Published in Brain Dev on March 01, 2003
Mapping human genetic diversity in Asia. Science (2009) 7.40
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet (2013) 4.71
Poly(ADP-ribose) (PAR) polymer is a death signal. Proc Natl Acad Sci U S A (2006) 3.41
DJ-1 gene deletion reveals that DJ-1 is an atypical peroxiredoxin-like peroxidase. Proc Natl Acad Sci U S A (2007) 2.87
IL-17A produced by gammadelta T cells plays a critical role in innate immunity against listeria monocytogenes infection in the liver. J Immunol (2008) 2.49
Failure to degrade poly(ADP-ribose) causes increased sensitivity to cytotoxicity and early embryonic lethality. Proc Natl Acad Sci U S A (2004) 2.20
Loss of locus coeruleus neurons and reduced startle in parkin null mice. Proc Natl Acad Sci U S A (2004) 1.99
Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet (2006) 1.83
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling. Proc Natl Acad Sci U S A (2009) 1.65
Autoantibodies and cell-mediated autoimmunity to NMDA-type GluRepsilon2 in patients with Rasmussen's encephalitis and chronic progressive epilepsia partialis continua. Epilepsia (2005) 1.65
High-level expression of the coxsackievirus and adenovirus receptor messenger RNA in osteosarcoma, Ewing's sarcoma, and benign neurogenic tumors among musculoskeletal tumors. Clin Cancer Res (2004) 1.64
Gene expression profiling of Japanese psoriatic skin reveals an increased activity in molecular stress and immune response signals. J Mol Med (Berl) (2005) 1.62
Efficacy of intravenous midazolam for status epilepticus in childhood. Pediatr Neurol (2007) 1.58
Genetics of Behçet disease inside and outside the MHC. Ann Rheum Dis (2009) 1.55
Proteomic analysis of rat liver peroxisome: presence of peroxisome-specific isozyme of Lon protease. J Biol Chem (2003) 1.53
Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan. Brain Dev (2003) 1.48
Transcriptional activation of survivin through the NF-kappaB pathway by human T-cell leukemia virus type I tax. Int J Cancer (2005) 1.46
Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. Brain Dev (2010) 1.45
An 11-year-old boy with familial hypercholesterolemia showing multiple xanthomas and advanced atherosclerosis, who responded to lipid-lowering therapy using statin. J Atheroscler Thromb (2009) 1.45
Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children. Brain Dev (2009) 1.42
Executive summary of the Japan Atherosclerosis Society (JAS) guidelines for the diagnosis and prevention of atherosclerotic cardiovascular diseases in Japan -2012 version. J Atheroscler Thromb (2013) 1.42
Detection of serum anti-ganglioside antibodies by latex agglutination assay in Guillain-Barré syndrome: comparison with ELISA. Intern Med (2003) 1.40
Response switching process in children with attention-deficit-hyperactivity disorder on the novel continuous performance test. Dev Med Child Neurol (2008) 1.40
Hepatoblastoma in a patient with sotos syndrome. J Pediatr (2009) 1.40
Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome? Brain Dev (2007) 1.39
Unexpected lack of hypersensitivity in LRRK2 knock-out mice to MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine). J Neurosci (2009) 1.36
Whole genome association study of rheumatoid arthritis using 27 039 microsatellites. Hum Mol Genet (2005) 1.36
Pioglitazone prevents alcohol-induced fatty liver in rats through up-regulation of c-Met. Gastroenterology (2004) 1.35
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia (2013) 1.35
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics (2013) 1.32
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. J Neurol (2011) 1.29
Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes. Brain Dev (2011) 1.26
The effect of orexin-A on the pathological mechanism in the rat focal cerebral ischemia. Neurosci Res (2010) 1.24
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet (2011) 1.24
Differences in the time course of splenial and white matter lesions in clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). J Neurol Sci (2010) 1.24
Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen. Blood (2007) 1.23
Improvement in PET/CT image quality with a combination of point-spread function and time-of-flight in relation to reconstruction parameters. J Nucl Med (2012) 1.20
Propranolol as an alternative treatment option for pediatric lymphatic malformation. Tohoku J Exp Med (2013) 1.19
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. Am J Med Genet A (2004) 1.19
Unsuspected gallbladder cancer diagnosed during or after laparoscopic cholecystectomy. J Surg Oncol (2008) 1.18
The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet (2007) 1.17
Comparison of 18FDG-PET with 99mTc-HMDP scintigraphy for the detection of bone metastases in patients with breast cancer. Ann Nucl Med (2005) 1.17
Guidelines for the management of familial hypercholesterolemia. J Atheroscler Thromb (2012) 1.16
Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. Carcinogenesis (2010) 1.15
Unilateral occlusion of the middle cerebral artery after varicella-zoster virus infection. Brain Dev (2002) 1.14
An analysis of the physiological FDG uptake pattern in the stomach. Ann Nucl Med (2003) 1.11
Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia. Proc Natl Acad Sci U S A (2008) 1.09
Impact of FDG-PET/CT in the management of lymphoma. Ann Nucl Med (2011) 1.08
Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression. Cereb Cortex (2010) 1.08
Growth dynamics of domains in ternary fluid vesicles. Biophys J (2006) 1.08
Pulmonary tumor thrombotic microangiopathy: FDG-PET/CT findings. Clin Nucl Med (2009) 1.07
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Am J Hum Genet (2002) 1.07
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS One (2013) 1.06
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. Mol Genet Metab (2002) 1.06
N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease. Biochim Biophys Acta (2004) 1.05
The neural network for the mirror system and mentalizing in normally developed children: an fMRI study. Neuroreport (2004) 1.05
Importance of murine Vdelta1gammadelta T cells expressing interferon-gamma and interleukin-17A in innate protection against Listeria monocytogenes infection. Immunology (2008) 1.04
Amino acid copolymer-specific IL-10-secreting regulatory T cells that ameliorate autoimmune diseases in mice. Proc Natl Acad Sci U S A (2008) 1.04
Brachial and lumbar plexuses in chronic inflammatory demyelinating polyradiculoneuropathy: MRI assessment including apparent diffusion coefficient. Neuroradiology (2010) 1.04
Cerebral blood flow and vasodilatory capacity in anemia secondary to chronic renal failure. Kidney Int (2002) 1.04
Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population. Hum Mutat (2004) 1.03
Retracted Curcumin (diferuloylmethane) inhibits constitutive active NF-kappaB, leading to suppression of cell growth of human T-cell leukemia virus type I-infected T-cell lines and primary adult T-cell leukemia cells. Int J Cancer (2006) 1.02
Treatment with IL-27 attenuates experimental colitis through the suppression of the development of IL-17-producing T helper cells. Am J Physiol Gastrointest Liver Physiol (2010) 1.02
Promoting tolerance to proteolipid protein-induced experimental autoimmune encephalomyelitis through targeting dendritic cells. Proc Natl Acad Sci U S A (2010) 1.01
Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood. Epilepsy Res (2010) 1.00
Anti-adult T-cell leukemia effects of brown algae fucoxanthin and its deacetylated product, fucoxanthinol. Int J Cancer (2008) 1.00
Retracted Dengue virus-induced apoptosis in hepatic cells is partly mediated by Apo2 ligand/tumour necrosis factor-related apoptosis-inducing ligand. J Gen Virol (2005) 1.00
Sentinel node detection with (99m)Tc phytate alone is satisfactory for cervical cancer patients undergoing radical hysterectomy and pelvic lymphadenectomy. Int J Clin Oncol (2010) 1.00
Birthweight and risk factors for cardiovascular diseases in Japanese schoolchildren. Pediatr Int (2007) 0.99
Novel deletion mutation in GFAP gene in an infantile form of Alexander disease. Pediatr Neurol (2008) 0.99
Single nucleotide polymorphisms and outcome risk in unrelated mismatched hematopoietic stem cell transplantation: an exploration study. Blood (2012) 0.98
A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. Brain Dev (2003) 0.98
MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). Brain Dev (2012) 0.98
A history of our understanding of cerebral vascular development and pathogenesis of perinatal brain damage over the past 30 years. Semin Pediatr Neurol (2009) 0.98
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat (2013) 0.98
Fucoidan extracted from Cladosiphon okamuranus Tokida induces apoptosis of human T-cell leukemia virus type 1-infected T-cell lines and primary adult T-cell leukemia cells. Nutr Cancer (2005) 0.97
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. Arch Neurol (2008) 0.97
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. Am J Med Genet A (2004) 0.96
Genomewide association analysis of human narcolepsy and a new resistance gene. Am J Hum Genet (2006) 0.96
Infantile botulism caused by Clostridium butyricum type E toxin. Pediatr Neurol (2008) 0.96
Diagnostic and prognostic value of pretreatment SUV in 18F-FDG/PET in breast cancer: comparison with apparent diffusion coefficient from diffusion-weighted MR imaging. J Nucl Med (2014) 0.96
Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype. Hum Mutat (2015) 0.95
Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscul Disord (2011) 0.95
Diagnosis and management of type I and type V hyperlipoproteinemia. J Atheroscler Thromb (2011) 0.95
Self-face recognition in children with autism spectrum disorders: a near-infrared spectroscopy study. Brain Dev (2010) 0.95
Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. Neuroradiology (2009) 0.95
Identification, expression analysis and polymorphism of a novel RLTPR gene encoding a RGD motif, tropomodulin domain and proline/leucine-rich regions. Gene (2004) 0.95
EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally. Hum Mutat (2009) 0.95