Published in Biochim Biophys Acta on August 05, 2006
Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology (2010) 2.05
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology (2009) 1.67
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet (2008) 1.46
The role of environmental mercury, lead and pesticide exposure in development of amyotrophic lateral sclerosis. Neurotoxicology (2009) 1.24
Trafficking of alpha4* nicotinic receptors revealed by superecliptic phluorin: effects of a beta4 amyotrophic lateral sclerosis-associated mutation and chronic exposure to nicotine. J Biol Chem (2011) 1.07
Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS. Dis Model Mech (2009) 1.06
Exposure to environmental toxicants and pathogenesis of amyotrophic lateral sclerosis: state of the art and research perspectives. Int J Mol Sci (2013) 0.98
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD. Neurobiol Aging (2011) 0.94
New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. BMC Bioinformatics (2008) 0.89
Therapy development in spinal muscular atrophy. Nat Neurosci (2010) 0.88
Mutant human β4 subunit identified in amyotrophic lateral sclerosis patients impairs nicotinic receptor function. Pflugers Arch (2010) 0.84
Association between extremely low-frequency electromagnetic fields occupations and amyotrophic lateral sclerosis: a meta-analysis. PLoS One (2012) 0.82
The association between ALS and population density: A population based study. Amyotroph Lateral Scler (2010) 0.81
Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population. Neurol Sci (2014) 0.77
Current and future directions in genomics of amyotrophic lateral sclerosis. Phys Med Rehabil Clin N Am (2008) 0.77
How does the genetic assassin select its neuronal target? Mamm Genome (2011) 0.77
DNA-triggered aggregation of copper, zinc superoxide dismutase in the presence of ascorbate. PLoS One (2010) 0.75
The Neurotoxic TAU45-230 Fragment Accumulates in Upper and Lower Motor Neurons in Amyotrophic Lateral Sclerosis Subjects. Mol Med (2016) 0.75
Novel group-based QSAR and combinatorial design of CK-1δ inhibitors as neuroprotective agents. BMC Bioinformatics (2016) 0.75
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain (2006) 5.36
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet (2003) 4.19
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol (2011) 3.73
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol (2012) 3.04
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation. Epilepsia (2008) 2.81
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med (2012) 2.65
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol (2011) 2.55
An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathology (2011) 2.16
Genotyping pooled DNA on microarrays: a systematic genome screen of thousands of SNPs in large samples to detect QTLs for complex traits. Behav Genet (2004) 2.14
Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis? J Neurol Neurosurg Psychiatry (2012) 2.07
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2009) 2.03
ALSOD: the Amyotrophic Lateral Sclerosis Online Database. Amyotroph Lateral Scler (2008) 1.89
A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays. Nucleic Acids Res (2005) 1.71
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet (2012) 1.71
Genotyping DNA pools on microarrays: tackling the QTL problem of large samples and large numbers of SNPs. BMC Genomics (2005) 1.68
Low index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerability. J Neurol Neurosurg Psychiatry (2011) 1.67
Meta-analysis of linkage studies for Alzheimer's disease--a web resource. Neurobiol Aging (2009) 1.65
Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. J Neurol (2006) 1.61
Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nat Genet (2013) 1.57
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet (2008) 1.46
ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat (2012) 1.45
Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases. Amyotroph Lateral Scler (2011) 1.34
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet (2003) 1.29
A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum Genet (2005) 1.20
The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci. PLoS One (2009) 1.19
RNA metabolism and the pathogenesis of motor neuron diseases. Trends Neurosci (2010) 1.15
Common genetic variants and gene-expression changes associated with bipolar disorder are over-represented in brain signaling pathway genes. Biol Psychiatry (2012) 1.15
Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives. Amyotroph Lateral Scler (2009) 1.11
The risk to relatives of patients with sporadic amyotrophic lateral sclerosis. Brain (2011) 1.09
Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder? J Neurol Neurosurg Psychiatry (2007) 1.09
A proposed staging system for amyotrophic lateral sclerosis. Brain (2012) 1.08
Latent cluster analysis of ALS phenotypes identifies prognostically differing groups. PLoS One (2009) 1.06
A common haplotype within the PON1 promoter region is associated with sporadic ALS. Amyotroph Lateral Scler (2008) 1.02
Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes. Hum Mol Genet (2013) 1.02
The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis (2012) 1.02
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging (2012) 1.02
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. Hum Mutat (2002) 1.02
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2009) 1.01
Large-scale pathways-based association study in amyotrophic lateral sclerosis. Brain (2007) 0.98
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2013) 0.98
Geographical clustering of amyotrophic lateral sclerosis in South-East England: a population study. Neuroepidemiology (2008) 0.98
The heterogeneity of amyotrophic lateral sclerosis: a possible explanation of treatment failure. Curr Med Chem (2007) 0.96
Survival of patients with ALS following institution of enteral feeding is related to pre-procedure oximetry: a retrospective review of 98 patients in a single centre. Amyotroph Lateral Scler (2006) 0.96
Infection of the central nervous system, sepsis and amyotrophic lateral sclerosis. PLoS One (2011) 0.95
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One (2012) 0.95
Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality. Neurogenetics (2007) 0.95
Quantifying disease progression in amyotrophic lateral sclerosis. Ann Neurol (2014) 0.94
The sex ratio in amyotrophic lateral sclerosis: A population based study. Amyotroph Lateral Scler (2010) 0.94
No association of DPP6 with amyotrophic lateral sclerosis in an Italian population. Neurobiol Aging (2009) 0.94
Current pathways for epidemiological research in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2013) 0.94
A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet (2010) 0.92
Electrical injury and amyotrophic lateral sclerosis: a systematic review of the literature. J Neurol Neurosurg Psychiatry (2006) 0.91
Amyotrophic lateral sclerosis and cancer: a register-based study in Sweden. Amyotroph Lateral Scler Frontotemporal Degener (2013) 0.90
Young-onset amyotrophic lateral sclerosis: historical and other observations. Brain (2012) 0.90
Three soccer playing friends with simultaneous amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2007) 0.88
The El Escorial criteria: strengths and weaknesses. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.88
H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiol Aging (2012) 0.87
Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2007) 0.86
Infrastructure resources for clinical research in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2013) 0.85
Homozygosity analysis in amyotrophic lateral sclerosis. Eur J Hum Genet (2013) 0.84
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol (2014) 0.83
Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat. Neurobiol Aging (2013) 0.83
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients. Neurobiol Aging (2012) 0.82
Prognostic categories for amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2012) 0.82
The evaluation of pain in amyotrophic lateral sclerosis: a case controlled observational study. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.81
The association between ALS and population density: A population based study. Amyotroph Lateral Scler (2010) 0.81
Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD). JMIR Mhealth Uhealth (2013) 0.81
Interaction between PON1 and population density in amyotrophic lateral sclerosis. Neuroreport (2009) 0.81
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Hum Mol Genet (2013) 0.80
No evidence for a large difference in ALS frequency in populations of African and European origin: a population based study in inner city London. Amyotroph Lateral Scler (2012) 0.80
Comparison of two percutaneous radiological gastrostomy tubes in the nutritional management of ALS patients. Amyotroph Lateral Scler Other Motor Neuron Disord (2005) 0.79
Cortical involvement in four cases of primary lateral sclerosis using [(11)C]-flumazenil PET. J Neurol (2007) 0.79
Susceptibility genes in sporadic ALS: separating the wheat from the chaff by international collaboration. Neurology (2006) 0.79
Health utility decreases with increasing clinical stage in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.79
MaGIC: a program to generate targeted marker sets for genome-wide association studies. Biotechniques (2004) 0.79
Molecular insights and therapeutic targets in amyotrophic lateral sclerosis. CNS Neurol Disord Drug Targets (2008) 0.79
Association of a Serotonin Receptor 2A Gene Polymorphism with Visual Sustained Attention in Early-Onset Schizophrenia Patients and their Non-Psychotic Siblings. Aging Dis (2012) 0.78
Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice. Neurobiol Dis (2013) 0.78
Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis. J Neurol (2015) 0.78
The multidisciplinary clinic, quality of life and survival in motor neuron disease. J Neurol (2007) 0.77
Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.77
Evidence of an environmental effect on survival in ALS. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.77
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis. Neurobiol Aging (2010) 0.76
Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.76
Birth order and the genetics of amyotrophic lateral sclerosis. J Neurol (2007) 0.76
Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging (2012) 0.76
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis. Neurogenetics (2003) 0.76
Credibility analysis of putative disease-causing genes using bioinformatics. PLoS One (2013) 0.76
Psychological as well as illness factors influence acceptance of non-invasive ventilation (NIV) and gastrostomy in amyotrophic lateral sclerosis (ALS): a prospective population study. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.75
Eating-derived pleasure in amyotrophic lateral sclerosis as a predictor of non-oral feeding. Amyotroph Lateral Scler (2012) 0.75
Early symptom progression rate is related to ALS outcome: a prospective population-based study. Neurology (2002) 0.75
Mushroom-cage gastrostomy tube placement in patients with amyotrophic lateral sclerosis: a 5-year experience in 104 patients in a single institution. Eur Radiol (2009) 0.75
Chapter 14 Familial amyotrophic lateral sclerosis. Handb Clin Neurol (2007) 0.75