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

Year Number of Results
2008 1
2010 1
2012 1
2013 2
2014 1
2015 5
2016 8
2017 7
2018 10
2019 10
2020 8
2021 12
2022 6
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67 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. 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.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Vecchia SD, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Vecchia SD, et al. Among authors: rubegni a. J Neurol. 2022 Jan;269(1):437-450. doi: 10.1007/s00415-021-10792-3. Epub 2021 Sep 6. J Neurol. 2022. PMID: 34487232
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.
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.
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: rubegni a. Muscle Nerve. 2021 Nov;64(5):567-575. doi: 10.1002/mus.27391. Epub 2021 Aug 26. Muscle Nerve. 2021. PMID: 34368974
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
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.
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. Neurol Genet. 2019 Aug 16;5(5):e352. doi: 10.1212/NXG.0000000000000352. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31517061 Free PMC article.
Neuroimaging patterns in paediatric onset hereditary spastic paraplegias.
Dosi C, Pasquariello R, Ticci C, Astrea G, Trovato R, Rubegni A, Tessa A, Cioni G, Santorelli FM, Battini R. Dosi C, et al. Among authors: rubegni a. J Neurol Sci. 2021 Jun 15;425:117441. doi: 10.1016/j.jns.2021.117441. Epub 2021 Apr 10. J Neurol Sci. 2021. PMID: 33866115
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Gotta F, Lamp M, Geroldi A, Trevisan L, Origone P, Fugazza G, Fabbri S, Nesti C, Rubegni A, Morani F, Santorelli FM, Bellone E, Mandich P. Gotta F, et al. Among authors: rubegni a. Ann Hum Genet. 2020 Sep;84(5):417-422. doi: 10.1111/ahg.12384. Epub 2020 Apr 12. Ann Hum Genet. 2020. PMID: 32281099
67 results