Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

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

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

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

(2014) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

False discovery rate control is a recommended alternative to Bonferroni-type adjustments in health studies

(2014) Mark E. Glickman et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Apolipoprotein E polymorphisms in frontotemporal lobar degeneration: A meta-analysis

(2013) Elisa Rubino et al.   Alzheimers & Dementia

Overexpression of metallothionein-I, a copper-regulating protein, attenuates intracellular copper dyshomeostasis and extends lifespan in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase-1

(2013) E. Tokuda et al.   HUMAN MOLECULAR GENETICS

The molecular basis for selective assembly of the UBAP1-containing endosome-specific ESCRT-I complex

(2013) L. Wunderley et al.   JOURNAL OF CELL SCIENCE

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

(2013) M. van Blitterswijk et al.   NEUROLOGY

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Marka van Blitterswijk et al.   CURRENT OPINION IN 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

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

(2012) Frank P. Diekstra et al.   PLoS One

UBAP1 Is a Component of an Endosome-Specific ESCRT-I Complex that Is Essential for MVB Sorting

(2011) Flavia Stefani et al.   CURRENT BIOLOGY

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

Prion Protein Codon 129 Polymorphism Modifies Age at Onset of Frontotemporal Dementia With the C.709-1G>A Progranulin Mutation

(2010) Fermín Moreno et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

Association Between Blood Lead and the Risk of Amyotrophic Lateral Sclerosis

(2010) F. Fang et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Protective effect of metallothionein on oxidative stress-induced DNA damage

(2010) Natalie Chiaverini et al.   FREE RADICAL RESEARCH

RNA processing pathways in amyotrophic lateral sclerosis

(2010) Marka van Blitterswijk et al.   NEUROGENETICS

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

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

(2009) Sara Rollinson et al.   NEUROBIOLOGY OF AGING

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

(2009) Sara Rollinson et al.   NEUROBIOLOGY OF AGING

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

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

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

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

(2008) Stuart M. Pickering-Brown et al.   BRAIN

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