Published in Neurobiol Aging on January 24, 2013
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med (2013) 2.89
Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun (2013) 1.32
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathol (2014) 1.13
Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun (2014) 1.09
The genetic landscape of Alzheimer disease: clinical implications and perspectives. Genet Med (2015) 1.09
Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity. JAMA Neurol (2013) 0.99
C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China. Front Cell Neurosci (2013) 0.90
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics (2015) 0.89
Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia. Front Aging Neurosci (2015) 0.87
Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease. Acta Neuropathol Commun (2013) 0.80
Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease. Mov Disord (2014) 0.80
Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets? Neurodegener Dis Manag (2014) 0.78
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathol (2017) 0.75
The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis. Parkinsons Dis (2016) 0.75
Interactions of pathological proteins in neurodegenerative diseases. Acta Neuropathol (2017) 0.75
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature (2006) 9.31
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science (2013) 6.34
Diagnosis-independent Alzheimer disease biomarker signature in cognitively normal elderly people. Arch Neurol (2010) 5.53
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
On the use of scaling and clustering in the study of semantic deficits. Neuropsychology (2003) 5.38
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol (2011) 5.01
Rivastigmine for dementia associated with Parkinson's disease. N Engl J Med (2004) 4.56
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet (2003) 4.19
Longitudinal assessment of chemotherapy-induced structural changes in cerebral white matter and its correlation with impaired cognitive functioning. J Clin Oncol (2011) 3.69
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci U S A (2010) 3.39
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet (2004) 2.86
Serum biomarker for progranulin-associated frontotemporal lobar degeneration. Ann Neurol (2009) 2.83
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol (2007) 2.80
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet (2007) 2.63
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet (2011) 2.63
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet (2008) 2.45
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat (2010) 2.29
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. Hum Mutat (2006) 2.29
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol (2013) 2.27
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain (2006) 2.23
Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology (2012) 2.18
Locus-specific mutation databases for neurodegenerative brain diseases. Hum Mutat (2012) 2.17
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol (2004) 2.09
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet (2005) 2.08
alpha-Synuclein promoter confers susceptibility to Parkinson's disease. Ann Neurol (2004) 1.97
Genetic insights in Alzheimer's disease. Lancet Neurol (2013) 1.96
Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol (2010) 1.95