Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach

Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease–Associated Alleles Among Large Population-Based Cohorts

(2019) Sarah L. Gardiner et al.   JAMA Neurology

The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

(2018) Angela Rosenbohm et al.   JOURNAL OF NEUROLOGY

Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease

(2018) Marianthi Breza et al.   JOURNAL OF NEUROLOGY

Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region

(2018) C. Bertolin et al.   EUROPEAN JOURNAL OF NEUROLOGY

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

Spinobulbar muscular atrophy (Kennedy's disease): A rare diagnosis in the Greek population

(2015) Georgios Koutsis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy

(2015) Wang Ni et al.   PLoS One

Correlation of clinical and molecular features in spinal bulbar muscular atrophy

(2014) P. Fratta et al.   NEUROLOGY

High prevalence of Kennedy's disease in Western Finland - is the syndrome underdiagnosed?

(2010) B. Udd et al.   ACTA NEUROLOGICA SCANDINAVICA