Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases

(2018) Mariet Allen et al.   Alzheimers & Dementia

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

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TRIM21 Promotes Innate Immune Response to RNA Viral Infection through Lys27-Linked Polyubiquitination of MAVS

(2018) Binbin Xue et al.   JOURNAL OF VIROLOGY

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

(2018) Martina de Majo et al.   NEUROBIOLOGY OF AGING

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Prominent microglial activation in cortical white matter is selectively associated with cortical atrophy in primary progressive aphasia

(2018) D. T. Ohm et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

DPP6 Loss Impacts Hippocampal Synaptic Development and Induces Behavioral Impairments in Recognition, Learning and Memory

(2018) Lin Lin et al.   Frontiers in Cellular Neuroscience

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

(2018) Iris Broce et al.   PLOS MEDICINE

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis

(2018) Katerina Placek et al.   NEUROBIOLOGY OF AGING

Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia

(2018) Ethan G. Geier et al.   ACTA NEUROPATHOLOGICA

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

(2017) Julie van der Zee et al.   HUMAN MUTATION

Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

(2017) Deepti Lall et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis

(2017) Young-Eun Kim et al.   NEUROBIOLOGY OF AGING

Patterns of Microglial Cell Activation in Alzheimer Disease and Frontotemporal Lobar Degeneration

(2017) Ricardo Taipa et al.   Neurodegenerative Diseases

DPPX antibody–associated encephalitis

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WebGestalt 2017: a more comprehensive, powerful, flexible and interactive gene set enrichment analysis toolkit

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Microglial NFκB-TNFα hyperactivation induces obsessive–compulsive behavior in mouse models of progranulin-deficient frontotemporal dementia

(2017) Grietje Krabbe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The tyrosine kinase Src promotes phosphorylation of the kinase TBK1 to facilitate type I interferon production after viral infection

(2017) Xuelian Li et al.   Science Signaling

The tyrosine kinase Src promotes phosphorylation of the kinase TBK1 to facilitate type I interferon production after viral infection

(2017) Xuelian Li et al.   Science Signaling

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

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Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis

(2016) Pei-Chien Tsai et al.   NEUROBIOLOGY OF AGING

C9orf72 is required for proper macrophage and microglial function in mice

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Human TBK1: A Gatekeeper of Neuroinflammation

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Molecular Pathways Bridging Frontotemporal Lobar Degeneration and Psychiatric Disorders

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Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Association of progranulin polymorphism rs5848 with neurodegenerative diseases: a meta-analysis

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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Phosphorylation of innate immune adaptor proteins MAVS, STING, and TRIF induces IRF3 activation

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C9orf72andUNC13Aare shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

(2014) Frank P. Diekstra et al.   ANNALS OF NEUROLOGY

A NovelGRNMutation (GRNc.708+6_+9delTGAG) in Frontotemporal Lobar Degeneration With TDP-43–Positive Inclusions

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

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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

(2014) Mike A Nalls et al.   NATURE GENETICS

Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci

(2014) Philip L De Jager et al.   NATURE NEUROSCIENCE

Genome-wide association interaction analysis for Alzheimer's disease

(2014) Elena S. Gusareva et al.   NEUROBIOLOGY OF AGING

Progranulin protein levels are differently regulated in plasma and CSF

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DPPX potassium channel antibody: Frequency, clinical accompaniments, and outcomes in 20 patients

(2014) W. O. Tobin et al.   NEUROLOGY

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Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation

(2013) Can Liao et al.   European Journal of Medical Genetics

Recent insights into the complexity of Tank-binding kinase 1 signaling networks: The emerging role of cellular localization in the activation and substrate specificity of TBK1

(2013) Elizabeth Helgason et al.   FEBS LETTERS

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The Mayo Clinic Biobank: A Building Block for Individualized Medicine

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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Patterns of microglial cell activation in frontotemporal lobar degeneration

(2013) Suzannah B. Lant et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Encephalitis and antibodies to dipeptidyl-peptidase-like protein-6, a subunit of Kv4.2 potassium channels

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RSeQC: quality control of RNA-seq experiments

(2012) Liguo Wang et al.   BIOINFORMATICS

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Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

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A Pan-European Study of theC9orf72Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

(2012) Julie van der Zee et al.   HUMAN MUTATION

Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury

(2012) Lauren Herl Martens et al.   JOURNAL OF CLINICAL INVESTIGATION

HLA-DQA2 and HLA-DQB2 Genes Are Specifically Expressed in Human Langerhans Cells and Encode a New HLA Class II Molecule

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A harmonized classification system for FTLD-TDP pathology

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

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Katya Rascovsky et al.   BRAIN

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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Classification of primary progressive aphasia and its variants

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

DPP6 Establishes the A-Type K+ Current Gradient Critical for the Regulation of Dendritic Excitability in CA1 Hippocampal Neurons

(2011) Wei Sun et al.   NEURON

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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rs5848 polymorphism and serum progranulin level

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

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

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

(2010) Taye H Hamza et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

LGP2 is a positive regulator of RIG-I- and MDA5-mediated antiviral responses

(2010) T. Satoh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analysis ofDPP6andFGGYas candidate genes for amyotrophic lateral sclerosis

(2009) Hussein Daoud et al.   Amyotrophic Lateral Sclerosis

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

(2009) Adriano Chiò et al.   HUMAN MOLECULAR GENETICS

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

(2009) Fangfang Yin et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

(2009) Isabella Fogh et al.   NEUROBIOLOGY OF AGING

No association of PGRN 3′UTR rs5848 in frontotemporal lobar degeneration

(2009) Sara Rollinson et al.   NEUROBIOLOGY OF AGING

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen et al.   NUCLEIC ACIDS RESEARCH

Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population

(2009) Javier Simón-Sánchez et al.   PLoS One

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

(2008) Rosa Rademakers et al.   HUMAN MOLECULAR GENETICS

DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients

(2008) R D. Bo et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

DPP6 localization in brain supports function as a Kv4 channel associated protein

(2008) Brian D. Clark   Frontiers in Molecular Neuroscience