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

An expansion in ALS genetics

(2010) Clotilde Lagier-Tourenne et al.   NATURE

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

(2010) Andrew C. Elden et al.   NATURE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

(2009) G. S. Pesiridis et al.   HUMAN MOLECULAR GENETICS

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

(2009) Lorenzo Nanetti et al.   JOURNAL OF NEUROLOGY

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management

(2008) Andrew Eisen et al.   Amyotrophic Lateral Sclerosis

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations

(2008) S. Cronin et al.   HUMAN MOLECULAR GENETICS

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

(2008) Huda Y. Zoghbi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE

Polyglutamine Genes Interact to Modulate the Severity and Progression of Neurodegeneration in Drosophila

(2008) Derek Lessing et al.   PLOS BIOLOGY