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Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
De Filippi P, Errichiello E, Toscano A, Mongini T, Moggio M, Ravaglia S, Filosto M, Servidei S, Musumeci O, Giannini F, Piperno A, Siciliano G, Ricci G, Di Muzio A, Rigoldi M, Tonin P, Croce MG, Pegoraro E, Politano L, Maggi L, Telese R, Lerario A, Sancricca C, Vercelli L, Semplicini C, Pasanisi B, Bembi B, Dardis A, Palmieri I, Cereda C, Valente EM, Danesino C. De Filippi P, et al. Among authors: palmieri i. Curr Issues Mol Biol. 2023 Apr 1;45(4):2847-2860. doi: 10.3390/cimb45040186. Curr Issues Mol Biol. 2023. PMID: 37185710 Free PMC article.
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.
Petrucci S, Ginevrino M, Trezzi I, Monfrini E, Ricciardi L, Albanese A, Avenali M, Barone P, Bentivoglio AR, Bonifati V, Bove F, Bonanni L, Brusa L, Cereda C, Cossu G, Criscuolo C, Dati G, De Rosa A, Eleopra R, Fabbrini G, Fadda L, Garbellini M, Minafra B, Onofrj M, Pacchetti C, Palmieri I, Pellecchia MT, Petracca M, Picillo M, Pisani A, Vallelunga A, Zangaglia R, Di Fonzo A, Morgante F, Valente EM; ITA-GENE-PD Study Group. Petrucci S, et al. Among authors: palmieri i. Mov Disord. 2020 Nov;35(11):2106-2111. doi: 10.1002/mds.28195. Epub 2020 Jul 13. Mov Disord. 2020. PMID: 32658388
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Percetti M, Franco G, Monfrini E, Caporali L, Minardi R, La Morgia C, Valentino ML, Liguori R, Palmieri I, Ottaviani D, Vizziello M, Ronchi D, Di Berardino F, Cocco A, Macao B, Falkenberg M, Comi GP, Albanese A, Giometto B, Valente EM, Carelli V, Di Fonzo A. Percetti M, et al. Among authors: palmieri i. Mov Disord. 2022 Sep;37(9):1938-1943. doi: 10.1002/mds.29139. Epub 2022 Jul 6. Mov Disord. 2022. PMID: 35792653 Free PMC article.
Benign Hereditary Chorea as a Manifestation of HPCA Mutation.
Brunetti S, Micheletti S, Palmieri I, Valente EM, Fazzi E. Brunetti S, et al. Among authors: palmieri i. Mov Disord Clin Pract. 2022 Oct 10;10(1):130-134. doi: 10.1002/mdc3.13572. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36704070 Free PMC article. No abstract available.
46 results