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Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Sci Rep. 2020 Dec 10;10(1):21648. doi: 10.1038/s41598-020-78578-7.
Sci Rep. 2020.
PMID: 33303865
Free PMC article.
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy.
Beretta-Piccoli M, Calanni L, Negro M, Ricci G, Bettio C, Barbero M, Berardinelli A, Siciliano G, Tupler R, Soldini E, Cescon C, D'Antona G.
Beretta-Piccoli M, et al. Among authors: bettio c.
Eur J Appl Physiol. 2021 Jun;121(6):1617-1629. doi: 10.1007/s00421-021-04650-3. Epub 2021 Mar 1.
Eur J Appl Physiol. 2021.
PMID: 33646424
Free PMC article.
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Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.
Di Feo MF, Bettio C, Salsi V, Bertucci E, Tupler R.
Di Feo MF, et al. Among authors: bettio c.
Health Sci Rep. 2022 Apr 20;5(3):e614. doi: 10.1002/hsr2.614. eCollection 2022 May.
Health Sci Rep. 2022.
PMID: 35509380
Free PMC article.
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The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease.
Bettio C, Salsi V, Orsini M, Calanchi E, Magnotta L, Gagliardelli L, Kinoshita J, Bergamaschi S, Tupler R.
Bettio C, et al.
Orphanet J Rare Dis. 2021 Nov 4;16(1):470. doi: 10.1186/s13023-021-02100-z.
Orphanet J Rare Dis. 2021.
PMID: 34736505
Free PMC article.
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Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
Bettio C, Banchelli F, Salsi V, Vicini R, Crisafulli O, Ruggiero L, Ricci G, Bucci E, Angelini C, Berardinelli A, Bonanno S, D'Angelo MG, Di Muzio A, Filosto M, Frezza E, Maggi L, Mongini T, Pegoraro E, Rodolico C, Scarlato M, Vattemi G, Velardo D, Tomelleri G, D'Amico R, D'Antona G, Tupler R.
Bettio C, et al.
BMC Musculoskelet Disord. 2024 Jan 5;25(1):35. doi: 10.1186/s12891-023-07150-x.
BMC Musculoskelet Disord. 2024.
PMID: 38183077
Free PMC article.
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