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

Year Number of Results
1993 1
2002 1
2003 1
2004 1
2005 1
2006 1
2007 3
2008 5
2010 2
2011 2
2012 1
2013 1
2015 2
2017 1
2020 1
2021 1
2022 2
2023 2
2024 0

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23 results

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Page 1
[Cerebellar hypoplasias].
Safronova MM, Barbot C, Resende Pereira J. Safronova MM, et al. Among authors: barbot c. Acta Med Port. 2010 Sep-Oct;23(5):841-52. Epub 2010 Oct 22. Acta Med Port. 2010. PMID: 21144325 Free article. Review. Portuguese.
Ataxia with Oculomotor Apraxia Type 1.
Coutinho P, Barbot C, Coutinho P. Coutinho P, et al. Among authors: barbot c. 2002 Jun 11 [updated 2015 Mar 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Jun 11 [updated 2015 Mar 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301629 Free Books & Documents. Review.
Congenital ataxia due to novel variant in ATP8A2.
Damásio J, Santos D, Morais S, Brás J, Guerreiro R, Sardoeira A, Cavaco S, Carrilho I, Barbot C, Barros J, Sequeiros J. Damásio J, et al. Among authors: barbot c. Clin Genet. 2021 Jul;100(1):79-83. doi: 10.1111/cge.13954. Epub 2021 Apr 22. Clin Genet. 2021. PMID: 33682124
Childhood-Onset Writer's Cramp in Hereditary Spastic Paraplegia Type 15.
Moura J, Sardoeira A, Oliveira J, Mendes A, Barros J, Sequeiros J, Barbot C, Damásio J. Moura J, et al. Among authors: barbot c. Can J Neurol Sci. 2023 May;50(3):469-471. doi: 10.1017/cjn.2022.59. Epub 2022 May 11. Can J Neurol Sci. 2023. PMID: 35538608 No abstract available.
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R. Bras J, et al. Among authors: barbot c. Am J Hum Genet. 2015 Mar 5;96(3):474-9. doi: 10.1016/j.ajhg.2015.01.005. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728773 Free PMC article.
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. Lee JE, et al. Among authors: barbot c. Nat Genet. 2012 Jan 15;44(2):193-9. doi: 10.1038/ng.1078. Nat Genet. 2012. PMID: 22246503 Free PMC article.
23 results