Sequeiros J - Search Results

1

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I. Matilla-Dueñas A, et al. Among authors: sequeiros j. Adv Exp Med Biol. 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. Adv Exp Med Biol. 2017. PMID: 29214587 Review.

2

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P. Alonso I, et al. Among authors: sequeiros j. Arch Neurol. 2003 Apr;60(4):610-4. doi: 10.1001/archneur.60.4.610. Arch Neurol. 2003. PMID: 12707077 Free article.

3

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.

Alonso I, Jardim LB, Artigalas O, Saraiva-Pereira ML, Matsuura T, Ashizawa T, Sequeiros J, Silveira I. Alonso I, et al. Among authors: sequeiros j. Neurology. 2006 May 23;66(10):1602-4. doi: 10.1212/01.wnl.0000216266.30177.bb. Neurology. 2006. PMID: 16717236 No abstract available.

4

Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant.

Alonso I, Marques JM, Sousa N, Sequeiros J, Olsson IA, Silveira I. Alonso I, et al. Among authors: sequeiros j. Neurobiol Aging. 2008 Nov;29(11):1733-43. doi: 10.1016/j.neurobiolaging.2007.04.005. Epub 2007 May 21. Neurobiol Aging. 2008. PMID: 17513018

5

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).

Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, Sequeiros J, Silveira I. Almeida T, et al. Among authors: sequeiros j. PLoS One. 2009;4(2):e4553. doi: 10.1371/journal.pone.0004553. Epub 2009 Feb 23. PLoS One. 2009. PMID: 19234597 Free PMC article.

6

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).

Ramos EM, Martins S, Alonso I, Emmel VE, Saraiva-Pereira ML, Jardim LB, Coutinho P, Sequeiros J, Silveira I. Ramos EM, et al. Among authors: sequeiros j. Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):524-531. doi: 10.1002/ajmg.b.31013. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19676102

7

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.

8

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.

Sequeiros J, Ramos EM, Cerqueira J, Costa MC, Sousa A, Pinto-Basto J, Alonso I. Sequeiros J, et al. Clin Genet. 2010 Oct;78(4):381-7. doi: 10.1111/j.1399-0004.2010.01388.x. Clin Genet. 2010. PMID: 20236117

9

Evidence of syntaxin 1A involvement in migraine susceptibility: a Portuguese study.

Lemos C, Pereira-Monteiro J, Mendonça D, Ramos EM, Barros J, Sequeiros J, Alonso I, Sousa A. Lemos C, et al. Among authors: sequeiros j. Arch Neurol. 2010 Apr;67(4):422-7. doi: 10.1001/archneurol.2010.37. Arch Neurol. 2010. PMID: 20385907

10

BDNF and CGRP interaction: implications in migraine susceptibility.

Lemos C, Mendonça D, Pereira-Monteiro J, Barros J, Sequeiros J, Alonso I, Sousa A. Lemos C, et al. Among authors: sequeiros j. Cephalalgia. 2010 Nov;30(11):1375-82. doi: 10.1177/0333102410368443. Epub 2010 May 10. Cephalalgia. 2010. PMID: 20959432

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