Novel GRN Mutations in Alzheimer’s Disease and Frontotemporal Lobar Degeneration

Recent advances in the molecular genetics of frontotemporal lobar degeneration

(2017) Innocenzo Rainero   FUNCTIONAL NEUROLOGY

Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier

(2017) Gemma Lombardi et al.   JOURNAL OF ALZHEIMERS DISEASE

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family

(2017) Maura Gallo et al.   NEUROBIOLOGY OF AGING

Genetics of Frontotemporal Dementia

(2016) Diana A. Olszewska et al.   Current Neurology and Neuroscience Reports

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Guy M. McKhann et al.   Alzheimers & Dementia

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

(2011) Alan E. Renton et al.   NEURON

Alzheimer Disease–like Phenotype Associated With the c.154delA Mutation in Progranulin

(2010) Brendan J. Kelley et al.   ARCHIVES OF NEUROLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Pathogenic cysteine mutations affect progranulin function and production of mature granulins

(2009) Jun Wang et al.   JOURNAL OF NEUROCHEMISTRY

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation

(2008) Lena Skoglund et al.   NEUROGENETICS

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

(2008) N. Brouwers et al.   NEUROLOGY

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

(2008) R. Ghidoni et al.   NEUROLOGY

Invited Article: The Alzheimer disease-frontotemporal lobar degeneration spectrum

(2008) J. van der Zee et al.   NEUROLOGY