Published in Invest Ophthalmol Vis Sci on July 01, 2011
Distinct changes in synaptic protein composition at neuromuscular junctions of extraocular muscles versus limb muscles of ALS donors. PLoS One (2013) 0.88
Analysis of neurotrophic factors in limb and extraocular muscles of mouse model of amyotrophic lateral sclerosis. PLoS One (2014) 0.79
Wnt and extraocular muscle sparing in amyotrophic lateral sclerosis. Invest Ophthalmol Vis Sci (2014) 0.77
Adducin at the Neuromuscular Junction in Amyotrophic Lateral Sclerosis: Hanging on for Dear Life. Front Cell Neurosci (2016) 0.75
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
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet (2006) 3.88
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS One (2008) 3.09
Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria. Neuron (2004) 2.94
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol (2007) 2.80
A yeast functional screen predicts new candidate ALS disease genes. Proc Natl Acad Sci U S A (2011) 2.68
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med (2012) 2.65
Disulphide-reduced superoxide dismutase-1 in CNS of transgenic amyotrophic lateral sclerosis models. Brain (2005) 2.64
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet (2007) 2.63
Smoking and risk for amyotrophic lateral sclerosis: analysis of the EPIC cohort. Ann Neurol (2009) 2.56
Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis. Brain (2003) 2.30
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. Eur J Neurol (2011) 2.27
Soluble misfolded subfractions of mutant superoxide dismutase-1s are enriched in spinal cords throughout life in murine ALS models. Proc Natl Acad Sci U S A (2007) 1.95
Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants. Proc Natl Acad Sci U S A (2005) 1.94
Novel antibodies reveal inclusions containing non-native SOD1 in sporadic ALS patients. PLoS One (2010) 1.89
ALSOD: the Amyotrophic Lateral Sclerosis Online Database. Amyotroph Lateral Scler (2008) 1.89
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet (2008) 1.84
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. Hum Mol Genet (2009) 1.79
Minocycline prevents neurotoxicity induced by cerebrospinal fluid from patients with motor neurone disease. Brain (2002) 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
Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? J Neurol Neurosurg Psychiatry (2010) 1.68
Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nat Genet (2013) 1.57
Verotoxin-1 induction of apoptosis in Gb3-expressing human glioma cell lines. Cancer Biol Ther (2006) 1.46
Epidermal growth factor receptor family (EGFR, ErbB2-4) in gliomas and meningiomas. Acta Neuropathol (2004) 1.46
ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat (2012) 1.45
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium. Am J Epidemiol (2015) 1.27
Issues of diagnostic review in brain tumor studies: from the Brain Tumor Epidemiology Consortium. Cancer Epidemiol Biomarkers Prev (2008) 1.25
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet (2011) 1.24
Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1. J Neuropathol Exp Neurol (2006) 1.23
Amyotrophic lateral sclerosis-associated copper/zinc superoxide dismutase mutations preferentially reduce the repulsive charge of the proteins. J Biol Chem (2007) 1.20
Overloading of stable and exclusion of unstable human superoxide dismutase-1 variants in mitochondria of murine amyotrophic lateral sclerosis models. J Neurosci (2006) 1.18
Myosin heavy chain isoforms in human extraocular muscles. Invest Ophthalmol Vis Sci (2003) 1.14
Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis. Acta Neuropathol (2011) 1.13
Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis. Hum Mol Genet (2012) 1.12
Common variation at 10p12.31 near MLLT10 influences meningioma risk. Nat Genet (2011) 1.12
The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis (2011) 1.12
Immunolocalization of GQ1b and related gangliosides in human extraocular neuromuscular junctions and muscle spindles. Invest Ophthalmol Vis Sci (2009) 1.09
Cytoplasmic LRIG2 expression is associated with poor oligodendroglioma patient survival. Neuropathology (2009) 1.05
Prediagnostic body fat and risk of death from amyotrophic lateral sclerosis: the EPIC cohort. Neurology (2013) 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
SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management. Amyotroph Lateral Scler (2008) 1.01
Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2009) 1.01
Human extraocular muscles in ALS. Invest Ophthalmol Vis Sci (2010) 0.99
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
Distribution of laminins in the developing human eye. Invest Ophthalmol Vis Sci (2006) 0.98
Swedish population substructure revealed by genome-wide single nucleotide polymorphism data. PLoS One (2011) 0.97
Optimization of procedures for collecting and storing of CSF for studying the metabolome in ALS. Amyotroph Lateral Scler (2009) 0.97
MNS16A minisatellite genotypes in relation to risk of glioma and meningioma and to glioblastoma outcome. Int J Cancer (2009) 0.97
No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Amyotroph Lateral Scler Frontotemporal Degener (2012) 0.97
SOD1 mutations targeting surface hydrogen bonds promote amyotrophic lateral sclerosis without reducing apo-state stability. J Biol Chem (2010) 0.96
PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis. Hum Mol Genet (2013) 0.96
Uncoordinated expression of myosin heavy chains and myosin-binding protein C isoforms in human extraocular muscles. Invest Ophthalmol Vis Sci (2006) 0.95
Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality. Neurogenetics (2007) 0.95
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One (2012) 0.95
UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging (2011) 0.95
Proteins that bind to misfolded mutant superoxide dismutase-1 in spinal cords from transgenic amyotrophic lateral sclerosis (ALS) model mice. J Biol Chem (2011) 0.94
Fiber content and myosin heavy chain composition of muscle spindles in aged human biceps brachii. J Histochem Cytochem (2005) 0.94
Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients. J Neurochem (2011) 0.93
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany. Neurobiol Aging (2012) 0.93
A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis. Hum Mol Genet (2010) 0.92
The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2010) 0.92
A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet (2010) 0.92
pNfH is a promising biomarker for ALS. Amyotroph Lateral Scler Frontotemporal Degener (2012) 0.91
Superoxide dismutase-1 and other proteins in inclusions from transgenic amyotrophic lateral sclerosis model mice. J Neurochem (2010) 0.91
Myosin heavy chain composition of muscle spindles in human biceps brachii. J Histochem Cytochem (2002) 0.91
Interleukin-1alpha downregulates extracellular-superoxide dismutase in human corneal keratoconus stromal cells. Mol Vis (2007) 0.89
Diffusion tensor imaging in sporadic and familial (D90A SOD1) forms of amyotrophic lateral sclerosis. Arch Neurol (2009) 0.89
Distinct changes in synaptic protein composition at neuromuscular junctions of extraocular muscles versus limb muscles of ALS donors. PLoS One (2013) 0.88
A continuum of myofibers in adult rabbit extraocular muscle: force, shortening velocity, and patterns of myosin heavy chain colocalization. J Appl Physiol (1985) (2011) 0.88
Inclusions of amyotrophic lateral sclerosis-linked superoxide dismutase in ventral horns, liver, and kidney. Ann Neurol (2008) 0.88
Expression of verotoxin-1 receptor Gb3 in breast cancer tissue and verotoxin-1 signal transduction to apoptosis. BMC Cancer (2009) 0.88
ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations. Mol Genet Metab (2011) 0.87
Delayed acetyl-L-carnitine administration and its effect on sensory neuronal rescue after peripheral nerve injury. J Plast Reconstr Aesthet Surg (2006) 0.87
Genetic variations in EGF and EGFR and glioblastoma outcome. Neuro Oncol (2010) 0.87
Composition of soluble misfolded superoxide dismutase-1 in murine models of amyotrophic lateral sclerosis. Neuromolecular Med (2012) 0.87
H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiol Aging (2012) 0.87
Immunohistochemical analysis of LRIG proteins in meningiomas: correlation between estrogen receptor status and LRIG expression. J Neurooncol (2012) 0.87