Chaves J - Search Results

1

Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.

Chaves J, Beirão I, Balreira A, Gaspar P, Caiola D, Sá-Miranda MC, Lima JL. Chaves J, et al. Seizure. 2011 Nov;20(9):738-40. doi: 10.1016/j.seizure.2011.06.018. Epub 2011 Jul 22. Seizure. 2011. PMID: 21782476 Free article.

2

Eyelid opening apraxia in an AIDS patient.

Santos E, Chaves J, Lima JL. Santos E, et al. Among authors: chaves j. Mov Disord. 2008 Feb 15;23(3):465-6. doi: 10.1002/mds.21858. Mov Disord. 2008. PMID: 18067181 No abstract available.

3

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.

Balreira A, Gaspar P, Caiola D, Chaves J, Beirão I, Lima JL, Azevedo JE, Miranda MC. Balreira A, et al. Among authors: chaves j. Hum Mol Genet. 2008 Jul 15;17(14):2238-43. doi: 10.1093/hmg/ddn124. Epub 2008 Apr 17. Hum Mol Genet. 2008. PMID: 18424452 Free article.

4

Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

Pinto E, Freitas J, Duarte AJ, Ribeiro I, Ribeiro D, Lima JL, Chaves J, Amaral O. Pinto E, et al. Among authors: chaves j. Epilepsy Res. 2012 Mar;99(1-2):187-90. doi: 10.1016/j.eplepsyres.2011.11.004. Epub 2011 Dec 10. Epilepsy Res. 2012. PMID: 22154554

5

Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism.

Moreira I, Bastos-Ferreira R, Silva J, Ribeiro C, Alonso I, Chaves J. Moreira I, et al. Among authors: chaves j. Seizure. 2015 Feb;25:62-4. doi: 10.1016/j.seizure.2014.12.005. Epub 2014 Dec 19. Seizure. 2015. PMID: 25645638 Free article. No abstract available.

6

Female preponderance in genetic generalized epilepsies.

Videira G, Gabriel D, Freitas J, Samões R, Chorão R, Lopes J, Ramalheira J, Lemos C, Leal B, da Silva AM, Chaves J. Videira G, et al. Among authors: chaves j. Seizure. 2021 Oct;91:167-171. doi: 10.1016/j.seizure.2021.06.014. Epub 2021 Jun 16. Seizure. 2021. PMID: 34171625 Free article.

7

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.

Matos L, Duarte AJ, Ribeiro D, Chaves J, Amaral O, Alves S. Matos L, et al. Among authors: chaves j. Genes (Basel). 2018 Sep 11;9(9):455. doi: 10.3390/genes9090455. Genes (Basel). 2018. PMID: 30208654 Free PMC article.

8

Two-year follow-up with eslicarbazepine acetate: a consecutive, retrospective, observational study.

Correia FD, Freitas J, Magalhães R, Lopes J, Ramalheira J, Lopes-Lima J, Chaves J. Correia FD, et al. Among authors: chaves j. Epilepsy Res. 2014 Oct;108(8):1399-405. doi: 10.1016/j.eplepsyres.2014.06.017. Epub 2014 Jul 6. Epilepsy Res. 2014. PMID: 25060997

9

Refractory epilepsy in Norrie disease.

Cação G, Garrido C, Miranda V, Pinto-Basto J, Chaves J, Chorão R. Cação G, et al. Among authors: chaves j. Neurol Sci. 2018 Sep;39(9):1631-1633. doi: 10.1007/s10072-018-3428-9. Epub 2018 May 3. Neurol Sci. 2018. PMID: 29725776 No abstract available.

10

Characterization of a rare Unverricht-Lundborg disease mutation.

Duarte AJ, Ribeiro D, Chaves J, Amaral O. Duarte AJ, et al. Among authors: chaves j. Mol Genet Metab Rep. 2015 Aug 5;4:68-71. doi: 10.1016/j.ymgmr.2015.07.005. eCollection 2015 Sep. Mol Genet Metab Rep. 2015. PMID: 26937413 Free PMC article.

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