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Year | Number of Results |
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2016 | 2 |
2020 | 1 |
2024 | 0 |
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Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy.
Eur J Paediatr Neurol. 2020 Jul;27:25-29. doi: 10.1016/j.ejpn.2020.05.006. Epub 2020 May 22.
Eur J Paediatr Neurol. 2020.
PMID: 32553920
Free PMC article.
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.
Ricci G, Ruggiero L, Vercelli L, Sera F, Nikolic A, Govi M, Mele F, Daolio J, Angelini C, Antonini G, Berardinelli A, Bucci E, Cao M, D'Amico MC, D'Angelo G, Di Muzio A, Filosto M, Maggi L, Moggio M, Mongini T, Morandi L, Pegoraro E, Rodolico C, Santoro L, Siciliano G, Tomelleri G, Villa L, Tupler R.
Ricci G, et al.
J Neurol. 2016 Jun;263(6):1204-14. doi: 10.1007/s00415-016-8123-2. Epub 2016 Apr 28.
J Neurol. 2016.
PMID: 27126453
Free PMC article.
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Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.
Nikolic A, Ricci G, Sera F, Bucci E, Govi M, Mele F, Rossi M, Ruggiero L, Vercelli L, Ravaglia S, Brisca G, Fiorillo C, Villa L, Maggi L, Cao M, D'Amico MC, Siciliano G, Antonini G, Santoro L, Mongini T, Moggio M, Morandi L, Pegoraro E, Angelini C, Di Muzio A, Rodolico C, Tomelleri G, Grazia D'Angelo M, Bruno C, Berardinelli A, Tupler R.
Nikolic A, et al.
BMJ Open. 2016 Jan 5;6(1):e007798. doi: 10.1136/bmjopen-2015-007798.
BMJ Open. 2016.
PMID: 26733561
Free PMC article.
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