L. Guimarães

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

P. Maciel, P. Coutinho, I. Alonso, 2000, American journal of human genetics.

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract

Í. Lopes-Cendes, G. Rouleau, P. Maciel, 1999, European Journal of Human Genetics.

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

S. Tsuji, M. Pandolfo, R. Margolis, 2002, Archives of neurology.

Trinucleotide Repeats in 202 Families With Ataxia

J. Vale, J. Sequeiros, S. Tsuji, 2002 .

The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation

Jorge Sequeiros, P. Maciel, A. Sousa, 2006, Journal of Human Genetics.

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

C. Januário, P. Maciel, A. Sousa, 2003, European Journal of Human Genetics.

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin

J. Guimarães, P. Coutinho, J. Sequeiros, 2003, European Journal of Human Genetics.