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Page 1
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: fattori f. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.
Baban A, Cicenia M, Magliozzi M, Parlapiano G, Cirillo M, Pascolini G, Fattori F, Gnazzo M, Bruno P, De Luca L, Di Chiara L, Francalanci P, Udd B, Secinaro A, Amodeo A, Bertini ES, Savarese M, Drago F, Novelli A. Baban A, et al. Among authors: fattori f. Front Cardiovasc Med. 2023 Jul 27;10:1210378. doi: 10.3389/fcvm.2023.1210378. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37576110 Free PMC article.
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.
De Rose DU, Ronci S, Caoci S, Maddaloni C, Diodato D, Catteruccia M, Fattori F, Bosco L, Pro S, Savarese I, Bersani I, Randi F, Trozzi M, Meucci D, Calzolari F, Salvatori G, Solinas A, Dotta A, Campi F. De Rose DU, et al. Among authors: fattori f. J Pers Med. 2023 May 6;13(5):798. doi: 10.3390/jpm13050798. J Pers Med. 2023. PMID: 37240968 Free PMC article. Review.
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
Baban A, Alesi V, Magliozzi M, Parlapiano G, Genovese S, Cicenia M, Loddo S, Lodato V, Di Chiara L, Fattori F, D'Amico A, Francalanci P, Amodeo A, Novelli A, Drago F. Baban A, et al. Among authors: fattori f. J Cardiovasc Dev Dis. 2022 Sep 30;9(10):332. doi: 10.3390/jcdd9100332. J Cardiovasc Dev Dis. 2022. PMID: 36286284 Free PMC article.
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Fusto A, et al. Among authors: fattori f. Acta Neuropathol Commun. 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. Acta Neuropathol Commun. 2022. PMID: 35428369 Free PMC article.
78 results