Sequeiros J - Search Results

1

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: sequeiros j. Clin Genet. 2021 Jul;100(1):79-83. doi: 10.1111/cge.13954. Epub 2021 Apr 22. Clin Genet. 2021. PMID: 33682124

2

Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal).

Sousa A, Coelho T, Barros J, Sequeiros J. Sousa A, et al. Among authors: sequeiros j. Am J Med Genet. 1995 Dec 18;60(6):512-21. doi: 10.1002/ajmg.1320600606. Am J Med Genet. 1995. PMID: 8825887

3

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles.

Silveira I, Alonso I, Guimarães L, Mendonça P, Santos C, Maciel P, Fidalgo De Matos JM, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J. Silveira I, et al. Among authors: sequeiros j. Am J Hum Genet. 2000 Mar;66(3):830-40. doi: 10.1086/302827. Am J Hum Genet. 2000. PMID: 10712199 Free PMC article.

4

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.

Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonça P, Barros J, Coutinho P, Sequeiros J, Koenig M. Moreira MC, et al. Among authors: sequeiros j. Am J Hum Genet. 2001 Feb;68(2):501-8. doi: 10.1086/318191. Epub 2001 Jan 22. Am J Hum Genet. 2001. PMID: 11170899 Free PMC article.

5

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

Barbot C, Coutinho P, Chorão R, Ferreira C, Barros J, Fineza I, Dias K, Monteiro J, Guimarães A, Mendonça P, do Céu Moreira M, Sequeiros J. Barbot C, et al. Among authors: sequeiros j. Arch Neurol. 2001 Feb;58(2):201-5. doi: 10.1001/archneur.58.2.201. Arch Neurol. 2001. PMID: 11176957

6

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Mendonça P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M. Moreira MC, et al. Among authors: sequeiros j. Nat Genet. 2001 Oct;29(2):189-93. doi: 10.1038/ng1001-189. Nat Genet. 2001. PMID: 11586300

7

Improvement in the molecular diagnosis of Machado-Joseph disease.

Maciel P, Costa MC, Ferro A, Rousseau M, Santos CS, Gaspar C, Barros J, Rouleau GA, Coutinho P, Sequeiros J. Maciel P, et al. Among authors: sequeiros j. Arch Neurol. 2001 Nov;58(11):1821-7. doi: 10.1001/archneur.58.11.1821. Arch Neurol. 2001. PMID: 11708990 Free article.

8

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

Silveira I, Miranda C, Guimarães L, Moreira MC, Alonso I, Mendonça P, Ferro A, Pinto-Basto J, Coelho J, Ferreirinha F, Poirier J, Parreira E, Vale J, Januário C, Barbot C, Tuna A, Barros J, Koide R, Tsuji S, Holmes SE, Margolis RL, Jardim L, Pandolfo M, Coutinho P, Sequeiros J. Silveira I, et al. Among authors: sequeiros j. Arch Neurol. 2002 Apr;59(4):623-9. doi: 10.1001/archneur.59.4.623. Arch Neurol. 2002. PMID: 11939898

9

Inherited and acquired risk factors and their combined effects in pediatric stroke.

Barreirinho S, Ferro A, Santos M, Costa El, Pinto-Basto J, Sousa A, Sequeiros J, Maciel P, Barbot C, Barbot J. Barreirinho S, et al. Among authors: sequeiros j. Pediatr Neurol. 2003 Feb;28(2):134-8. doi: 10.1016/s0887-8994(02)00506-4. Pediatr Neurol. 2003. PMID: 12699865 Free article.

10

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.

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