Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

Molecular genetics of early-onset Alzheimer's disease revisited

(2016) Rita Cacace et al.   Alzheimers & Dementia

Defeating Alzheimer's disease and other dementias: a priority for European science and society

(2016) Bengt Winblad et al.   LANCET NEUROLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes

(2016) Ian T.S. Coyle-Gilchrist et al.   NEUROLOGY

Quantifying prion disease penetrance using large population control cohorts

(2016) Eric Vallabh Minikel et al.   Science Translational Medicine

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

(2015) Jonathan Baets et al.   BRAIN

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine

(2014) David J. Irwin et al.   ACTA NEUROPATHOLOGICA

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia

(2014) Andrea Mignarri et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

(2013) John Beck 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

A pathogenicprogranulinmutation andC9orf72repeat expansion in a family with frontotemporal dementia

(2013) Tammaryn Lashley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

Locus-specific mutation databases for neurodegenerative brain diseases

(2012) Marc Cruts et al.   HUMAN MUTATION

Clinical and Biomarker Changes in Dominantly Inherited Alzheimer's Disease

(2012) Randall J. Bateman et al.   NEW ENGLAND JOURNAL OF MEDICINE

TREM2 Variants in Alzheimer's Disease

(2012) Rita Guerreiro et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained

(2010) J. C. Stevens et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

(2008) J. Beck et al.   BRAIN