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Page 1
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Among authors: villa l. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy.
Gros M, Nunes AM, Daoudlarian D, Pini J, Martinuzzi E, Barbosa S, Ramirez M, Puma A, Villa L, Cavalli M, Grecu N, Garcia J, Siciliano G, Solé G, Juntas-Morales R, Jones PL, Jones T, Glaichenhaus N, Sacconi S. Gros M, et al. Among authors: villa l. J Neuromuscul Dis. 2022;9(1):83-93. doi: 10.3233/JND-210711. J Neuromuscul Dis. 2022. PMID: 34459413 Free PMC article.
Motor axonal neuropathy associated with GNE mutations.
Grecu N, Villa L, Cavalli M, Ristaino A, Choumert A, Butori C, Salviati L, Puma A, Krahn M, Cerino M, Sacconi S. Grecu N, et al. Among authors: villa l. Muscle Nerve. 2021 Mar;63(3):396-401. doi: 10.1002/mus.27102. Epub 2020 Dec 24. Muscle Nerve. 2021. PMID: 33094863
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: villa l. Int J Mol Sci. 2020 Apr 10;21(7):2635. doi: 10.3390/ijms21072635. Int J Mol Sci. 2020. PMID: 32290091 Free PMC article.
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: villa l. BMJ Open. 2016 Jan 5;6(1):e007798. doi: 10.1136/bmjopen-2015-007798. BMJ Open. 2016. PMID: 26733561 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. Among authors: villa l. 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.
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
Ruggiero L, Mele F, Manganelli F, Bruzzese D, Ricci G, Vercelli L, Govi M, Vallarola A, Tripodi S, Villa L, Di Muzio A, Scarlato M, Bucci E, Antonini G, Maggi L, Rodolico C, Tomelleri G, Filosto M, Previtali S, Angelini C, Berardinelli A, Pegoraro E, Moggio M, Mongini T, Siciliano G, Santoro L, Tupler R. Ruggiero L, et al. Among authors: villa l. JAMA Netw Open. 2020 May 1;3(5):e204040. doi: 10.1001/jamanetworkopen.2020.4040. JAMA Netw Open. 2020. PMID: 32356886 Free PMC article.
1,180 results