Random forest modelling demonstrates microglial and protein misfolding features to be key phenotypic markers in C9orf72 ‐ALS

Neuropathological consensus criteria for the evaluation of Lewy pathology in post-mortem brains: a multi-centre study

(2021) Johannes Attems et al.   ACTA NEUROPATHOLOGICA

Automated and unbiased discrimination of ALS from control tissue at single cell resolution

(2021) Cathleen Hagemann et al.   BRAIN PATHOLOGY

Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients

(2021) Gabriel Pinilla et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation

(2021) Deepti Lall et al.   NEURON

RNA modulates physiological and neuropathological protein phase transitions

(2021) Jacob R. Mann et al.   NEURON

C9orf72-derived arginine-rich poly-dipeptides impede phase modifiers

(2021) Hitoki Nanaura et al.   Nature Communications

TREM2 interacts with TDP-43 and mediates microglial neuroprotection against TDP-43-related neurodegeneration

(2021) Manling Xie et al.   NATURE NEUROSCIENCE

Deep learning reveals disease-specific signatures of white matter pathology in tauopathies

(2021) Anthony R. Vega et al.   Acta Neuropathologica Communications

The clinical trial landscape in amyotrophic lateral sclerosis—Past, present, and future

(2020) Heike J. Wobst et al.   MEDICINAL RESEARCH REVIEWS

TDP-43: From Alzheimer’s Disease to Limbic-Predominant Age-Related TDP-43 Encephalopathy

(2020) Wendi Huang et al.   Frontiers in Molecular Neuroscience

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

(2020) Yevgeniya A. Abramzon et al.   Frontiers in Neuroscience

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention

(2020) Jack Humphrey et al.   NUCLEIC ACIDS RESEARCH

Dysregulation of RNA-Binding Proteins in Amyotrophic Lateral Sclerosis

(2020) Yuan Chao Xue et al.   Frontiers in Molecular Neuroscience

Glia Crosstalk in Neuroinflammatory Diseases

(2020) Ada Bernaus et al.   Frontiers in Cellular Neuroscience

TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS

(2020) Chien-Hsiung Yu et al.   CELL

C9orf72 in myeloid cells suppresses STING-induced inflammation

(2020) Madelyn E. McCauley et al.   NATURE

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

(2020) Casey N. Cook et al.   Science Translational Medicine

Modulation of β-Amyloid Fibril Formation in Alzheimer’s Disease by Microglia and Infection

(2020) Madeleine R. Brown et al.   Frontiers in Molecular Neuroscience

Clinical audit research and evaluation of motor neuron disease (CARE-MND): a national electronic platform for prospective, longitudinal monitoring of MND in Scotland

(2019) Danielle Leighton et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

(2019) Peter T Nelson et al.   BRAIN

Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosis

(2019) Giulia E Tyzack et al.   BRAIN

Executive, language and fluency dysfunction are markers of localised TDP-43 cerebral pathology in non-demented ALS

(2019) Jenna M Gregory et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Dysregulation of AMPA receptor subunit expression in sporadic ALS post‐mortem brain

(2019) Jenna M Gregory et al.   JOURNAL OF PATHOLOGY

Dual microglia effects on blood brain barrier permeability induced by systemic inflammation

(2019) Koichiro Haruwaka et al.   Nature Communications

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

(2018) Henk-Jan Westeneng et al.   LANCET NEUROLOGY

A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy

(2018) Maneka Chitiprolu et al.   Nature Communications

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

(2018) Patrick Oeckl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Psychiatric disorders in C9orf72 kindreds

(2018) Emma M. Devenney et al.   NEUROLOGY

Biomarkers for diseases with TDP-43 pathology

(2018) Petra Steinacker et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Do inflammatory profiles explain ALS–FTD spectrum?

(2018) Ian Fyfe   Nature Reviews Neurology

Prevalence of transactive response DNA-binding protein 43 (TDP-43) proteinopathy in cognitively normal older adults: systematic review and meta-analysis

(2017) C. Nascimento et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

ALS Clinical Trials Review: 20 Years of Failure. Are We Any Closer to Registering a New Treatment?

(2017) Dmitry Petrov et al.   Frontiers in Aging Neuroscience

Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

(2017) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Pathology of callosal damage in ALS: An ex-vivo , 7 T diffusion tensor MRI study

(2017) Agustin M. Cardenas et al.   NeuroImage-Clinical

QuPath: Open source software for digital pathology image analysis

(2017) Peter Bankhead et al.   Scientific Reports

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

(2016) Patrizia Rizzu et al.   Acta Neuropathologica Communications

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

(2015) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

TDP-43 activates microglia through NF-κB and NLRP3 inflammasome

(2015) Weihua Zhao et al.   EXPERIMENTAL NEUROLOGY

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions inC9ORF72gene

(2015) Atik Baborie et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions inC9orf72is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins

(2015) Y. Davidson et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Microglia constitute a barrier that prevents neurotoxic protofibrillar Aβ42 hotspots around plaques

(2015) Carlo Condello et al.   Nature Communications

Clinicopathological Study of Patients With C9ORF72-Associated Frontotemporal Dementia Presenting With Delusions

(2014) Shunichiro Shinagawa et al.   JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY

Screening for cognition and behaviour changes in ALS

(2013) Sharon Abrahams et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

Digital Pathology and Image Analysis for Robust High-Throughput Quantitative Assessment of Alzheimer Disease Neuropathologic Changes

(2012) Janna Hackett Neltner et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Microglial Activation Correlates with Disease Progression and Upper Motor Neuron Clinical Symptoms in Amyotrophic Lateral Sclerosis

(2012) Johannes Brettschneider et al.   PLoS One

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

(2011) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez 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

Pathological 43-kDa Transactivation Response DNA-Binding Protein in Older Adults With and Without Severe Mental Illness

(2010) Felix Geser et al.   ARCHIVES OF NEUROLOGY

Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43

(2010) Andrew King et al.   NEUROPATHOLOGY