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Focus on Paediatric Restrictive Cardiomyopathy: Frequently Asked Questions.
Zampieri M, Di Filippo C, Zocchi C, Fico V, Golinelli C, Spaziani G, Calabri G, Bennati E, Girolami F, Marchi A, Passantino S, Porcedda G, Capponi G, Gozzini A, Olivotto I, Ragni L, Favilli S. Zampieri M, et al. Among authors: ragni l. Diagnostics (Basel). 2023 Dec 14;13(24):3666. doi: 10.3390/diagnostics13243666. Diagnostics (Basel). 2023. PMID: 38132249 Free PMC article. Review.
Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
Kaski JP, Norrish G, Gimeno Blanes JR, Charron P, Elliott P, Tavazzi L, Tendera M, Laroche C, Maggioni AP, Baban A, Khraiche D, Ziolkowska L, Limongelli G, Ojala T, Gorenflo M, Anastasakis A, Mostafa S, Caforio ALP; EORP Paediatric Cardiomyopathy Registry Investigators. Kaski JP, et al. Eur Heart J. 2024 Apr 21;45(16):1443-1454. doi: 10.1093/eurheartj/ehae109. Eur Heart J. 2024. PMID: 38427064
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C. Pettenuzzo I, et al. Among authors: ragni l. Eur J Hum Genet. 2024 May 3. doi: 10.1038/s41431-024-01615-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38702428
The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.
Vaisitti T, Peritore D, Magistroni P, Ricci A, Lombardini L, Gringeri E, Catalano S, Spada M, Sciveres M, Di Giorgio A, Limongelli G, Varrenti M, Gerosa G, Terzi A, Pace Napoleone C, Amodeo A, Ragni L, Dello Strologo L, Benetti E, Fontana I, Testa S, Peruzzi L, Mitrotti A, Abbate S, Comai G, Gotti E, Schiavon M, Boffini M, De Angelis D, Bertani A, Pinelli D, Torre M, Poggi C, Deaglio S, Cardillo M, Amoroso A; Italian Pediatric Transplant Centers. Vaisitti T, et al. Among authors: ragni l. Orphanet J Rare Dis. 2021 Sep 4;16(1):374. doi: 10.1186/s13023-021-02013-x. Orphanet J Rare Dis. 2021. PMID: 34481500 Free PMC article.
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Ticci C, Nesti C, Rubegni A, Doccini S, Baldacci J, Dal Canto F, Ragni L, Cordelli DM, Donati MA, Santorelli FM. Ticci C, et al. Among authors: ragni l. Clin Genet. 2022 Feb;101(2):260-264. doi: 10.1111/cge.14088. Epub 2021 Nov 22. Clin Genet. 2022. PMID: 34766628
New clinical and molecular insights on Barth syndrome.
Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini R, Morrone A. Ferri L, et al. Among authors: ragni l. Orphanet J Rare Dis. 2013 Feb 14;8:27. doi: 10.1186/1750-1172-8-27. Orphanet J Rare Dis. 2013. PMID: 23409742 Free PMC article.
132 results