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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2004 1
2006 8
2007 3
2008 2
2009 3
2010 2
2011 6
2012 4
2013 5
2014 3
2015 4
2016 4
2017 3
2018 1
2019 3
2020 5
2021 5
2022 2
2023 2
2024 0

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59 results

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Page 1
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
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: cassandrini d. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies.
Mauri E, Piga D, Govoni A, Brusa R, Pagliarani S, Ripolone M, Dilena R, Cinnante C, Sciacco M, Cassandrini D, Nigro V, Bresolin N, Corti S, Comi GP, Magri F. Mauri E, et al. Among authors: cassandrini d. Front Neurol. 2021 Jun 28;12:664618. doi: 10.3389/fneur.2021.664618. eCollection 2021. Front Neurol. 2021. PMID: 34262519 Free PMC article.
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.
Mauri E, Piga D, Pagliarani S, Magri F, Manini A, Sciacco M, Ripolone M, Napoli L, Borellini L, Cinnante C, Cassandrini D, Corti S, Bresolin N, Comi GP, Govoni A. Mauri E, et al. Among authors: cassandrini d. J Neurol Sci. 2021 Dec 15;431:120047. doi: 10.1016/j.jns.2021.120047. Epub 2021 Nov 3. J Neurol Sci. 2021. PMID: 34763287 No abstract available.
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Ticci C, Cassandrini D, Rubegni A, Riva B, Vattemi G, Matà S, Ricci G, Baldacci J, Guglielmi V, Di Muzio A, Malandrini A, Tonin P, Siciliano G, Federico A, Genazzani AA, Santorelli FM, Merlini L. Ticci C, et al. Among authors: cassandrini d. Muscle Nerve. 2021 Nov;64(5):567-575. doi: 10.1002/mus.27391. Epub 2021 Aug 26. Muscle Nerve. 2021. PMID: 34368974
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D. Rubegni A, et al. Among authors: cassandrini d. Neurol Genet. 2019 Aug 16;5(5):e352. doi: 10.1212/NXG.0000000000000352. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31517061 Free PMC article.
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Carrozzo R, et al. Among authors: cassandrini d. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. doi: 10.1002/ajmg.a.32298. Am J Med Genet A. 2008. PMID: 18536048
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Marinella G, Astrea G, Buchignani B, Cassandrini D, Doccini S, Filosto M, Galatolo D, Gallone S, Giannini F, Lopergolo D, Maioli MA, Magri F, Malandrini A, Mandich P, Mari F, Massa R, Mata S, Melani F, Moggio M, Mongini TE, Pasquariello R, Pegoraro E, Ricci F, Ricci G, Rodolico C, Rubegni A, Siciliano G, Sperti M, Ticci C, Tonin P, Santorelli FM, Battini R. Marinella G, et al. Among authors: cassandrini d. Int J Mol Sci. 2022 Nov 23;23(23):14567. doi: 10.3390/ijms232314567. Int J Mol Sci. 2022. PMID: 36498898 Free PMC article.
Clinical and genetic characterization of Chanarin-Dorfman syndrome.
Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D'Amico A, Trucco F, Arca M, Casali C, Angelini C, Dimauro S, Minetti C. Bruno C, et al. Among authors: cassandrini d. Biochem Biophys Res Commun. 2008 May 16;369(4):1125-8. doi: 10.1016/j.bbrc.2008.03.010. Epub 2008 Mar 11. Biochem Biophys Res Commun. 2008. PMID: 18339307
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Fusto A, et al. Among authors: cassandrini d. Acta Neuropathol Commun. 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. Acta Neuropathol Commun. 2022. PMID: 35428369 Free PMC article.
59 results