Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine

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

Are cases with tau pathology occurring in the absence of Aβ deposits part of the AD-related pathological process?

(2014) Heiko Braak et al.   ACTA NEUROPATHOLOGICA

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

(2014) Malcolm Proudfoot et al.   ACTA NEUROPATHOLOGICA

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

(2014) Yong-Jie Zhang et al.   ACTA NEUROPATHOLOGICA

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

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier

(2014) Jenny Russ 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

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD

(2014) Elaine Y. Liu et al.   ACTA NEUROPATHOLOGICA

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

(2014) Michael D. Gallagher et al.   ACTA NEUROPATHOLOGICA

Microtubule-stabilizing agents as potential therapeutics for neurodegenerative disease

(2014) Kurt R. Brunden et al.   BIOORGANIC & MEDICINAL CHEMISTRY

Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

(2014) S. E. Lee et al.   BRAIN

Asymmetry and heterogeneity of Alzheimer’s and frontotemporal pathology in primary progressive aphasia

(2014) M.-Marsel Mesulam et al.   BRAIN

The power of neuroimaging biomarkers for screening frontotemporal dementia

(2014) Corey T. McMillan et al.   HUMAN BRAIN MAPPING

ALS-Plus syndrome: Non-pyramidal features in a large ALS cohort

(2014) Leo McCluskey et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

Davunetide in patients with progressive supranuclear palsy: a randomised, double-blind, placebo-controlled phase 2/3 trial

(2014) Adam L Boxer et al.   LANCET NEUROLOGY

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

(2014) Marka van Blitterswijk et al.   Molecular Neurodegeneration

Cell-to-cell transmission of pathogenic proteins in neurodegenerative diseases

(2014) Jing L Guo et al.   NATURE MEDICINE

Myelin oligodendrocyte basic protein and prognosis in behavioral-variant frontotemporal dementia

(2014) D. J. Irwin et al.   NEUROLOGY

Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia

(2014) E. G. P. Dopper et al.   NEUROLOGY

CSF neurofilament light differs in neurodegenerative diseases and predicts severity and survival

(2014) T. Skillback et al.   NEUROLOGY

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family With Hexanucleotide Repeat Expansions inC9orf72

(2014) Jill S. Goldman et al.   JAMA Neurology

ExpandedC9ORF72Hexanucleotide Repeat in Depressive Pseudodementia

(2014) Kevin F. Bieniek et al.   JAMA Neurology

Phosphorylated Tau as a Candidate Biomarker for Amyotrophic Lateral Sclerosis

(2014) Murray Grossman et al.   JAMA Neurology

Novel monoclonal antibodies to normal and pathologically altered human TDP-43 proteins

(2014) Linda K Kwong et al.   Acta Neuropathologica Communications

Argyrophilic grain disease differs from other tauopathies by lacking tau acetylation

(2013) Lea Tenenholz Grinberg et al.   ACTA NEUROPATHOLOGICA

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

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

Globular glial tauopathies (GGT): consensus recommendations

(2013) Zeshan Ahmed et al.   ACTA NEUROPATHOLOGICA

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Staging TDP-43 pathology in Alzheimer’s disease

(2013) Keith A. Josephs 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

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acetylated Tau Neuropathology in Sporadic and Hereditary Tauopathies

(2013) David J. Irwin et al.   AMERICAN JOURNAL OF PATHOLOGY

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

Cerebrospinal fluid neurofilament concentration reflects disease severity in frontotemporal degeneration

(2013) Carole S. Scherling et al.   ANNALS OF NEUROLOGY

Clinical Utility and Analytical Challenges in Measurement of Cerebrospinal Fluid Amyloid- 1-42 and   Proteins as Alzheimer Disease Biomarkers

(2013) J.-H. Kang et al.   CLINICAL CHEMISTRY

Neurofibrillary tangle-like tau pathology induced by synthetic tau fibrils in primary neurons over-expressing mutant tau

(2013) Jing L. Guo et al.   FEBS LETTERS

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

(2013) Darine Villela et al.   GENETICS AND MOLECULAR BIOLOGY

Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance

(2013) Casey Cook et al.   HUMAN MOLECULAR GENETICS

White matter imaging helps dissociate tau from TDP-43 in frontotemporal lobar degeneration

(2013) C. T. McMillan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Synthetic Tau Fibrils Mediate Transmission of Neurofibrillary Tangles in a Transgenic Mouse Model of Alzheimer's-Like Tauopathy

(2013) M. Iba et al.   JOURNAL OF NEUROSCIENCE

Memantine in patients with frontotemporal lobar degeneration: a multicentre, randomised, double-blind, placebo-controlled trial

(2013) Adam L Boxer et al.   LANCET NEUROLOGY

Self-propagation of pathogenic protein aggregates in neurodegenerative diseases

(2013) Mathias Jucker et al.   NATURE

Amyotrophic lateral sclerosis—a model of corticofugal axonal spread

(2013) Heiko Braak et al.   Nature Reviews Neurology

Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration

(2013) Corey T. McMillan et al.   NEUROBIOLOGY OF AGING

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

Reduced CSF p-Tau181 to Tau ratio is a biomarker for FTLD-TDP

(2013) W. T. Hu et al.   NEUROLOGY

Criteria for the diagnosis of corticobasal degeneration

(2013) M. J. Armstrong et al.   NEUROLOGY

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

Imaging of Tau Pathology in a Tauopathy Mouse Model and in Alzheimer Patients Compared to Normal Controls

(2013) Masahiro Maruyama et al.   NEURON

Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation

(2013) Masaki Kamada et al.   NEUROPATHOLOGY

Characterizing TDP-43 interaction with its RNA targets

(2013) Amit Bhardwaj et al.   NUCLEIC ACIDS RESEARCH

Brain homogenates from human tauopathies induce tau inclusions in mouse brain

(2013) Florence Clavaguera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Frontotemporal lobar degeneration and amyotrophic lateral sclerosis: Molecular similarities and differences

(2013) M. Neumann   REVUE NEUROLOGIQUE

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

(2013) K. Mori et al.   SCIENCE

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

(2013) Takashi Nonaka et al.   Cell Reports

Cerebrospinal fluid biomarkers for differentiation of frontotemporal lobar degeneration from Alzheimer's disease

(2013) David J. Irwin et al.   Frontiers in Aging Neuroscience

Evaluation of Potential Infectivity of Alzheimer and Parkinson Disease Proteins in Recipients of Cadaver-Derived Human Growth Hormone

(2013) David J. Irwin et al.   JAMA Neurology

C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

(2013) Matthew Harms et al.   JAMA Neurology

TDP-43 Pathology, Cognitive Decline, and Dementia in Old Age

(2013) Robert S. Wilson et al.   JAMA Neurology

Development and Validation of Pedigree Classification Criteria for Frontotemporal Lobar Degeneration

(2013) Elisabeth M. Wood et al.   JAMA Neurology

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

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

(2012) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

The MAPT H1 haplotype is associated with tangle-predominant dementia

(2012) Ismael Santa-Maria et al.   ACTA NEUROPATHOLOGICA

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

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

CSF biomarkers cutoffs: the importance of coincident neuropathological diseases

(2012) Jon B. Toledo et al.   ACTA NEUROPATHOLOGICA

TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation

(2012) Maria Martinez-Lage et al.   ACTA NEUROPATHOLOGICA

TDP-43 skeins show properties of amyloid in a subset of ALS cases

(2012) John L. Robinson et al.   ACTA NEUROPATHOLOGICA

Medical and environmental risk factors associated with frontotemporal dementia: A case-control study in a veteran population

(2012) Yogeshwar V. Kalkonde et al.   Alzheimers & Dementia

Comparison of Cerebrospinal Fluid Levels of Tau and Aβ 1-42 in Alzheimer Disease and Frontotemporal Degeneration Using 2 Analytical Platforms

(2012) David J. Irwin et al.   ARCHIVES 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

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

(2012) Bradley F. Boeve et al.   BRAIN

Acetylated tau, a novel pathological signature in Alzheimer's disease and other tauopathies

(2012) David J. Irwin et al.   BRAIN

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

(2012) C. J. Mahoney et al.   BRAIN

Different molecular pathologies result in similar spatial patterns of cellular inclusions in neurodegenerative disease: a comparative study of eight disorders

(2012) Richard A. Armstrong et al.   JOURNAL OF NEURAL TRANSMISSION

Development and assessment of sensitive immuno-PCR assays for the quantification of cerebrospinal fluid three- and four-repeat tau isoforms in tauopathies

(2012) Connie Luk et al.   JOURNAL OF NEUROCHEMISTRY

Therapeutic strategies for tau mediated neurodegeneration

(2012) Y. Yoshiyama et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Atypical, slowly progressive behavioural variant frontotemporal dementia associated withC9ORF72hexanucleotide expansion

(2012) Baber K Khan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

TMEM106B, the Risk Gene for Frontotemporal Dementia, Is Regulated by the microRNA-132/212 Cluster and Affects Progranulin Pathways

(2012) A. S. Chen-Plotkin et al.   JOURNAL OF NEUROSCIENCE

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

(2012) Susan Byrne et al.   LANCET 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

Cerebral PET with florbetapir compared with neuropathology at autopsy for detection of neuritic amyloid-β plaques: a prospective cohort study

(2012) Christopher M Clark et al.   LANCET NEUROLOGY

Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system

(2012) Hemmo Meyer et al.   NATURE CELL BIOLOGY

Neuroimaging in frontotemporal lobar degeneration—predicting molecular pathology

(2012) Jennifer L. Whitwell et al.   Nature Reviews Neurology

Can MRI screen for CSF biomarkers in neurodegenerative disease?

(2012) C. T. McMillan et al.   NEUROLOGY

White matter imaging contributes to the multimodal diagnosis of frontotemporal lobar degeneration

(2012) C. T. McMillan et al.   NEUROLOGY

Frontotemporal dementia due to C9ORF72 mutations: Clinical and imaging features

(2012) S. J. Sha et al.   NEUROLOGY

Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation

(2012) J. Kirby et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene

(2011) Julie S. Snowden et al.   ACTA NEUROPATHOLOGICA

Qualification of the analytical and clinical performance of CSF biomarker analyses in ADNI

(2011) Leslie M. Shaw et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

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

National Institute on Aging–Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease: a practical approach

(2011) Thomas J. Montine et al.   ACTA NEUROPATHOLOGICA

The Alzheimer’s Association external quality control program for cerebrospinal fluid biomarkers

(2011) Niklas Mattsson et al.   Alzheimers & Dementia

Standardization of preanalytical aspects of cerebrospinal fluid biomarker testing for Alzheimer's disease diagnosis: A consensus paper from the Alzheimer's Biomarkers Standardization Initiative

(2011) Hugo Vanderstichele et al.   Alzheimers & Dementia

Clinicopathological correlations in corticobasal degeneration

(2011) Suzee E. Lee et al.   ANNALS OF NEUROLOGY

Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

(2011) Alice S. Chen-Plotkin et al.   ARCHIVES OF NEUROLOGY

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

(2011) Julie van der Zee et al.   BRAIN

A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies

(2011) T. Lashley et al.   BRAIN

Hippocampal sclerosis in advanced age: clinical and pathological features

(2011) Peter T. Nelson et al.   BRAIN

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

(2011) Manuela Neumann et al.   BRAIN

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

(2011) J. D. Rohrer et al.   BRAIN

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

(2011) Katya Rascovsky et al.   BRAIN

Biomarkers to Identify the Pathological Basis for Frontotemporal Lobar Degeneration

(2011) Murray Grossman   JOURNAL OF MOLECULAR NEUROSCIENCE

Estimating the Number of Persons with Frontotemporal Lobar Degeneration in the US Population

(2011) David S. Knopman et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Neuropathology of Frontotemporal Lobar Degeneration-Tau (FTLD-Tau)

(2011) Dennis W. Dickson et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

(2011) Günter U Höglinger et al.   NATURE GENETICS

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

The acetylation of tau inhibits its function and promotes pathological tau aggregation

(2011) Todd J. Cohen et al.   Nature Communications

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

(2010) Hazel Urwin et al.   ACTA NEUROPATHOLOGICA

Nonprogressive behavioural frontotemporal dementia: recent developments and clinical implications of the ‘bvFTD phenocopy syndrome’

(2010) Christopher M Kipps et al.   CURRENT OPINION IN NEUROLOGY

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

(2010) Vivianna M Van Deerlin et al.   NATURE GENETICS

Primary progressive aphasia: clinicopathological correlations

(2010) Murray Grossman   Nature Reviews Neurology

Multimodal predictors for Alzheimer disease in nonfluent primary progressive aphasia

(2010) W. T. Hu et al.   NEUROLOGY

Novel CSF biomarkers for frontotemporal lobar degenerations

(2010) W. T. Hu et al.   NEUROLOGY

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

(2010) N. Finch et al.   NEUROLOGY

Acetylation of Tau Inhibits Its Degradation and Contributes to Tauopathy

(2010) Sang-Won Min et al.   NEURON

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

TDP-43 proteinopathy in familial motor neurone disease with TARDBP A315T mutation: a case report

(2010) N. J. Cairns et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

(2009) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

FUS pathology in basophilic inclusion body disease

(2009) David G. Munoz et al.   ACTA NEUROPATHOLOGICA

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration

(2009) Alice S. Chen-Plotkin et al.   ACTA NEUROPATHOLOGICA

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

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

(2009) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis

(2009) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

(2009) Kristel Sleegers et al.   ANNALS OF NEUROLOGY

Cerebrospinal fluid biomarker signature in Alzheimer's disease neuroimaging initiative subjects

(2009) Leslie M. Shaw et al.   ANNALS OF NEUROLOGY

Clinical and Pathological Continuum of Multisystem TDP-43 Proteinopathies

(2009) Felix Geser et al.   ARCHIVES OF NEUROLOGY

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

(2009) N. Finch et al.   BRAIN

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

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

Enrichment of C-Terminal Fragments in TAR DNA-Binding Protein-43 Cytoplasmic Inclusions in Brain but not in Spinal Cord of Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2008) Lionel M. Igaz et al.   AMERICAN JOURNAL OF PATHOLOGY

Aβ amyloid and glucose metabolism in three variants of primary progressive aphasia

(2008) Gil D. Rabinovici et al.   ANNALS OF NEUROLOGY

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho 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

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

(2008) Isabelle Le Ber et al.   BRAIN

Argyrophilic grain disease

(2008) I. Ferrer et al.   BRAIN

Concomitant TAR-DNA-Binding Protein 43 Pathology Is Present in Alzheimer Disease and Corticobasal Degeneration but Not in Other Tauopathies

(2008) Kunihiro Uryu et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

TAR-DNA Binding Protein 43 in Pick Disease

(2008) Stefanie H. Freeman et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Tau forms in CSF as a reliable biomarker for progressive supranuclear palsy

(2008) B. Borroni et al.   NEUROLOGY

CSF biomarkers in frontotemporal lobar degeneration with known pathology

(2008) H. Bian et al.   NEUROLOGY

Pattern of Tau forms in CSF is altered in progressive supranuclear palsy

(2007) B. Borroni et al.   NEUROBIOLOGY OF AGING