P. Mendonça

发表

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

T. Gibson, M. Koenig, Mitsunori Watanabe, 2001, Nature Genetics.

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

J. Schulz, C. Shaw, L. Schöls, 2004, Nature Genetics.

A survey of spinocerebellar ataxia in South Brazil – 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease–causing mutations

R. Giugliani, I. Alonso, J. Sequeiros, 2001, Journal of Neurology.

Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado‐Joseph disease (SCA3) phenotype

R. Giugliani, J. Sequeiros, P. Mendonça, 2003, Acta neurologica Scandinavica.

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.

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

C. Kieling, M. Saraiva-Pereira, H. Wanderley, 2006, Clinical 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 .

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

P. Coutinho, J. Barros, J. Sequeiros, 2001, Archives of neurology.

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

M. Koenig, N. Tachi, P. Coutinho, 2001, American journal of human genetics.