Clinical and neuropathological features of ALS/FTD with TIA1 mutations

Sex differences in the prevalence of genetic mutations in FTD and ALS

(2017) Ashley F. Curtis et al.   NEUROLOGY

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

Mechanistic insights into mammalian stress granule dynamics

(2016) Marc D. Panas et al.   JOURNAL OF CELL BIOLOGY

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Biophysical characterization of organelle-based RNA/protein liquid phases using microfluidics

(2016) Nicole Taylor et al.   Soft Matter

Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization

(2015) Amandine Molliex et al.   CELL

Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins

(2015) Yuan Lin et al.   MOLECULAR CELL

Exome sequencing uncovers hidden pathways in familial and sporadic ALS

(2015) Conceição Bettencourt et al.   NATURE NEUROSCIENCE

Multisystem proteinopathy: Table

(2015) J. Paul Taylor   NEUROLOGY

Alterations in stress granule dynamics driven by TDP-43 and FUS: a link to pathological inclusions in ALS?

(2015) Anaïs Aulas et al.   Frontiers in Cellular Neuroscience

Welander Distal Myopathy Caused by an Ancient Founder Mutation inTIA1Associated with Perturbed Splicing

(2013) Joakim Klar et al.   HUMAN MUTATION

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

(2012) Heather Stewart et al.   ACTA NEUROPATHOLOGICA

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

(2012) Peter Hackman et al.   ANNALS OF NEUROLOGY

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

(2012) G.-Y. R. Hsiung et al.   BRAIN

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

(2012) J. S. Snowden et al.   BRAIN

C9orf72 repeat expansions in patients with ALS and FTD

(2012) Rosa Rademakers   LANCET NEUROLOGY

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

A yeast functional screen predicts new candidate ALS disease genes

(2011) J. Couthouis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue

(2010) Liqun Liu-Yesucevitz et al.   PLoS One

Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies

(2009) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS)

(2009) Kathryn Volkening et al.   BRAIN RESEARCH

TDP-43 is recruited to stress granules in conditions of oxidative insult

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY