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

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

Clinical features ofTBK1carriers compared withC9orf72,GRNand non-mutation carriers in a Belgian cohort

(2015) Sara Van Mossevelde et al.   BRAIN

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts

(2015) Isabelle Le Ber et al.   NEUROBIOLOGY OF AGING

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin

(2015) Kelly L. Williams et al.   NEUROBIOLOGY OF AGING

Loss ofTBK1is a frequent cause of frontotemporal dementia in a Belgian cohort

(2015) Ilse Gijselinck et al.   NEUROLOGY

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee 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

TARDBPmutation p.Ile383Val associated with semantic dementia and complex proteinopathy

(2013) E. Gelpi et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

(2013) Marc Cruts et al.   TRENDS IN NEUROSCIENCES

Crystal Structure and Mechanism of Activation of TANK-Binding Kinase 1

(2013) Amede Larabi et al.   Cell Reports

Locus-specific mutation databases for neurodegenerative brain diseases

(2012) Marc Cruts et al.   HUMAN MUTATION

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

TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation

(2012) Manohar Pilli et al.   IMMUNITY

Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation

(2012) Catarina Chester et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

A harmonized classification system for FTLD-TDP pathology

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

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

(2011) Katya Rascovsky et al.   BRAIN

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

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

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

Tau-positive grains are constant in centenarians’ hippocampus

(2009) Chi-Tuan Pham et al.   NEUROBIOLOGY OF AGING

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

The IKK-related kinases: from innate immunity to oncogenesis

(2008) Jean-François Clément et al.   CELL RESEARCH

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE