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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 2
2004 3
2005 5
2006 3
2007 3
2008 2
2009 5
2010 11
2011 9
2012 14
2013 10
2014 8
2015 12
2016 9
2017 14
2018 9
2019 7
2020 11
2021 18
2022 11
2023 11
2024 4

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162 results

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Page 1
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: gualandi f. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Cardiac conduction disorders in young adults: Clinical characteristics and genetic background of an underestimated population.
Balla C, Margutti A, De Carolis B, Canovi L, Di Domenico A, Vivaldi I, Vitali F, De Raffele M, Malagù M, Sassone B, Biffi M, Selvatici R, Ferlini A, Gualandi F, Bertini M. Balla C, et al. Among authors: gualandi f. Heart Rhythm. 2024 Mar 10:S1547-5271(24)00243-1. doi: 10.1016/j.hrthm.2024.03.008. Online ahead of print. Heart Rhythm. 2024. PMID: 38467355 Free article.
Acute graft versus host disease 1976-2020: reduced incidence and predictive factors.
Di Francesco A, Raiola AM, Dominietto A, Di Grazia C, Gualandi F, Van Lint MT, Bregante S, Chiusolo P, Laurenti L, Sora F, Giammarco S, Metafuni E, Fresa A, Sica S, Angelucci E, Bacigalupo A. Di Francesco A, et al. Among authors: gualandi f. Front Med (Lausanne). 2024 Jan 24;10:1320692. doi: 10.3389/fmed.2023.1320692. eCollection 2023. Front Med (Lausanne). 2024. PMID: 38327272 Free PMC article.
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Tonelli L, Balla C, Farnè M, Margutti A, Maniscalchi ET, De Feo G, Di Domenico A, De Raffele M, Percesepe A, Uliana V, Barili V, Serra W, Sassone B, Virzì S, De Maria E, Parmeggiani G, Assenza GE, Biagini E, Parisi V, Biffi M, Carinci V, Perugini E, Imbrici P, Ferlini A, Bertini M, Selvatici R, Gualandi F. Tonelli L, et al. Among authors: gualandi f. J Cardiovasc Med (Hagerstown). 2023 Dec 1;24(12):864-870. doi: 10.2459/JCM.0000000000001560. Epub 2023 Oct 30. J Cardiovasc Med (Hagerstown). 2023. PMID: 37942788
Brugada Syndrome: More than a Monogenic Channelopathy.
Liantonio A, Bertini M, Mele A, Balla C, Dinoi G, Selvatici R, Mele M, De Luca A, Gualandi F, Imbrici P. Liantonio A, et al. Among authors: gualandi f. Biomedicines. 2023 Aug 18;11(8):2297. doi: 10.3390/biomedicines11082297. Biomedicines. 2023. PMID: 37626795 Free PMC article. Review.
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Fortunato F, Bianchi F, Ricci G, Torri F, Gualandi F, Neri M, Farnè M, Giannini F, Malandrini A, Volpi N, Lopergolo D, Silani V, Ticozzi N, Verde F, Pareyson D, Fenu S, Bonanno S, Nigro V, Peduto C, D'Ambrosio P, Zeuli R, Zanobio M, Picillo E, Servidei S, Primiano G, Sancricca C, Sciacco M, Brusa R, Filosto M, Cotti Piccinelli S, Pegoraro E, Mongini T, Solero L, Gadaleta G, Brusa C, Minetti C, Bruno C, Panicucci C, Sansone VA, Lunetta C, Zanolini A, Toscano A, Pugliese A, Nicocia G, Bertini E, Catteruccia M, Diodato D, Atalaia A, Evangelista T, Siciliano G, Ferlini A. Fortunato F, et al. Among authors: gualandi f. Orphanet J Rare Dis. 2023 Jul 21;18(1):196. doi: 10.1186/s13023-023-02776-5. Orphanet J Rare Dis. 2023. PMID: 37480080 Free PMC article.
Total Marrow Irradiation for Second Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Advanced Acute Leukemia.
Dominietto A, Vagge S, di Grazia C, Bregante S, Raiola AM, Varaldo R, Gualandi F, Gusinu M, Barra S, Agostinelli S, Angelucci E, Hui S. Dominietto A, et al. Among authors: gualandi f. Transplant Cell Ther. 2023 Aug;29(8):506.e1-506.e6. doi: 10.1016/j.jtct.2023.04.014. Epub 2023 Apr 23. Transplant Cell Ther. 2023. PMID: 37094701
162 results