Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions

(2016) Rachel H Tan et al.   ANNALS OF NEUROLOGY

FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion

(2014) Dirk Bäumer et al.   ACTA NEUROPATHOLOGICA

Neuropathological Staging of Spinocerebellar Ataxia Type 2 by Semiquantitative 1C2-Positive Neuron Typing. Nuclear Translocation of Cytoplasmic 1C2 Underlies Disease Progression of Spinocerebellar Ataxia Type 2

(2014) Shigeru Koyano et al.   BRAIN PATHOLOGY

Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2ATXN2CAG Repeat Alleles

(2014) Annalese G. Neuenschwander et al.   JAMA Neurology

Criteria for the diagnosis of corticobasal degeneration

(2013) M. J. Armstrong et al.   NEUROLOGY

Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions

(2012) Michael P. Hart et al.   ACTA NEUROPATHOLOGICA

Spinocerebellar ataxia type 2 (SCA2) is associated with TDP-43 pathology

(2011) Yasuko Toyoshima et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

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

(2011) Zhenming Yu et al.   PLoS One

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

(2010) Andrew C. Elden et al.   NATURE