Paula Coutinho

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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.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

N. Drouot, A. Durr, L. Schöls, 2009, Brain : a journal of neurology.

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

M. Hallett, K. Wessel, S. Subramony, 1997, Journal of the Neurological Sciences.

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.

Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal

R. Montiel, P. Maciel, P. Coutinho, 2006, Human Heredity.

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.

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

Í. Lopes-Cendes, S. Tsuji, A. Brice, 2001, American journal of human genetics.

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.