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Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
JAMA Netw Open. 2020 May 1;3(5):e204040. doi: 10.1001/jamanetworkopen.2020.4040.
JAMA Netw Open. 2020.
PMID: 32356886
Free PMC article.
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R.
Scionti I, et al. Among authors: govi m.
Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019.
Am J Hum Genet. 2012.
PMID: 22482803
Free PMC article.
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Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R.
Ricci G, et al. Among authors: govi m.
Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11.
Brain. 2013.
PMID: 24030947
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. Among authors: govi m.
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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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. Among authors: govi m.
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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Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Nikolic A, Jones TI, Govi M, Mele F, Maranda L, Sera F, Ricci G, Ruggiero L, Vercelli L, Portaro S, Villa L, Fiorillo C, Maggi L, Santoro L, Antonini G, Filosto M, Moggio M, Angelini C, Pegoraro E, Berardinelli A, Maioli MA, D'Angelo G, Di Muzio A, Siciliano G, Tomelleri G, D'Esposito M, Della Ragione F, Brancaccio A, Piras R, Rodolico C, Mongini T, Magdinier F, Salsi V, Jones PL, Tupler R.
Nikolic A, et al. Among authors: govi m.
Int J Mol Sci. 2020 Apr 10;21(7):2635. doi: 10.3390/ijms21072635.
Int J Mol Sci. 2020.
PMID: 32290091
Free PMC article.
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A 5-year clinical follow-up study from the Italian National Registry for FSHD.
Vercelli L, Mele F, Ruggiero L, Sera F, Tripodi S, Ricci G, Vallarola A, Villa L, Govi M, Maranda L, Di Muzio A, Scarlato M, Bucci E, Maggi L, Rodolico C, Moggio M, Filosto M, Antonini G, Previtali S, Angelini C, Berardinelli A, Pegoraro E, Siciliano G, Tomelleri G, Santoro L, Mongini T, Tupler R.
Vercelli L, et al. Among authors: govi m.
J Neurol. 2021 Jan;268(1):356-366. doi: 10.1007/s00415-020-10144-7. Epub 2020 Aug 19.
J Neurol. 2021.
PMID: 32813049
Free PMC article.
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Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Ricci G, Mele F, Govi M, Ruggiero L, Sera F, Vercelli L, Bettio C, Santoro L, Mongini T, Villa L, Moggio M, Filosto M, Scarlato M, Previtali SC, Tripodi SM, Pegoraro E, Telese R, Di Muzio A, Rodolico C, Bucci E, Antonini G, D'Angelo MG, Berardinelli A, Maggi L, Piras R, Maioli MA, Siciliano G, Tomelleri G, Angelini C, Tupler R.
Ricci G, et al. Among authors: govi m.
Sci Rep. 2020 Dec 10;10(1):21648. doi: 10.1038/s41598-020-78578-7.
Sci Rep. 2020.
PMID: 33303865
Free PMC article.
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