| Q47692854 | A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene |
| Q35882878 | A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease |
| Q57305142 | A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus |
| Q48011436 | Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families. |
| Q34389352 | Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease |
| Q33929425 | Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study |
| Q41527046 | Clinical Aspects of CAG Repeat Diseases |
| Q34311084 | Clinical manifestations and gene mutation in a case of Machado-Joseph disease |
| Q24539225 | Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations |
| Q46569236 | Cognitive and social cognitive functioning in spinocerebellar ataxia : a preliminary characterization. |
| Q74127668 | Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients |
| Q41972075 | Different origins of mutations at the Machado-Joseph locus (MJD1) |
| Q71181753 | Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques |
| Q81665530 | Dominantly inherited ataxias. Part I |
| Q81665579 | Dominantly inherited ataxias. Part II |
| Q28279878 | Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo |
| Q57319085 | Gender equality in Machado–Joseph disease |
| Q57969483 | Gender equality in Machado–Joseph disease |
| Q54138495 | Genetic Fingerprinting Using Microsatellite Markers in a Multiplex PCR Reaction: A Compilation of Methodological Approaches from Primer Design to Detection Systems. |
| Q33879281 | HLA in the Azores Archipelago: possible presence of Mongoloid genes |
| Q37116529 | High relative frequency of SCA1 in Poland reflecting a potential founder effect. |
| Q24678584 | Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1 |
| Q42951044 | Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. |
| Q43104672 | Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon |
| Q57949895 | Machado-Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population |
| Q21202868 | Machado-Joseph Disease: from first descriptions to new perspectives. |
| Q28247538 | Machado-Joseph disease gene products carrying different carboxyl termini |
| Q43923064 | Machado-Joseph disease with retinal degeneration and dementia |
| Q36599588 | Machado-Joseph disease/spinocerebellar ataxia type 3. |
| Q58049134 | Machado–Joseph disease in three Scandinavian families |
| Q34388898 | Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. |
| Q35644427 | Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus |
| Q74485695 | Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family |
| Q48910063 | Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families |
| Q35881812 | Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis |
| Q48690513 | Parametric fMRI of paced motor responses uncovers novel whole-brain imaging biomarkers in spinocerebellar ataxia type 3. |
| Q77312901 | Phenotype variation correlates with CAG repeat length in SCA2--a study of 28 Japanese patients |
| Q35743563 | Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population |
| Q33735577 | Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation |
| Q35680075 | Repeat instability during DNA repair: Insights from model systems |
| Q44532923 | SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6. |
| Q31152886 | SCA3: neurological features, pathogenesis and animal models |
| Q74481409 | SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia |
| Q57950160 | Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype |
| Q52804580 | Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). |
| Q74181224 | Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes |
| Q51034618 | Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. |
| Q31127887 | Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein |
| Q39200544 | Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation |
| Q51897060 | Spinocerebellar ataxias type 1, 2 and 3: a study of heart rate variability. |
| Q48915184 | Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease |
| Q41456204 | The genetic defect causing Huntington's disease: repeated in other contexts? |
| Q36897398 | The inherited ataxias and the new genetics |
| Q35238524 | The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size |
| Q35837355 | Toward understanding Machado-Joseph disease |
| Q41527106 | Toward understanding the molecular pathology of Huntington's disease. |
| Q41527084 | Trinucleotide Repeat Instability: Genetic Features and Molecular Mechanisms |