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

Year Number of Results
2010 1
2012 1
2013 1
2014 1
2015 5
2016 7
2017 6
2018 9
2019 8
2020 7
2021 11
2022 6
2023 5
2024 1

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66 results

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Page 1
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: rubegni a. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
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. Among authors: rubegni a. 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: rubegni a. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
Partial Lipodystrophy and LMNA p.R545H Variant.
Magno S, Ceccarini G, Barison A, Fabiani I, Giacomina A, Gilio D, Pelosini C, Rubegni A, Emdin M, Gatti GL, Santorelli FM, Sessa MR, Santini F. Magno S, et al. Among authors: rubegni a. J Clin Med. 2021 Mar 9;10(5):1142. doi: 10.3390/jcm10051142. J Clin Med. 2021. PMID: 33803191 Free PMC article.
Relapsing-Remitting Course of Cystic Leukoencephalopathy.
Rubegni A, Ferrari AR, Pasquariello R, Canapicchi R, Santorelli FM, Nesti C. Rubegni A, et al. Pediatr Neurol. 2018 Dec;89:63-65. doi: 10.1016/j.pediatrneurol.2018.08.021. Epub 2018 Aug 24. Pediatr Neurol. 2018. PMID: 30340907 No abstract available.
The features of the m.10197G>A mtDNA mutation.
Severino M, Nesti C, Rubegni A, Tolomeo D, Santorelli FM. Severino M, et al. Among authors: rubegni a. J Neurol Sci. 2019 May 15;400:184-185. doi: 10.1016/j.jns.2019.04.005. Epub 2019 Apr 4. J Neurol Sci. 2019. PMID: 30978516 No abstract available.
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Ticci C, Sicca F, Ardissone A, Bertini E, Carelli V, Diodato D, Di Vito L, Filosto M, La Morgia C, Lamperti C, Martinelli D, Moroni I, Musumeci O, Orsucci D, Pancheri E, Peverelli L, Primiano G, Rubegni A, Servidei S, Siciliano G, Simoncini C, Tonin P, Toscano A, Mancuso M, Santorelli FM. Ticci C, et al. Among authors: rubegni a. Neurogenetics. 2020 Apr;21(2):87-96. doi: 10.1007/s10048-019-00601-5. Epub 2020 Jan 3. Neurogenetics. 2020. PMID: 31900734
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Ticci C, Nesti C, Rubegni A, Doccini S, Baldacci J, Dal Canto F, Ragni L, Cordelli DM, Donati MA, Santorelli FM. Ticci C, et al. Among authors: rubegni a. Clin Genet. 2022 Feb;101(2):260-264. doi: 10.1111/cge.14088. Epub 2021 Nov 22. Clin Genet. 2022. PMID: 34766628
66 results