The basis of clinicopathological heterogeneity in TDP-43 proteinopathy

Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains

(2019) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Neural computations of threat in the aftermath of combat trauma

(2019) Philipp Homan et al.   NATURE NEUROSCIENCE

RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43

(2019) Jacob R. Mann et al.   NEURON

Cytoplasmic TDP-43 De-mixing Independent of Stress Granules Drives Inhibition of Nuclear Import, Loss of Nuclear TDP-43, and Cell Death

(2019) Fatima Gasset-Rosa et al.   NEURON

Brain atrophy in primary age-related tauopathy is linked to transactive response DNA-binding protein of 43 kDa

(2019) Keith A. Josephs et al.   Alzheimers & Dementia

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

(2019) Peter T Nelson et al.   BRAIN

The Evolution of Phase-Separated TDP-43 in Stress

(2019) Benjamin Wolozin   NEURON

LATE to the PART-y

(2019) Keith A Josephs et al.   BRAIN

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

(2018) Pietro Fratta et al.   EMBO JOURNAL

Reversible induction of TDP-43 granules in cortical neurons after traumatic injury

(2018) Diana Wiesner et al.   EXPERIMENTAL NEUROLOGY

Traumatic injury induces stress granule formation and enhances motor dysfunctions in ALS/FTD models

(2018) Eric N Anderson et al.   HUMAN MOLECULAR GENETICS

TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

(2018) Matthew A. White et al.   NATURE NEUROSCIENCE

Microglia-mediated recovery from ALS-relevant motor neuron degeneration in a mouse model of TDP-43 proteinopathy

(2018) Krista J. Spiller et al.   NATURE NEUROSCIENCE

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

(2018) Ching-Chieh Chou et al.   NATURE NEUROSCIENCE

Genotype–phenotype links in frontotemporal lobar degeneration

(2018) Sara Van Mossevelde et al.   Nature Reviews Neurology

Structures of filaments from Pick’s disease reveal a novel tau protein fold

(2018) Benjamin Falcon et al.   NATURE

Mitochondria, ER, and nuclear membrane defects reveal early mechanisms for upper motor neuron vulnerability with respect to TDP-43 pathology

(2018) Mukesh Gautam et al.   ACTA NEUROPATHOLOGICA

Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology

(2018) Alissa L. Nana et al.   ACTA NEUROPATHOLOGICA

Biomarkers for diseases with TDP-43 pathology

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

Review: Fluid biomarkers for frontotemporal dementias

(2018) H. Zetterberg et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo

(2018) Sílvia Porta et al.   Nature Communications

Genetic mutations in RNA-binding proteins and their roles in ALS

(2017) Katannya Kapeli et al.   HUMAN GENETICS

Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes

(2017) Yoshinori Tanaka et al.   HUMAN MOLECULAR GENETICS

Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum

(2017) Ai-Ling Ji et al.   JOURNAL OF MEDICAL GENETICS

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

(2017) Ian R. Mackenzie et al.   NEURON

Prion-like mechanisms and potential therapeutic targets in neurodegenerative disorders

(2017) Masato Hasegawa et al.   PHARMACOLOGY & THERAPEUTICS

Propagation of pathological α-synuclein in marmoset brain

(2017) Aki Shimozawa et al.   Acta Neuropathologica Communications

Pathological TDP-43 changes in Betz cells differ from those in bulbar and spinal α-motoneurons in sporadic amyotrophic lateral sclerosis

(2016) Heiko Braak et al.   ACTA NEUROPATHOLOGICA

Updated TDP-43 in Alzheimer’s disease staging scheme

(2016) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Exosome secretion is a key pathway for clearance of pathological TDP-43

(2016) Yohei Iguchi et al.   BRAIN

Selective Frontoinsular von Economo Neuron and Fork Cell Loss in Early Behavioral Variant Frontotemporal Dementia

(2016) Eun-Joo Kim et al.   CEREBRAL CORTEX

A look into the future of ALS research

(2016) Pascaline Clerc et al.   DRUG DISCOVERY TODAY

Templated Aggregation of TAR DNA-binding Protein of 43 kDa (TDP-43) by Seeding with TDP-43 Peptide Fibrils

(2016) Shotaro Shimonaka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The frontotemporal dementia-motor neuron disease continuum

(2016) James R Burrell et al.   LANCET

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

(2016) Kelly L. Williams et al.   Nature Communications

Interaction of tau with the RNA-Binding Protein TIA1 Regulates tau Pathophysiology and Toxicity

(2016) Tara Vanderweyde et al.   Cell Reports

Mass spectrometric analysis of accumulated TDP-43 in amyotrophic lateral sclerosis brains

(2016) Fuyuki Kametani et al.   Scientific Reports

Internalized Tau sensitizes cells to stress by promoting formation and stability of stress granules

(2016) Cecilia A. Brunello et al.   Scientific Reports

The first NINDS/NIBIB consensus meeting to define neuropathological criteria for the diagnosis of chronic traumatic encephalopathy

(2015) Ann C. McKee et al.   ACTA NEUROPATHOLOGICA

TDP-43 is intercellularly transmitted across axon terminals

(2015) Marisa S. Feiler et al.   JOURNAL OF CELL BIOLOGY

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

The TMEM106B locus and TDP-43 pathology in older persons without FTLD

(2015) L. Yu et al.   NEUROLOGY

Oligogenic inheritance of optineurin (OPTN) andC9ORF72mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions ofC9ORF72-ALS

(2015) Joanna J. Bury et al.   NEUROPATHOLOGY

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

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia

(2015) Alberto Benussi et al.   Frontiers in Aging Neuroscience

TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies

(2015) Joery Goossens et al.   Acta Neuropathologica Communications

Primary age-related tauopathy (PART): a common pathology associated with human aging

(2014) John F. Crary et al.   ACTA NEUROPATHOLOGICA

Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD)

(2014) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee et al.   ACTA NEUROPATHOLOGICA

TDP-43 is a key player in the clinical features associated with Alzheimer’s disease

(2014) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Military-related traumatic brain injury and neurodegeneration

(2014) Ann C. McKee et al.   Alzheimers & Dementia

Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

(2014) S. E. Lee et al.   BRAIN

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

(2014) Angelina Cistaro et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis

(2014) H. Meyer et al.   JOURNAL OF CELL SCIENCE

Astrocytic TDP-43 Pathology in Alexander Disease

(2014) A. K. Walker et al.   JOURNAL OF NEUROSCIENCE

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

(2014) Sami J Barmada et al.   Nature Chemical Biology

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

(2014) Nael H. Alami et al.   NEURON

Significance and limitation of the pathological classification of TDP-43 proteinopathy

(2014) Tetsuaki Arai   NEUROPATHOLOGY

Multiple Kernel Learning Captures a Systems-Level Functional Connectivity Biomarker Signature in Amyotrophic Lateral Sclerosis

(2014) Tomer Fekete et al.   PLoS One

Divergent Phenotypes in Mutant TDP-43 Transgenic Mice Highlight Potential Confounds in TDP-43 Transgenic Modeling

(2014) Simon D’Alton et al.   PLoS One

Disease causing mutants of TDP-43 nucleic acid binding domains are resistant to aggregation and have increased stability and half-life

(2014) J. A. Austin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Full-length TDP-43 forms toxic amyloid oligomers that are present in frontotemporal lobar dementia-TDP patients

(2014) Yu-Sheng Fang et al.   Nature Communications

Frontotemporal Dementia Associated With theC9ORF72Mutation

(2014) Emma Devenney et al.   JAMA Neurology

Lessons of ALS imaging: Pitfalls and future directions — A critical review

(2014) Peter Bede et al.   NeuroImage-Clinical

Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice

(2014) Yoshinori Tanaka et al.   Acta Neuropathologica Communications

The neuropathology associated with repeat expansions in the C9ORF72 gene

(2013) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

TDP-43 deposition in prospectively followed, cognitively normal elderly individuals: correlation with argyrophilic grains but not other concomitant pathologies

(2013) Stacy J. Arnold et al.   ACTA NEUROPATHOLOGICA

Inclusions in frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP) and amyotrophic lateral sclerosis (ALS), but not FTLD with FUS proteinopathy (FTLD-FUS), have properties of amyloid

(2013) Eileen H. Bigio et al.   ACTA NEUROPATHOLOGICA

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not

(2013) John Hardy et al.   EXPERIMENTAL NEUROLOGY

Amyotrophic lateral sclerosis: cell vulnerability or system vulnerability?

(2013) Kevin Talbot   JOURNAL OF ANATOMY

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Multiparametric MRI study of ALS stratified for the C9orf72 genotype

(2013) P. Bede et al.   NEUROLOGY

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

(2013) E. S. Arnold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains

(2013) Takashi Nonaka et al.   Cell Reports

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

(2012) J. S. Snowden et al.   BRAIN

Molecular analysis and biochemical classification of TDP-43 proteinopathy

(2012) Hiroshi Tsuji et al.   BRAIN

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

(2012) C. J. Mahoney et al.   BRAIN

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

(2012) J. L. Whitwell et al.   BRAIN

The spectrum of disease in chronic traumatic encephalopathy

(2012) Ann C. McKee et al.   BRAIN

Cognitive decline and reduced survival inC9orf72expansion frontotemporal degeneration and amyotrophic lateral sclerosis

(2012) David J Irwin et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Divergent brain network connectivity in amyotrophic lateral sclerosis

(2012) Federica Agosta et al.   NEUROBIOLOGY OF AGING

Frontotemporal dementia due to C9ORF72 mutations: Clinical and imaging features

(2012) S. J. Sha et al.   NEUROLOGY

Predicting Regional Neurodegeneration from the Healthy Brain Functional Connectome

(2012) Juan Zhou et al.   NEURON

Neuropathological background of phenotypical variability in frontotemporal dementia

(2011) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

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

Hippocampal sclerosis in advanced age: clinical and pathological features

(2011) Peter T. Nelson et al.   BRAIN

Motor Neuron dysfunction in frontotemporal dementia

(2011) James R. Burrell et al.   BRAIN

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Classification of primary progressive aphasia and its variants

(2011) M. L. Gorno-Tempini et al.   NEUROLOGY

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

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

(2011) Alan E. Renton et al.   NEURON

TDP-43 plasma levels do not differentiate sporadic inclusion body myositis from other inflammatory myopathies

(2010) H. Bea Kuiperij et al.   ACTA NEUROPATHOLOGICA

Protein coding of neurodegenerative dementias: the neuropathological basis of biomarker diagnostics

(2010) Gabor G. Kovacs et al.   ACTA NEUROPATHOLOGICA

Amyotrophic lateral sclerosis: dash-like accumulation of phosphorylated TDP-43 in somatodendritic and axonal compartments of somatomotor neurons of the lower brainstem and spinal cord

(2010) Heiko Braak et al.   ACTA NEUROPATHOLOGICA

Neurobehavioral Features in Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

(2010) Patricia Lillo et al.   ARCHIVES OF NEUROLOGY

Divergent network connectivity changes in behavioural variant frontotemporal dementia and Alzheimer’s disease

(2010) Juan Zhou et al.   BRAIN

Calcium dysregulation in amyotrophic lateral sclerosis

(2010) Julian Grosskreutz et al.   CELL CALCIUM

TDP-43 regulates its mRNA levels through a negative feedback loop

(2010) Youhna M Ayala et al.   EMBO JOURNAL

Nuclear factor TDP-43 can affect selected microRNA levels

(2010) Emanuele Buratti et al.   FEBS Journal

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

(2010) H. Seelaar et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

(2010) A. L. Boxer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TDP-43 Proteinopathy and Motor Neuron Disease in Chronic Traumatic Encephalopathy

(2010) Ann C. McKee et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Pathology of protein synthesis and degradation systems in ALS

(2010) Koichi Okamoto et al.   NEUROPATHOLOGY

Phosphorylated and cleaved TDP-43 in ALS, FTLD and other neurodegenerative disorders and in cellular models of TDP-43 proteinopathy

(2010) Tetsuaki Arai et al.   NEUROPATHOLOGY

Plasma phosphorylated-TDP-43 protein levels correlate with brain pathology in frontotemporal lobar degeneration

(2009) Penelope G. Foulds et al.   ACTA NEUROPATHOLOGICA

TDP-43 pathology in familial British dementia

(2009) Claudia Schwab et al.   ACTA NEUROPATHOLOGICA

Phosphorylated TDP-43 in Alzheimer’s disease and dementia with Lewy bodies

(2009) Tetsuaki Arai 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

Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases

(2009) Felix Geser et al.   JOURNAL OF NEUROLOGY

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

(2009) Gabor G. Kovacs et al.   MOVEMENT DISORDERS

Executive dysfunction in frontotemporal dementia and corticobasal syndrome

(2009) E. D. Huey et al.   NEUROLOGY

Neurodegenerative Diseases Target Large-Scale Human Brain Networks

(2009) William W. Seeley et al.   NEURON

Structural insights into TDP-43 in nucleic-acid binding and domain interactions

(2009) P.-H. Kuo et al.   NUCLEIC ACIDS RESEARCH

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

(2008) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Accumulation of phosphorylated TDP-43 in brains of patients with argyrophilic grain disease

(2008) Hiroshige Fujishiro et al.   ACTA NEUROPATHOLOGICA

TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer’s disease and frontotemporal lobar degeneration

(2008) Penelope Foulds et al.   ACTA NEUROPATHOLOGICA

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2008) Masato Hasegawa et al.   ANNALS OF NEUROLOGY

TDP-43 in Cerebrospinal Fluid of Patients With Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2008) Petra Steinacker et al.   ARCHIVES OF NEUROLOGY

Evidence of Multisystem Disorder in Whole-Brain Map of Pathological TDP-43 in Amyotrophic Lateral Sclerosis

(2008) Felix Geser et al.   ARCHIVES OF NEUROLOGY

Disturbance of Nuclear and Cytoplasmic TAR DNA-binding Protein (TDP-43) Induces Disease-like Redistribution, Sequestration, and Aggregate Formation

(2008) Matthew J. Winton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

P bodies promote stress granule assembly inSaccharomyces cerevisiae

(2008) J. Ross Buchan et al.   JOURNAL OF CELL BIOLOGY

TAR DNA-Binding Protein 43 Immunohistochemistry Reveals Extensive Neuritic Pathology in FTLD-U: A Midwest-Southwest Consortium for FTLD Study

(2008) Kimmo J. Hatanpaa et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Apathy and disinhibition in frontotemporal dementia: Insights into their neural correlates

(2008) G. Zamboni et al.   NEUROLOGY