Search


Current filters:
Start a new search
Add filters:

Use filters to refine the search results.


Results 1-7 of 7 (Search time: 0.002 seconds).
  • previous
  • 1
  • next
Item hits:
Issue DateTitleAuthor(s)TypeAccess Type
Apr-2003Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large familyAlonso, I.; Barros, J.; Tuna, A.; Coelho, J.; Sequeira, J.; Silveira, I.; Coutinho, P.articleopenAccess
Jul-2006Cerebellar ataxia with spasmodic cough: a new form of dominant ataxiaCoutinho, P.; Cruz, V.; Tuna, A.; Silva, S.; Guimarães, J.articleopenAccess
Feb-2001Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.Moreira, M.; Barbot, C.; Tachi, N.; Kozuka, N.; Mendonça, P.; Barros, J.; Coutinho, P.; Sequeiros, J.; Koenig, M.articleopenAccess
1999Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias: Analysis of 106 Patients in 46 FamiliesCoutinho, P.; Barros, J.; Zemmouri, R.; Guimarães, J.; Alves, C.; Chorão, R.; Lourenço, E.; Ribeiro, P.; Loureiro, J.; Santos, J.; Hamri, A.; Paternotte, C.; Hazan, J.; Silva, M.; Prud'homme, F.; Grid, D.articleopenAccess
Mar-2000High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesSilveira, I.; Afonso, I.; Guimarães, L.; Mendonça, P.; Santos, C.; Maciel, P.; Matos, J.; Costa, M.; Barbot, C.; Tuna, A.; Barros, J.; Jardim, L.; Coutinho, P.; Sequeiros, J.articleopenAccess
Feb-2001Recessive 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.; Moreira, M.; Sequeiros, J.articleopenAccess
Nov-2001Improvement in the molecular diagnosis of Machado-Joseph diseaseMaciel, P.; Costa, M.; Ferro, A.; Rousseau, M.; Santos, C.; Gaspar, C.; Barros, J.; Rouleau, G.; Coutinho, P.; Sequeiros, J.articleopenAccess