Published in Arch Neurol on February 01, 2004
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol (2007) 0.92
Parkinsonism in spinocerebellar ataxia. Biomed Res Int (2015) 0.77
Spinocerebellar ataxia type 17: latest member of polyglutamine disease group highlights unanswered questions. Arch Neurol (2004) 0.76
Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings. Ann Indian Acad Neurol (2013) 0.75
The Pathogenic Role of Low Range Repeats in SCA17. PLoS One (2015) 0.75
Early-onset SCA17 with 43 TBP repeats: expanding the phenotype? Neurol Sci (2011) 0.75
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet (2009) 8.11
Mutations of optineurin in amyotrophic lateral sclerosis. Nature (2010) 4.54
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Rivaroxaban vs. warfarin in Japanese patients with atrial fibrillation – the J-ROCKET AF study –. Circ J (2012) 3.70
Low-dose aspirin for prevention of stroke in low-risk patients with atrial fibrillation: Japan Atrial Fibrillation Stroke Trial. Stroke (2005) 2.56
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. Lancet Neurol (2006) 1.92
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet (2004) 1.91
Statistical image analysis of cerebral blood flow in vascular dementia with small-vessel disease. J Nucl Med (2003) 1.73
Does donepezil treatment slow the progression of hippocampal atrophy in patients with Alzheimer's disease? Am J Psychiatry (2005) 1.71
Randomized, multicenter, warfarin-controlled phase II study of edoxaban in Japanese patients with non-valvular atrial fibrillation. Circ J (2012) 1.67
Interleukin 6 signaling promotes anti-aquaporin 4 autoantibody production from plasmablasts in neuromyelitis optica. Proc Natl Acad Sci U S A (2011) 1.60
Diagonal ear-lobe crease is correlated with atherosclerotic changes in carotid arteries. Circ J (2009) 1.52
Lifetime risk of stroke and impact of hypertension: estimates from the adult health study in Hiroshima and Nagasaki. Hypertens Res (2011) 1.50
High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease. J Neurol Sci (2006) 1.49
Akinetic mutism caused by HIV-associated progressive multifocal leukoencephalopathy was successfully treated with mefloquine: a serial multimodal MRI Study. Intern Med (2012) 1.42
Greater Severity of Neurological Defects in Women Admitted With Atrial Fibrillation-Related Stroke. Circ J (2015) 1.40
Increased variability of axonal excitability in amyotrophic lateral sclerosis. Clin Neurophysiol (2013) 1.38
Siah-1 facilitates ubiquitination and degradation of synphilin-1. J Biol Chem (2003) 1.33
Prognostic value of subacute crossed cerebellar diaschisis: single-photon emission CT study in patients with middle cerebral artery territory infarct. AJNR Am J Neuroradiol (2002) 1.26
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. Am J Hum Genet (2003) 1.24
Accelerated hippocampal atrophy in Alzheimer's disease with apolipoprotein E epsilon4 allele. Ann Neurol (2002) 1.23
LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease. Mov Disord (2009) 1.22
Amelioration of hippocampal neuronal damage after transient forebrain ischemia in cyclooxygenase-2-deficient mice. J Cereb Blood Flow Metab (2004) 1.20
Voltage-gated potassium channel complex antibodies in Creutzfeldt-Jakob disease. J Neurol (2012) 1.17
Carotid intima-media thickness and risk of cardiovascular events in high-risk patients. Results of the Osaka Follow-Up Study for Carotid Atherosclerosis 2 (OSACA2 Study). Cerebrovasc Dis (2007) 1.09
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology (2013) 1.09
Frequency of asymptomatic microbleeds on T2*-weighted MR images of patients with recurrent stroke: association with combination of stroke subtypes and leukoaraiosis. AJNR Am J Neuroradiol (2004) 1.05
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging (2012) 1.05
Involvement of ICAM-1 in the progression of atherosclerosis in APOE-knockout mice. Atherosclerosis (2002) 1.04
A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. J Neurol Sci (2013) 1.04
Acceleration effect of human recombinant bone morphogenetic protein-2 on differentiation of human pulp cells into odontoblasts. J Endod (2004) 1.03
Antibodies to N-methyl-D-aspartate glutamate receptors in Creutzfeldt-Jakob disease patients. J Neuroimmunol (2012) 1.03
Type 2 diabetes mellitus in obese mouse model induced by monosodium glutamate. Exp Anim (2006) 1.02
Increased proliferation of neural progenitor cells but reduced survival of newborn cells in the contralateral hippocampus after focal cerebral ischemia in rats. J Cereb Blood Flow Metab (2002) 1.02
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet (2012) 1.02
Carotid artery intima-media thickness and plaque score for the risk assessment of stroke subtypes. Ultrasound Med Biol (2002) 1.01
Aortic pulse wave velocity predicts cardiovascular mortality in middle-aged and elderly Japanese men. Circ J (2009) 1.01
Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis. J Neurol Sci (2009) 1.01
A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data. BMC Bioinformatics (2010) 1.00
Diffusion tensor imaging of peripheral nerve in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a feasibility study. Neuroradiology (2011) 1.00
Sympathetic disturbances increase risk of sudden cardiac arrest in sporadic ALS. J Neurol Sci (2007) 1.00
Detection of cervical nerve root hypertrophy by ultrasonography in chronic inflammatory demyelinating polyradiculoneuropathy. J Neurol Sci (2004) 1.00
No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population. Retina (2006) 0.99
Hypoxic stress activates chaperone-mediated autophagy and modulates neuronal cell survival. Neurochem Int (2012) 0.99
Immunopositivity for ESCRT-III subunit CHMP2B in granulovacuolar degeneration of neurons in the Alzheimer's disease hippocampus. Neurosci Lett (2010) 0.98
Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma. J Neurol Sci (2006) 0.97
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. Am J Med Genet (2002) 0.96
Association between central systolic blood pressure, white matter lesions in cerebral MRI and carotid atherosclerosis. Hypertens Res (2009) 0.95
Degeneration of dementia with Lewy bodies measured by diffusion tensor imaging. NMR Biomed (2009) 0.95
Identification and characterization of a novel Pyk2/related adhesion focal tyrosine kinase-associated protein that inhibits alpha-synuclein phosphorylation. J Biol Chem (2003) 0.95
Abundance of aspargynyl-hydroxylase FIH is regulated by Siah-1 under normoxic conditions. Neurosci Lett (2008) 0.95
Treatment of neuromyelitis optica: current debate. Ther Adv Neurol Disord (2008) 0.95
Cytotoxic edema in neuro-Behcet's disease ? Intern Med (2008) 0.95
Risk factor profile and management of cerebrovascular patients in the REACH Registry. Cerebrovasc Dis (2008) 0.95
LIF-free embryonic stem cell culture in simulated microgravity. PLoS One (2009) 0.95
Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. J Biol Chem (2005) 0.94
Ultrasonographic reference sizes of the median and ulnar nerves and the cervical nerve roots in healthy Japanese adults. Ultrasound Med Biol (2013) 0.93
Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation. Acta Neuropathol (2011) 0.93
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. BMC Neurol (2014) 0.93
The effect of mineral trioxide aggregate on the mineralization ability of rat dental pulp cells: an in vitro study. J Endod (2008) 0.93
Brush sign on 3-T T2*-weighted MRI as a potential predictor of hemorrhagic transformation after tissue plasminogen activator therapy. Stroke (2013) 0.92
Cancer-associated ischemic stroke is associated with elevated D-dimer and fibrin degradation product levels in acute ischemic stroke with advanced cancer. Geriatr Gerontol Int (2012) 0.92
Nationwide survey of acute juvenile female non-herpetic encephalitis in Japan: relationship to anti-N-methyl-D-aspartate receptor encephalitis. Intern Med (2009) 0.92
[Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene]. Rinsho Shinkeigaku (2009) 0.92
The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord (2005) 0.91
Comparison between oscillometric- and Doppler-ABI in elderly individuals. Vasc Health Risk Manag (2013) 0.91
Hypoxia-induced upregulation of endothelial small G protein RhoA and Rho-kinase/ROCK2 inhibits eNOS expression. Neurosci Lett (2006) 0.90