S., Gemelli, C., Dominik, N., Galassi Deforie, V., Magrinelli, F., Castellani, F., Vegezzi, E., Businaro, P., Callegari, I., Pichiecchio, A., Cosentino, G., Alfonsi, E., Marchioni, E., Colnaghi, S., Gana, S., Valente, E. M., Tassorelli, C., Efthymiou, S. & 21 others, , May 9 2021, (E-pub ahead of print) In: Brain : a journal of neurology.Research output: Contribution to journal › Article › peer-review
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The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment
Lanteri, P., Meola, I., Canosa, A., De Marco, G., Lomartire, A., Rinaudo, M. T., Albamonte, E., Sansone, V. A., Lunetta, C., Manera, U., Vasta, R., Moglia, C., Calvo, A., Origone, P., Chiò, A. & Mandich, P., 2021, (Accepted/In press) In: Neurobiology of Aging.Research output: Contribution to journal › Article › peer-review
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A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Gotta, F., Lamp, M., Geroldi, A., Trevisan, L., Origone, P., Fugazza, G., Fabbri, S., Nesti, C., Rubegni, A., Morani, F., Santorelli, F. M., Bellone, E. & Mandich, P., Jan 1 2020, (Accepted/In press) In: Annals of Human Genetics.Research output: Contribution to journal › Article › peer-review
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Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2
Geroldi, A., Prada, V., Veneri, F., Trevisan, L., Origone, P., Grandis, M., Schenone, A., Gemelli, C., Lanteri, P., Fossa, P., Mandich, P. & Bellone, E., Jun 1 2020, In: Journal of the Peripheral Nervous System. 25, 2, p. 102-106 5 p.Research output: Contribution to journal › Article › peer-review
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Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2: Journal of the Peripheral Nervous System
Geroldi, A., Prada, V., Veneri, F., Trevisan, L., Origone, P., Grandis, M., Schenone, A., Gemelli, C., Lanteri, P., Fossa, P., Mandich, P. & Bellone, E., 2020, In: J. Peripher. Nerv. Syst.. 25, 2, p. 102-106 5 p.Research output: Contribution to journal › Article › peer-review