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Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group. Di Fonzo A, et al. Among authors: palmieri i. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340
Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol.
Colucci F, Avenali M, De Micco R, Fusar Poli M, Cerri S, Stanziano M, Bacila A, Cuconato G, Franco V, Franciotta D, Ghezzi C, Gastaldi M, Elia AE, Romito L, Devigili G, Leta V, Garavaglia B, Golfrè Andreasi N, Cazzaniga F, Reale C, Galandra C, Germani G, Mitrotti P, Ongari G, Palmieri I, Picascia M, Pichiecchio A, Verri M, Esposito F, Cirillo M, Di Nardo F, Aloisio S, Siciliano M, Prioni S, Amami P, Piacentini S, Bruzzone MG, Grisoli M, Moda F, Eleopra R, Tessitore A, Valente EM, Cilia R. Colucci F, et al. Among authors: palmieri i. BMJ Neurol Open. 2023 Nov 24;5(2):e000535. doi: 10.1136/bmjno-2023-000535. eCollection 2023. BMJ Neurol Open. 2023. PMID: 38027469 Free PMC article.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: palmieri i. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort.
Avenali M, Zangaglia R, Cuconato G, Palmieri I, Albanese A, Artusi CA, Bozzali M, Calandra-Buonaura G, Cavallieri F, Cilia R, Cocco A, Cogiamanian F, Colucci F, Cortelli P, Di Fonzo A, Eleopra R, Giannini G, Imarisio A, Imbalzano G, Ledda C, Lopiano L, Malaguti MC, Mameli F, Minardi R, Mitrotti P, Monfrini E, Spagnolo F, Tassorelli C, Valentino F, Valzania F, Pacchetti C, Valente EM; PARKNET Study Group. Avenali M, et al. Among authors: palmieri i. J Neurol Neurosurg Psychiatry. 2024 Mar 13;95(4):309-315. doi: 10.1136/jnnp-2023-332387. J Neurol Neurosurg Psychiatry. 2024. PMID: 37879897 Free PMC article.
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.
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
Giardina E, Mandich P, Ghidoni R, Ticozzi N, Rossi G, Fenoglio C, Tiziano FD, Esposito F, Capellari S, Nacmias B, Mineri R, Campopiano R, Di Pilla L, Sammarone F, Zampatti S, Peconi C, De Angelis F, Palmieri I, Galandra C, Nicodemo E, Origone P, Gotta F, Ponti C, Nicsanu R, Benussi L, Peverelli S, Ratti A, Ricci M, Di Fede G, Magri S, Serpente M, Lattante S, Domi T, Carrera P, Saltimbanco E, Bagnoli S, Ingannato A, Albanese A, Tagliavini F, Lodi R, Caltagirone C, Gambardella S, Valente EM, Silani V. Giardina E, et al. Among authors: palmieri i. Front Neurol. 2024 Jan 31;15:1284459. doi: 10.3389/fneur.2024.1284459. eCollection 2024. Front Neurol. 2024. PMID: 38356886 Free PMC article.
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.
Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations.
De Michele G, Palmieri GR, Pane C, Valente EM, Palmieri I, Dello Iacovo CDP, Cuomo N, Giglio A, De Lucia N, Fico T, Perillo S, De Michele G, De Rosa A. De Michele G, et al. Among authors: palmieri i. Acta Neurol Belg. 2023 Feb;123(1):221-226. doi: 10.1007/s13760-022-02165-y. Epub 2023 Jan 7. Acta Neurol Belg. 2023. PMID: 36609835
17 results