Published in Arch Neurol on May 01, 2010
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol (2011) 3.34
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol (2010) 2.75
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain (2012) 2.65
Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol (2012) 2.48
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain (2012) 2.43
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain (2012) 1.81
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr Opin Neurol (2012) 1.81
The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med (2012) 1.66
Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol (2012) 1.54
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat (2013) 1.53
The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol (2012) 1.42
Investigation of c9orf72 in 4 neurodegenerative disorders. Arch Neurol (2012) 1.32
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging (2012) 1.30
Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders. Hum Mol Genet (2013) 1.21
FTD and ALS: a tale of two diseases. Curr Alzheimer Res (2011) 1.12
Cognitive and behavioral features of c9FTD/ALS. Alzheimers Res Ther (2012) 0.96
TMEM106B a novel risk factor for frontotemporal lobar degeneration. J Mol Neurosci (2011) 0.89
Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Arch Neurol (2012) 0.89
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics (2015) 0.89
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum Mol Genet (2012) 0.86
Treatment implications of C9ORF72. Alzheimers Res Ther (2012) 0.85
Mechanisms of granulin deficiency: lessons from cellular and animal models. Mol Neurobiol (2012) 0.84
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nat Rev Neurol (2016) 0.83
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol (2014) 0.83
Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease. Acta Neuropathol Commun (2013) 0.80
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
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol (2009) 4.73
Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol (2008) 4.73
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
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
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet (2004) 3.00
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
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
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
PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease. Ann Neurol (2003) 1.94
Linezolid-induced inhibition of mitochondrial protein synthesis. Clin Infect Dis (2006) 1.94
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. Lancet Neurol (2006) 1.92
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat (2003) 1.89
SNPbox: a modular software package for large-scale primer design. Bioinformatics (2004) 1.87
Standardization of preanalytical aspects of cerebrospinal fluid biomarker testing for Alzheimer's disease diagnosis: a consensus paper from the Alzheimer's Biomarkers Standardization Initiative. Alzheimers Dement (2011) 1.85
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain (2008) 1.84
Identification of a novel plasmid-mediated colistin-resistance gene, mcr-2, in Escherichia coli, Belgium, June 2016. Euro Surveill (2016) 1.84
Cerebellar neurocognition: insights into the bottom of the brain. Clin Neurol Neurosurg (2008) 1.83
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol (2013) 1.82