Published in Am J Hum Genet on January 21, 2003
Identification of Dlk1, Ptpru and Klhl1 as novel Nurr1 target genes in meso-diencephalic dopamine neurons. Development (2009) 1.08
SCA8 repeat expansion coexists with SCA1--not only with SCA6. Am J Hum Genet (2003) 0.93
Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports. J Neurol Neurosurg Psychiatry (2004) 0.89
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet (2004) 0.85
Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet (2010) 0.83
Parkinsonism in spinocerebellar ataxia. Biomed Res Int (2015) 0.77
SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications. Hum Genet (2009) 0.77
Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease. J Clin Neurol (2013) 0.76
Bolivian kindred with combined spinocerebellar ataxia types 2 and 10. Acta Neurol Scand (2015) 0.75
Genetic and molecular aspects of spinocerebellar ataxias. Neuropsychiatr Dis Treat (2005) 0.75
Altered GABAergic system in the living brain of a patient with spinocerebellar ataxia type 8. J Neurol (2013) 0.75
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell (2002) 4.44
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet (1999) 4.15
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet (1997) 4.12
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell (2002) 4.05
A decade of molecular studies of fragile X syndrome. Annu Rev Neurosci (2002) 3.54
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet (2000) 1.17
Spinocerebellar ataxia type 8: clinical features in a large family. Neurology (2000) 1.10
Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6. J Neurosci (1999) 1.10
SCA8 repeat expansions in ataxia: a controversial association. Neurology (2001) 1.06
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet (2000) 1.05
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol (2000) 1.03
An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. Am J Hum Genet (2000) 0.97
The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. Am J Hum Genet (1998) 0.97
Are (CTG)n expansions at the SCA8 locus rare polymorphisms? Nat Genet (2000) 0.96
Genetic testing in spinocerebellar ataxias: defining a clinical role. Arch Neurol (2001) 0.95
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet (2000) 0.89
The unstable trinucleotide repeat story of major psychosis. Am J Med Genet (2000) 0.87
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. Neurology (2000) 0.87
Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy. Arch Neurol (2001) 0.82
Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI. J Neurol Sci (2000) 0.82
[A familial case of spinocerebellar ataxia type 8 (SCA 8)--its clinical findings and an issue about the genetic basis]. Rinsho Shinkeigaku (2000) 0.79
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
Drug screening for ALS using patient-specific induced pluripotent stem cells. Sci Transl Med (2012) 2.80
Epidemiological study of gastroenteropancreatic neuroendocrine tumors in Japan. J Gastroenterol (2010) 2.18
Increased expression of HIP/PAP and regenerating gene III in human inflammatory bowel disease and a murine bacterial reconstitution model. Inflamm Bowel Dis (2003) 2.09
[A case of Parkinson's disease following restless genial sensation]. Rinsho Shinkeigaku (2015) 2.01
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. Lancet Neurol (2006) 1.92
Spontaneous remission of a massive CNS inflammation with eosinophilic infiltrate. Intern Med (2003) 1.73
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol (2004) 1.58
Outcomes after pylorus-preserving gastrectomy for early gastric cancer: a prospective multicenter trial. World J Surg (2004) 1.53
High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease. J Neurol Sci (2006) 1.49
Rapid immunohistochemistry based on alternating current electric field for intraoperative diagnosis of brain tumors. Brain Tumor Pathol (2014) 1.49
POEMS syndrome demonstrating VEGF decrease by ticlopidine. Intern Med (2004) 1.42
Parkinson's disease following panic disorder. J Neuropsychiatry Clin Neurosci (2006) 1.42
A shift from colon- to ileum-predominant bacteria in ileal-pouch feces following total proctocolectomy. Dig Dis Sci (2012) 1.40
Cerebral hypoperfusion accelerates cerebral amyloid angiopathy and promotes cortical microinfarcts. Acta Neuropathol (2011) 1.34
Selective infiltration of CCR5(+)CXCR3(+) T lymphocytes in human colorectal carcinoma. Int J Cancer (2005) 1.34
Morphine analgesia suppresses tumor growth and metastasis in a mouse model of cancer pain produced by orthotopic tumor inoculation. Eur J Pharmacol (2002) 1.32
Vascular endothelial growth factor increases fenestral permeability in hepatic sinusoidal endothelial cells. Liver Int (2003) 1.24
Immunohistochemical identification of messenger RNA-related proteins in basophilic inclusions of adult-onset atypical motor neuron disease. Acta Neuropathol (2008) 1.22
LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease. Mov Disord (2009) 1.22
Down syndrome candidate region 1,a downstream target of VEGF, participates in endothelial cell migration and angiogenesis. J Vasc Res (2004) 1.20
Motor neuron-specific disruption of proteasomes, but not autophagy, replicates amyotrophic lateral sclerosis. J Biol Chem (2012) 1.15
Inhibitor of apoptosis protein family as diagnostic markers and therapeutic targets of colorectal cancer. Surg Today (2011) 1.14
Differential expression of mucosal addressin cell adhesion molecule-1 (MAdCAM-1) in ulcerative colitis and Crohn's disease. Pathol Int (2002) 1.12
A collaborative study on the malignant syndrome in Parkinson's disease and related disorders. Parkinsonism Relat Disord (2003) 1.11
Tortuosity of the white matter medullary arterioles is related to the severity of hypertension. Cerebrovasc Dis (2002) 1.11
Early protective effect of bone marrow mononuclear cells against ischemic white matter damage through augmentation of cerebral blood flow. Stroke (2010) 1.11
Cortical microinfarcts in Alzheimer's disease and subcortical vascular dementia. Neuroreport (2009) 1.11
A mouse model characterizing features of vascular dementia with hippocampal atrophy. Stroke (2010) 1.11
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology (2013) 1.09
Characterization of the organic cation transporter SLC22A16: a doxorubicin importer. Biochem Biophys Res Commun (2005) 1.08
Preliminary results of a Japanese nationwide survey of neuroendocrine gastrointestinal tumors. J Gastroenterol (2007) 1.05
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
Tyrosine 125 of alpha-synuclein plays a critical role for dimerization following nitrative stress. Brain Res (2002) 1.05
Selective white matter abnormalities in a novel rat model of vascular dementia. Neurobiol Aging (2011) 1.05
Down-regulation of cIAP2 enhances 5-FU sensitivity through the apoptotic pathway in human colon cancer cells. Cancer Sci (2009) 1.04
Distribution and localization of caveolin-1 in sinusoidal cells in rat liver. Med Electron Microsc (2003) 1.04
Environmental enrichment ameliorated high-fat diet-induced Aβ deposition and memory deficit in APP transgenic mice. Neurobiol Aging (2011) 1.04
IFSO-APC consensus statements 2011. Obes Surg (2012) 1.03
Type 2 diabetes mellitus in obese mouse model induced by monosodium glutamate. Exp Anim (2006) 1.02
Transcriptional regulation of human angiopoietin-2 by transcription factor Ets-1. Biochem Biophys Res Commun (2004) 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
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
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
Clinical features of malignant syndrome in Parkinson's disease and related neurological disorders. Parkinsonism Relat Disord (2003) 0.99
Endothelial markers and adhesion molecules in acute ischemic stroke--sequential change and differences in stroke subtype. Atherosclerosis (2002) 0.99
Phosphorylated Smad2/3 immunoreactivity in sporadic and familial amyotrophic lateral sclerosis and its mouse model. Acta Neuropathol (2008) 0.99
A rare case of invasive ductal carcinoma with hyperprolactinemia. Breast Cancer (2007) 0.98
Postoperative long-term evaluation of interposition reconstruction compared with Roux-en-Y after total gastrectomy in gastric cancer: prospective randomized controlled trial. Am J Surg (2011) 0.98
Current status of pylorus-preserving gastrectomy for the treatment of gastric cancer: a questionnaire survey and review of literatures. World J Surg (2012) 0.97
Prevention and treatment of malignant syndrome in Parkinson's disease: a consensus statement of the malignant syndrome research group. Parkinsonism Relat Disord (2003) 0.97
Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma. J Neurol Sci (2006) 0.97
Rho modulates hepatic sinusoidal endothelial fenestrae via regulation of the actin cytoskeleton in rat endothelial cells. Lab Invest (2004) 0.97
cIAP2 as a therapeutic target in colorectal cancer and other malignancies. Expert Opin Ther Targets (2009) 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
Early diagnosis and early corticosteroid administration improves healing of peristomal pyoderma gangrenosum in inflammatory bowel disease. Dis Colon Rectum (2009) 0.95
5-fu metabolism in cancer and orally-administrable 5-fu drugs. Cancers (Basel) (2010) 0.95
Cronkhite-Canada syndrome complicated with huge intramucosal gastric cancer. Gastric Cancer (2009) 0.95
Cytotoxic edema in neuro-Behcet's disease ? Intern Med (2008) 0.95
An international, multicenter, prospective, observational study of the side-to-side isoperistaltic strictureplasty in Crohn's disease. Dis Colon Rectum (2007) 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
Orthotopic implantation mouse model and cDNA microarray analysis indicates several genes potentially involved in lymph node metastasis of colorectal cancer. Cancer Sci (2008) 0.94
Nitric oxide induces caspase-dependent apoptosis and necrosis in neonatal rat cardiomyocytes. J Mol Cell Cardiol (2002) 0.94
Hand-assisted laparoscopic vs. open subtotal colectomy for severe ulcerative colitis. Dis Colon Rectum (2009) 0.94
Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation. Acta Neuropathol (2011) 0.93
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. J Neurol Neurosurg Psychiatry (2012) 0.93
Nuclear contour irregularity and abnormal transporter protein distribution in anterior horn cells in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol (2009) 0.93
A hepatic sclerosed hemangioma with significant morphological change over a period of 10 years: a case report. J Med Case Rep (2013) 0.93