Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

National Institute on Aging–Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease

(2012) Bradley T. Hyman et al.   Alzheimers & Dementia

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

(2012) Giovanni Coppola et al.   HUMAN MOLECULAR GENETICS

Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

(2012) Carlos Cruchaga et al.   PLoS One

Association of TMEM106B Gene Polymorphism With Age at Onset in Granulin Mutation Carriers and Plasma Granulin Protein Levels

(2011) Carlos Cruchaga et al.   ARCHIVES OF NEUROLOGY

Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence

(2011) Gabe Haller et al.   HUMAN MOLECULAR GENETICS

The Spectrum of Mutations in Progranulin

(2010) Chang-En Yu et al.   ARCHIVES OF NEUROLOGY

High-throughput discovery of rare insertions and deletions in large cohorts

(2010) F. L. M. Vallania et al.   GENOME RESEARCH

Progranulin plasma levels in the diagnosis of frontotemporal dementia

(2009) T. D. Bird   BRAIN

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

(2009) N. Finch et al.   BRAIN

Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation

(2009) Kensaku Kasuga et al.   JOURNAL OF NEUROLOGY

Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease

(2009) Miryam Carecchio et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family

(2008) Huei-Hsin Chiang et al.   Alzheimers & Dementia

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

(2008) Isabelle Le Ber et al.   BRAIN

Mutational Analysis in Early-Onset Familial Dementia in the Japanese Population

(2008) Takeshi Ikeuchi et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

(2008) Odity Mukherjee et al.   HUMAN MUTATION

A novel deletion in progranulin gene is associated with FTDP-17 and CBS

(2006) Luisa Benussi et al.   NEUROBIOLOGY OF AGING