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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R, Incensi A, de Pasqua S, Mignani R, Fileccia E, Santostefano M, Biagini E, Rapezzi C, Palmieri S, Romani I, Borsini W, Burlina A, Bombardi R, Caprini M, Avoni P, Donadio V. Liguori R, et al. Among authors: fileccia e. PLoS One. 2017 Jul 3;12(7):e0180581. doi: 10.1371/journal.pone.0180581. eCollection 2017. PLoS One. 2017. PMID: 28672034 Free PMC article.
Diagnostic-prognostic value and electrophysiological correlates of CSF biomarkers of neurodegeneration and neuroinflammation in amyotrophic lateral sclerosis.
Abu-Rumeileh S, Vacchiano V, Zenesini C, Polischi B, de Pasqua S, Fileccia E, Mammana A, Di Stasi V, Capellari S, Salvi F, Liguori R, Parchi P; BoReALS. Abu-Rumeileh S, et al. Among authors: fileccia e. J Neurol. 2020 Jun;267(6):1699-1708. doi: 10.1007/s00415-020-09761-z. Epub 2020 Feb 25. J Neurol. 2020. PMID: 32100123
In Vivo Diagnosis of Synucleinopathies: A Comparative Study of Skin Biopsy and RT-QuIC.
Donadio V, Wang Z, Incensi A, Rizzo G, Fileccia E, Vacchiano V, Capellari S, Magnani M, Scaglione C, Stanzani Maserati M, Avoni P, Liguori R, Zou W. Donadio V, et al. Among authors: fileccia e. Neurology. 2021 May 18;96(20):e2513-e2524. doi: 10.1212/WNL.0000000000011935. Epub 2021 Apr 9. Neurology. 2021. PMID: 33837116 Free PMC article.
15 results