I. Silveira

V. Emmel, M. Saraiva-Pereira, P. Coutinho, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

P. Coutinho, A. Sousa, I. Alonso, 2013, JAMA neurology.

The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment.

I. Alonso, I. Olsson, I. Silveira, 2009, Comparative medicine.

Depressive Symptoms in Machado-Joseph Disease (SCA3) Patients and Their Relatives

T. Carvalho, M. Saraiva-Pereira, J. Sequeiros, 2006, Public Health Genomics.

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients.

M. Calcagnotto, Í. Lopes-Cendes, G. Rouleau, 1997, Arquivos de neuro-psiquiatria.

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Í. Lopes-Cendes, L. Farrer, A. DeStefano, 1995, American journal of human genetics.

Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant

N. Sousa, I. Alonso, J. Sequeiros, 2008, Neurobiology of Aging.

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

Á. Carracedo, M. Sobrido, F. Rodríguez-Trelles, 2012, Brain : a journal of neurology.

Molecular Mechanisms in Pentanucleotide Repeat Diseases

A. S. Figueiredo, I. Silveira, A. F. Castro, 2022, Cells.

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Patrizia Rizzu, Ángel Carracedo, Peter Heutink, 2017, American journal of human genetics.

Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)

K. Ohno, A. Amorim, M. Saraiva-Pereira, 2009, PloS one.

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.

G. Stevanin, M. Barbosa, P. Coutinho, 2013, JAMA neurology.

Epidemiology and population genetics of degenerative ataxias.

J. Sequeiros, I. Silveira, S. Martins, 2012, Handbook of clinical neurology.

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

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

FXTAS, SCA10, and SCA17 in American patients with movement disorders

C. Ross, R. Margolis, F. Hisama, 2005, American journal of medical genetics. Part A.

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 .

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado‐joseph disease

Í. Lopes-Cendes, A. Koeppen, S. Kish, 1996, Annals of neurology.

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

G. Rouleau, P. Maciel, J. Guimarães, 1998, American journal of medical genetics.

A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array

C. Ross, R. Margolis, C. Callahan, 2006, Human Genetics.

A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

P. Coutinho, I. Alonso, J. Sequeiros, 2005, Journal of Human Genetics.

Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries

J. Bessa, I. Silveira, A. F. Castro, 2020, Genes.

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

P. Coutinho, I. Alonso, J. Barros, 2003, Archives of neurology.

Unstable repeat expansions in neurodegenerative diseases: nucleocytoplasmic transport emerges on the scene

I. Silveira, C. Oliveira, J. Loureiro, 2016, Neurobiology of Aging.

Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds.

P. Maciel, J. Guimarães, P. Coutinho, 1994, Genomics.

Loss of junctophilin‐3 contributes to huntington disease‐like 2 pathogenesis

Christopher A Ross, C. Ross, R. Margolis, 2012, Annals of neurology.

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution

P. Coutinho, J. Loureiro, J. Sequeiros, 2019, Human mutation.

Machado‐Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population

J. Sequeiros, P. Prestes, I. Silveira, 2007, Annals of human genetics.

Cis‐acting factors promoting the CAG intergenerational instability in Machado–Joseph disease

A. Amorim, P. Giunti, F. Calafell, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Use of fluoxetine for treatment of Machado‐Joseph disease: an open‐label study

A. Tort, J. Sequeiros, L. Jardim, 2003, Acta neurologica Scandinavica.

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles

P. Coutinho, J. Sequeiros, A. Seixas, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

R. Margolis, A. Fortuna, P. Coutinho, 2011, Behavioral and Brain Functions.

A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37

J. Sequeiros, I. Silveira, C. Oliveira, 2018, 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.

Fluorodopa and raclopride PET analysis of patients with Machado-Joseph disease

G. Rouleau, D. Calne, M. Schulzer, 1997, Neurology.

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

P. Heutink, G. Rouleau, P. Rizzu, 2017, American journal of human genetics.