Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

(2013) Karen N McFarland et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ATXN-2 CAG repeat expansions are interrupted in ALS patients

(2011) Lucia Corrado et al.   HUMAN GENETICS

Model Organisms Reveal Insight into Human Neurodegenerative Disease: Ataxin-2 Intermediate-Length Polyglutamine Expansions Are a Risk Factor for ALS

(2011) Nancy M. Bonini et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: A toxic RNA gain-of-function model

(2011) Misti White et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

(2011) K. Ishikawa et al.   NEUROLOGY

PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats

(2011) Zhenming Yu et al.   PLoS One

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

Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients

(2010) Hélio A.G. Teive et al.   MOVEMENT DISORDERS

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

(2010) Andrew C. Elden et al.   NATURE

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan

(2010) Haruya Sakai et al.   NEUROGENETICS

Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10

(2010) Misti C. White et al.   PLoS Genetics

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss

(2009) F Spaans et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)

(2009) Teresa Almeida et al.   PLoS One

Intrafamilial variability of Parkinson phenotype in SCAs: Novel cases due to SCA2 and SCA3 expansions

(2008) M.P. Socal et al.   PARKINSONISM & RELATED DISORDERS