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309 results

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Page 1
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: giardina e. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A.
Mastrapasqua M, Rossi R, De Cosmo L, Resta A, Errede M, Bizzoca A, Zampatti S, Resta N, Giardina E, Ruggieri M, Virgintino D, Annese T, Laforgia N, Girolamo F. Mastrapasqua M, et al. Among authors: giardina e. Eur J Transl Myol. 2023 Jul 28;33(3):11501. doi: 10.4081/ejtm.2023.11501. Eur J Transl Myol. 2023. PMID: 37522802 Free PMC article.
Primary and Recall Immune Responses to SARS-CoV-2 in Breakthrough Infection.
D'Orso S, Pirronello M, Verdiani A, Rossini A, Guerrera G, Picozza M, Sambucci M, Misiti A, De Marco L, Salvia A, Caltagirone C, Giardina E, Battistini L, Borsellino G. D'Orso S, et al. Among authors: giardina e. Vaccines (Basel). 2023 Nov 9;11(11):1705. doi: 10.3390/vaccines11111705. Vaccines (Basel). 2023. PMID: 38006037 Free PMC article.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF. Giardina E, et al. Clin Genet. 2024 Apr 29. doi: 10.1111/cge.14533. Online ahead of print. Clin Genet. 2024. PMID: 38685133 Review.
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. Front Neurol. 2024 Jan 31;15:1284459. doi: 10.3389/fneur.2024.1284459. eCollection 2024. Front Neurol. 2024. PMID: 38356886 Free PMC article.
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Ferese R, Scala S, Suppa A, Campopiano R, Asci F, Zampogna A, Chiaravalloti MA, Griguoli A, Storto M, Pardo AD, Giardina E, Zampatti S, Fornai F, Novelli G, Fanelli M, Zecca C, Logroscino G, Centonze D, Gambardella S. Ferese R, et al. Among authors: giardina e. Front Neurol. 2023 Dec 7;14:1296924. doi: 10.3389/fneur.2023.1296924. eCollection 2023. Front Neurol. 2023. PMID: 38145127 Free PMC article.
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Strafella C, Colantoni L, Megalizzi D, Trastulli G, Piorgo EP, Primiano G, Sancricca C, Ricci G, Siciliano G, Caltagirone C, Filosto M, Tasca G, Ricci E, Cascella R, Giardina E. Strafella C, et al. Among authors: giardina e. Clin Genet. 2024 Mar;105(3):335-339. doi: 10.1111/cge.14466. Epub 2023 Dec 2. Clin Genet. 2024. PMID: 38041579
309 results