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314 results

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Page 1
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.
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 Free article.
Interaction between miR-142-3p and BDNF Val/Met Polymorphism Regulates Multiple Sclerosis Severity.
Dolcetti E, Musella A, Balletta S, Gilio L, Bruno A, Stampanoni Bassi M, Lauritano G, Buttari F, Fresegna D, Tartacca A, Mariani F, Palmerio F, Rovella V, Ferese R, Gambardella S, Giardina E, Finardi A, Furlan R, Mandolesi G, Centonze D, De Vito F. Dolcetti E, et al. Among authors: giardina e. Int J Mol Sci. 2024 May 11;25(10):5253. doi: 10.3390/ijms25105253. Int J Mol Sci. 2024. PMID: 38791290 Free PMC article.
An IL-5 Single-Nucleotide Polymorphism Influences Neuroinflammation and Prospective Disease Activity in Multiple Sclerosis.
Dolcetti E, Buttari F, Bruno A, Azzolini F, Gilio L, Borrelli A, Di Caprio V, Lauritano G, Galifi G, Gambardella S, Ferese R, Giardina E, Rovella V, Furlan R, Finardi A, Musella A, Balletta S, Mandolesi G, Centonze D, Stampanoni Bassi M. Dolcetti E, et al. Among authors: giardina e. Int J Mol Sci. 2024 Aug 22;25(16):9108. doi: 10.3390/ijms25169108. Int J Mol Sci. 2024. PMID: 39201794 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.
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Strafella C, Megalizzi D, Trastulli G, Proietti Piorgo E, Colantoni L, Tasca G, Monforte M, Zampatti S, Primiano G, Sancricca C, Bortolani S, Torchia E, Ravera B, Torri F, Gadaleta G, Risi B, Caria F, Gerardi F, Carraro E, Gioiosa V, Garibaldi M, Tufano L, Frezza E, Massa R, Caltagirone C, Pennisi EM, Petrucci A, Pane M, Frongia A, Gragnani F, Scutifero M, Mandich P, Grandis M, Maioli MA, Casali C, Manfroi E, Politano L, Passamano L, Petillo R, Rodolico C, Pugliese A, Previtali SC, Sansone V, Vercelli L, Mongini TE, Ricci G, Siciliano G, Filosto M, Ricci E, Cascella R, Giardina E; FSHD Italian Clinical Group. Strafella C, et al. Among authors: giardina e. Clin Epigenetics. 2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2. Clin Epigenetics. 2024. PMID: 39438900 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 Jul;106(1):13-26. doi: 10.1111/cge.14533. Epub 2024 Apr 29. Clin Genet. 2024. PMID: 38685133 Review.
314 results