Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations

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

(2012) María García-Murias et al.   BRAIN

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

(2011) Hussein Daoud et al.   ARCHIVES OF NEUROLOGY

Effect of Unexpected Sequence Interruptions to Conventional PCR and Repeat Primed PCR in Myotonic Dystrophy Type 1 Testing

(2011) Jan Radvansky et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

(2011) Oliver W Quarrell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Repeat-Primed Polymerase Chain Reaction in Myotonic Dystrophy Type 2 Testing

(2011) Jan Radvansky et al.   Genetic Testing and Molecular Biomarkers

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

(2010) Jorge Sequeiros et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

(2010) Jorge Sequeiros et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

(2010) Claudia Braida et al.   HUMAN MOLECULAR GENETICS

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias

(2008) Sara Seneca et al.   EUROPEAN JOURNAL OF HUMAN GENETICS