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

Year Number of Results
2006 1
2009 4
2010 3
2011 7
2012 3
2013 3
2014 5
2015 9
2016 4
2017 4
2018 6
2019 9
2020 8
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53 results
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Page 1
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.
Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M. Barresi S, et al. Among authors: capuano a. Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31836334
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.
Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, Rios L, Castiglioni C, Barassi C, Battaglia D, Gambardella ML, Cantonetti L, Graziola F, Marras CE, Castelli E, Bertini E, Capuano A, Leuzzi V. Schirinzi T, et al. Among authors: capuano a. Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16. Parkinsonism Relat Disord. 2019. PMID: 30642806 Review.
ATP1A3-related epileptic encephalopathy responding to ketogenic diet.
Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A. Schirinzi T, et al. Among authors: capuano a. Brain Dev. 2018 May;40(5):433-438. doi: 10.1016/j.braindev.2018.01.002. Epub 2018 Feb 1. Brain Dev. 2018. PMID: 29395663
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.
Graziola F, Stregapede F, Travaglini L, Garone G, Verardo M, Bosco L, Pro S, Bertini E, Curatolo P, Vigevano F, Capuano A. Graziola F, et al. Among authors: capuano a. Parkinsonism Relat Disord. 2019 Apr;61:4-6. doi: 10.1016/j.parkreldis.2018.12.001. Epub 2018 Dec 7. Parkinsonism Relat Disord. 2019. PMID: 30579817 No abstract available.
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
Nicita F, Nardella M, Bellacchio E, Alfieri P, Terrone G, Piccini G, Graziola F, Pignata C, Capuano A, Bertini E, Zanni G. Nicita F, et al. Among authors: capuano a. Clin Genet. 2019 Aug;96(2):169-175. doi: 10.1111/cge.13562. Epub 2019 Jun 5. Clin Genet. 2019. PMID: 31066025
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Schirinzi T, Graziola F, Nicita F, Travaglini L, Stregapede F, Valeriani M, Curatolo P, Bertini E, Vigevano F, Capuano A. Schirinzi T, et al. Among authors: capuano a. Cerebellum. 2018 Aug;17(4):489-493. doi: 10.1007/s12311-018-0920-y. Cerebellum. 2018. PMID: 29397530
Prestatus and status dystonicus in children and adolescents.
Garone G, Graziola F, Nicita F, Frascarelli F, Randi F, Zazza M, Cantonetti L, Cossu S, Marras CE, Capuano A. Garone G, et al. Among authors: capuano a. Dev Med Child Neurol. 2020 Jun;62(6):742-749. doi: 10.1111/dmcn.14425. Epub 2019 Dec 13. Dev Med Child Neurol. 2020. PMID: 31837011
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Travaglini L, Nardella M, Bellacchio E, D'Amico A, Capuano A, Frusciante R, Di Capua M, Cusmai R, Barresi S, Morlino S, Fernández-Fernández JM, Trivisano M, Specchio N, Valeriani M, Vigevano F, Bertini E, Zanni G. Travaglini L, et al. Among authors: capuano a. Eur J Paediatr Neurol. 2017 May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30. Eur J Paediatr Neurol. 2017. PMID: 28007337
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M. Flex E, et al. Among authors: capuano a. Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666370 Free PMC article.
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
Graziola F, Garone G, Stregapede F, Bosco L, Vigevano F, Curatolo P, Bertini E, Travaglini L, Capuano A. Graziola F, et al. Among authors: capuano a. Front Genet. 2019 Oct 29;10:1026. doi: 10.3389/fgene.2019.01026. eCollection 2019. Front Genet. 2019. PMID: 31737037 Free PMC article.
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