Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
2011 1
2013 1
2014 3
2015 1
2016 4
2017 4
2018 2
2019 2
2020 4
2021 3
2022 4
Text availability
Article attribute
Article type
Publication date

Search Results

25 results
Results by year
Filters applied: . Clear all
Page 1
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Among authors: micalizzi a. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
Nuovo S, Micalizzi A, D'Arrigo S, Ginevrino M, Biagini T, Mazza T, Valente EM. Nuovo S, et al. Among authors: micalizzi a. Eur J Hum Genet. 2018 Jul;26(7):928-929. doi: 10.1038/s41431-018-0158-7. Epub 2018 May 25. Eur J Hum Genet. 2018. PMID: 29795474 Free PMC article. No abstract available.
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F. Nuovo S, et al. Among authors: micalizzi a. Nephrol Dial Transplant. 2020 Jul 1;35(7):1195-1202. doi: 10.1093/ndt/gfy333. Nephrol Dial Transplant. 2020. PMID: 30403813 Free PMC article.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Contrò G, et al. Among authors: micalizzi a. Genes (Basel). 2021 Aug 5;12(8):1208. doi: 10.3390/genes12081208. Genes (Basel). 2021. PMID: 34440382 Free PMC article.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS).
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network, Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Among authors: micalizzi a. Brain. 2022 Jun 23:awac223. doi: 10.1093/brain/awac223. Online ahead of print. Brain. 2022. PMID: 35737950
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM. De Mori R, et al. Among authors: micalizzi a. Brain. 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247. Brain. 2019. PMID: 31412107 Free PMC article.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM. Romani M, et al. Among authors: micalizzi a. Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19. Hum Genet. 2015. PMID: 25407461 Free PMC article.
25 results