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

Redefining cerebellar ataxia in degenerative ataxias: lessons from recent research on cerebellar systems

(2015) Masayoshi Tada et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions inAtaxin-2does not have 1C2-positive polyglutamine inclusions

(2015) John Robin Highley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

(2015) Jorge Gomez-Deza et al.   Acta Neuropathologica Communications

Epidemiological characteristics of motor neuron disease in Chinese patients

(2014) F. Cui et al.   ACTA NEUROLOGICA SCANDINAVICA

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May 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

Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS

(2014) Mai Yamakawa et al.   HUMAN MOLECULAR GENETICS

Patterns of cerebral and cerebellar white matter degeneration in ALS: Figure 1

(2014) P Bede et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

(2014) A. Chio et al.   NEUROLOGY

Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum

(2014) Rachel H. Tan et al.   PLoS One

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

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

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Deciphering amyotrophic lateral sclerosis: What phenotype, neuropathology and genetics are telling us about pathogenesis

(2013) John Ravits et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2013) David MA Mann et al.   Acta Neuropathologica Communications

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

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

In vivo and post-mortem memory circuit integrity in frontotemporal dementia and Alzheimer’s disease

(2012) Michael Hornberger et al.   BRAIN

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling

(2012) Cinzia Gellera et al.   NEUROBIOLOGY OF AGING

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts

(2012) C. Dobson-Stone et al.   NEUROLOGY

Grey and White Matter Changes across the Amyotrophic Lateral Sclerosis-Frontotemporal Dementia Continuum

(2012) Patricia Lillo et al.   PLoS One

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

(2011) Yasuko Toyoshima et al.   ACTA NEUROPATHOLOGICA

Progressive and widespread brain damage in ALS: MRI voxel-based morphometry and diffusion tensor imaging study

(2011) Joe Senda et al.   Amyotrophic Lateral Sclerosis

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

(2011) Hussein Daoud et al.   ARCHIVES OF NEUROLOGY

MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2

(2011) Brian C. Jung et al.   CEREBELLUM

Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications

(2011) José Miguel Laffita-Mesa et al.   HUMAN GENETICS

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

(2011) T. Lee et al.   HUMAN MOLECULAR GENETICS

Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis

(2011) YongPing Chen et al.   NEUROBIOLOGY OF AGING

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2

(2011) P. Van Damme et al.   NEUROLOGY

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

An MND/ALS phenotype associated withC9orf72repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

(2011) Claire Troakes et al.   NEUROPATHOLOGY

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

(2011) Zhenming Yu et al.   PLoS One

Spinocerebellar Ataxia Type 2 (SCA2): Identification of Early Brain Degeneration in One Monozygous Twin in the Initial Disease Stage

(2010) Franziska Hoche et al.   CEREBELLUM

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

(2010) Andrew C. Elden et al.   NATURE

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

Distinct and Overlapping Functional Zones in the Cerebellum Defined by Resting State Functional Connectivity

(2009) Jill X. O'Reilly et al.   CEREBRAL CORTEX

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM