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Page 1
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: barros j. Arch Neurol. 2001 Feb;58(2):201-5. doi: 10.1001/archneur.58.2.201. Arch Neurol. 2001. PMID: 11176957
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: barros j. Arch Neurol. 2001 Nov;58(11):1821-7. doi: 10.1001/archneur.58.11.1821. Arch Neurol. 2001. PMID: 11708990 Free article.
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: barros j. Arch Neurol. 2002 Apr;59(4):623-9. doi: 10.1001/archneur.59.4.623. Arch Neurol. 2002. PMID: 11939898
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
Costa MDC, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P. Costa MDC, et al. Among authors: barros j. J Hum Genet. 2006;51(8):645-651. doi: 10.1007/s10038-006-0001-9. Epub 2006 Jul 21. J Hum Genet. 2006. PMID: 16858508 Free PMC article.
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
Castro MJ, Stam AH, Lemos C, Barros J, Gouveia RG, Martins IP, Koenderink JB, Vanmolkot KRJ, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AMJM. Castro MJ, et al. Among authors: barros j. J Hum Genet. 2007;52(12):990-998. doi: 10.1007/s10038-007-0205-7. Epub 2007 Oct 19. J Hum Genet. 2007. PMID: 17952365
Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
Castro MJ, Nunes B, de Vries B, Lemos C, Vanmolkot KR, van den Heuvel JJ, Temudo T, Barros J, Sequeiros J, Frants RR, Koenderink JB, Pereira-Monteiro JM, van den Maagdenberg AM. Castro MJ, et al. Among authors: barros j. Clin Genet. 2008 Jan;73(1):37-43. doi: 10.1111/j.1399-0004.2007.00918.x. Epub 2007 Nov 19. Clin Genet. 2008. PMID: 18028456
704 results