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Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Dosi C, et al. Among authors: schenone a. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
Grandis M, Gulli R, Cassandrini D, Gazzerro E, Benedetti L, Narciso E, Nobbio L, Bruno C, Minetti C, Bellone E, Reni L, Mancardi GL, Mandich P, Schenone A. Grandis M, et al. Among authors: schenone a. Neurol Sci. 2010 Jun;31(3):377-80. doi: 10.1007/s10072-010-0248-y. Epub 2010 Mar 19. Neurol Sci. 2010. PMID: 20300792
Inherited neuropathies.
Schenone A, Nobbio L, Monti Bragadin M, Ursino G, Grandis M. Schenone A, et al. Curr Treat Options Neurol. 2011 Apr;13(2):160-79. doi: 10.1007/s11940-011-0115-z. Curr Treat Options Neurol. 2011. PMID: 21286948
Dysimmune mononeuropathies: A diagnosis not to be missed.
Garnero M, Martinoli C, Tagliafico A, Bignotti B, Benedetti L, Beronio A, Reni L, Grandis M, Mancardi GL, Schenone A. Garnero M, et al. Among authors: schenone a. Muscle Nerve. 2016 Dec;54(6):1145-1146. doi: 10.1002/mus.25219. Muscle Nerve. 2016. PMID: 27302096 No abstract available.
465 results