Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients

Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?

(2015) Mafalda Raposo et al.   BRAIN

Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3

(2015) Gerson da Silva Carvalho et al.   CEREBELLUM

The Role of the Immune System in Triplet Repeat Expansion Diseases

(2015) Marta Olejniczak et al.   MEDIATORS OF INFLAMMATION

Novel candidate blood-based transcriptional biomarkers of machado-joseph disease

(2015) Mafalda Raposo et al.   MOVEMENT DISORDERS

Two Novel SNPs in ATXN3 3’ UTR May Decrease Age at Onset of SCA3/MJD in Chinese Patients

(2015) Zhe Long et al.   PLoS One

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

(2014) Sophie Tezenas du Montcel et al.   BRAIN

The APOE ε2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population

(2014) Huirong Peng et al.   NEUROBIOLOGY OF AGING

Ataxin-3 Protein and RNA Toxicity in Spinocerebellar Ataxia Type 3: Current Insights and Emerging Therapeutic Strategies

(2013) Melvin M. Evers et al.   MOLECULAR NEUROBIOLOGY

Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado–Joseph Disease

(2012) Marcondes C. França et al.   Frontiers in Neurology

The APOE ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease

(2011) Conceição Bettencourt   ARCHIVES OF NEUROLOGY

Cross-Talk between Apolipoprotein E and Cytokines

(2011) Hongliang Zhang et al.   MEDIATORS OF INFLAMMATION

Machado-Joseph Disease: from first descriptions to new perspectives

(2011) Conceição Bettencourt et al.   Orphanet Journal of Rare Diseases

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

(2011) M. Siebert et al.   PARKINSONISM & RELATED DISORDERS

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)

(2008) Conceição Bettencourt et al.   JOURNAL OF HUMAN GENETICS