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Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family.
Trinchillo A, Valente V, Esposito M, Migliaccio M, Iovino A, Picciocchi M, Cuomo N, Caccavale C, Nocerino C, De Rosa L, Salvatore E, Pierantoni GM, Menchise V, Paladino S, Criscuolo C. Trinchillo A, et al. Among authors: paladino s. Neurol Sci. 2024 Apr 12. doi: 10.1007/s10072-024-07500-0. Online ahead of print. Neurol Sci. 2024. PMID: 38607533
Chronic exposure to l-BMAA cyanotoxin induces cytoplasmic TDP-43 accumulation and glial activation, reproducing an amyotrophic lateral sclerosis-like phenotype in mice.
Anzilotti S, Valente V, Brancaccio P, Franco C, Casamassa A, Lombardi G, Palazzi A, Conte A, Paladino S, Canzoniero LMT, Annunziato L, Pierantoni GM, Pignataro G. Anzilotti S, et al. Among authors: paladino s. Biomed Pharmacother. 2023 Nov;167:115503. doi: 10.1016/j.biopha.2023.115503. Epub 2023 Sep 18. Biomed Pharmacother. 2023. PMID: 37729728 Free article.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F, Dell'Aquila M, Terracciano C, Franzese G, Gentile MT, Piluso G, Santoro C, Colavito D, Patanè A, De Blasiis P, Sampaolo S, Paladino S, Melone MAB. Napolitano F, et al. Among authors: paladino s. Genes (Basel). 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130. Genes (Basel). 2022. PMID: 35885913 Free PMC article.
Down Syndrome Fetal Fibroblasts Display Alterations of Endosomal Trafficking Possibly due to SYNJ1 Overexpression.
De Rosa L, Fasano D, Zerillo L, Valente V, Izzo A, Mollo N, Amodio G, Polishchuk E, Polishchuk R, Melone MAB, Criscuolo C, Conti A, Nitsch L, Remondelli P, Pierantoni GM, Paladino S. De Rosa L, et al. Among authors: paladino s. Front Genet. 2022 May 13;13:867989. doi: 10.3389/fgene.2022.867989. eCollection 2022. Front Genet. 2022. PMID: 35646085 Free PMC article.
103 results