1984 …2020

Research output per year

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Fingerprint Dive into the research topics where Sebastiano Antonino Musumeci is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset

Costanzo, M. C., Nicotera, A. G., Vinci, M., Vitello, A., Fiumara, A., Calì, F. & Musumeci, S. A., Dec 1 2020, In : Journal of Genetics. 99, 1, 30.

Research output: Contribution to journalArticle

  • EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study

    Nicotera, A. G., Hagerman, R. J., Catania, M. V., Buono, S., Di Nuovo, S., Liprino, E. M., Stracuzzi, E., Giusto, S., Di Vita, G. & Musumeci, S. A., Jan 1 2019, In : Journal of Autism and Developmental Disorders.

    Research output: Contribution to journalArticle

  • Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

    Cellini, E., Vetro, A., Conti, V., Marini, C., Doccini, V., Clementella, C., Parrini, E., Giglio, S., Della Monica, M., Fichera, M., Musumeci, S. A. & Guerrini, R., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  • Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis

    Vinci, M., Fichera, M., Musumeci, S. A., Cali, F. & Vitello, G. A., Dec 1 2018, In : Journal of Genetics. 97, 5, p. 1469-1472 4 p.

    Research output: Contribution to journalArticle