The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

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

BACE1 Activity in Cerebrospinal Fluid and Its Relation to Markers of AD Pathology

(2017) Sandra D. Mulder et al.   JOURNAL OF ALZHEIMERS DISEASE

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

(2016) Raffaele Ferrari et al.   Molecular Neurodegeneration

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants

(2016) Cornelis Blauwendraat et al.   NEUROBIOLOGY OF AGING

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

(2016) Jose Bras et al.   NEUROBIOLOGY OF AGING

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia

(2016) Carlo Wilke et al.   Neurodegenerative Diseases

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

The behavioural/dysexecutive variant of Alzheimer’s disease: clinical, neuroimaging and pathological features

(2015) Rik Ossenkoppele et al.   BRAIN

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

(2015) Satoko Miyatake et al.   JOURNAL OF HUMAN GENETICS

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

(2015) Mike A. Nalls et al.   NEUROBIOLOGY OF AGING

TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca2+ signaling in motor neurons

(2015) R. Mutihac et al.   NEUROBIOLOGY OF DISEASE

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

(2015) Ilse Gijselinck et al.   NEUROLOGY

Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

(2015) Tammaryn Lashley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

(2014) Sylvie Bannwarth et al.   BRAIN

Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease

(2014) R. Di Fabio et al.   NEUROLOGY

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

(2014) Shuke Nie et al.   Orphanet Journal of Rare Diseases

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB

(2013) Chun T Kwok et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia

(2013) Serena Lattante et al.   NEUROBIOLOGY OF AGING

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease

(2013) Matthis Synofzik et al.   NEUROBIOLOGY OF AGING

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

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype

(2012) Matthis Synofzik et al.   NEUROBIOLOGY OF AGING

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

(2011) Katya Rascovsky et al.   BRAIN

Classification of primary progressive aphasia and its variants

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

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

(2009) N. Finch et al.   BRAIN

The heritability and genetics of frontotemporal lobar degeneration

(2009) J. D. Rohrer et al.   NEUROLOGY

Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland

(2008) Anna-Lotta Kaivorinne et al.   BMC Neurology

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

(2008) R. Ghidoni et al.   NEUROLOGY