Published in J Neurol Sci on October 25, 2008
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. Nat Med (2011) 2.60
Molecular chaperones and neuronal proteostasis. Semin Cell Dev Biol (2015) 0.91
Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice. Neurobiol Dis (2012) 0.88
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress. BBA Clin (2015) 0.79
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies. Front Mol Biosci (2016) 0.75
HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons. Exp Neurol (2017) 0.75
Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med (2011) 3.95
Primary age-related tauopathy (PART): a common pathology associated with human aging. Acta Neuropathol (2014) 3.75
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet (2008) 2.98
Prospective 10-year surveillance of human prion diseases in Japan. Brain (2010) 2.41
Curcumin has potent anti-amyloidogenic effects for Alzheimer's beta-amyloid fibrils in vitro. J Neurosci Res (2004) 2.23
Essential role of the microglial triggering receptor expressed on myeloid cells-2 (TREM2) for central nervous tissue immune homeostasis. J Neuroimmunol (2007) 2.08
Selectivity of silica species in ocean observed from seasonal and local changes. Spectrochim Acta A Mol Biomol Spectrosc (2012) 2.01
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet (2004) 1.91
Potent anti-amyloidogenic and fibril-destabilizing effects of polyphenols in vitro: implications for the prevention and therapeutics of Alzheimer's disease. J Neurochem (2003) 1.64
Polyneuropathy caused by cobalt-chromium metallosis after total hip replacement. Muscle Nerve (2010) 1.62
A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A. Acta Neuropathol (2008) 1.59
Partial volume effect-corrected FDG PET and grey matter volume loss in patients with mild Alzheimer's disease. Eur J Nucl Med Mol Imaging (2007) 1.58
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. J Hum Genet (2011) 1.52
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. J Hum Genet (2012) 1.52
Prevalence of spinocerebellar degenerations in the Hokuriku district in Japan. Neuroepidemiology (2009) 1.49
Immunoglobulin light-chain (AL) amyloidosis with myasthenic symptoms and echocardiographic features of dilated cardiomyopathy. Intern Med (2006) 1.46
R-spondin, a novel gene with thrombospondin type 1 domain, was expressed in the dorsal neural tube and affected in Wnts mutants. Biochim Biophys Acta (2004) 1.46
Effect of sample size for normal database on diagnostic performance of brain FDG PET for the detection of Alzheimer's disease using automated image analysis. Nucl Med Commun (2008) 1.42
Rapid scanning protocol for brain (18)F-FDG PET: a validation study. J Nucl Med (2005) 1.41
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet (2007) 1.36
Cerebral amyloid angiopathy plays a direct role in the pathogenesis of Alzheimer's disease. Pro-CAA position statement. Neurobiol Aging (2004) 1.36
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia (2013) 1.35
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol (2012) 1.34
Phenolic compounds prevent Alzheimer's pathology through different effects on the amyloid-beta aggregation pathway. Am J Pathol (2009) 1.30
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet (2013) 1.27
Antioxidant compounds have potent anti-fibrillogenic and fibril-destabilizing effects for alpha-synuclein fibrils in vitro. J Neurochem (2006) 1.27
Molecular analysis of congenital central hypoventilation syndrome. Hum Genet (2003) 1.23
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PLoS One (2013) 1.23
REVIEW: Curcumin and Alzheimer's disease. CNS Neurosci Ther (2010) 1.22
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia (2010) 1.19
Acute encephalitis caused by intrafamilial transmission of enterovirus 71 in adult. Emerg Infect Dis (2008) 1.19
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology (2013) 1.19
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet (2009) 1.17
Unloading kinesin transported cargoes from the tubulin track via the inflammatory c-Jun N-terminal kinase pathway. FASEB J (2006) 1.14
Anti-amyloidogenic activity of tannic acid and its activity to destabilize Alzheimer's beta-amyloid fibrils in vitro. Biochim Biophys Acta (2004) 1.10
CSF alpha-synuclein levels in dementia with Lewy bodies and Alzheimer's disease. Brain Res (2008) 1.10
Kinetic modeling and determination of reaction constants of Alzheimer's beta-amyloid fibril extension and dissociation using surface plasmon resonance. Biochemistry (2002) 1.08
Cross-seeding effects of amyloid β-protein and α-synuclein. J Neurochem (2012) 1.08
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. J Hum Genet (2005) 1.05
Phenolic compounds prevent amyloid β-protein oligomerization and synaptic dysfunction by site-specific binding. J Biol Chem (2012) 1.05
Non-steroidal anti-inflammatory drugs have anti-amyloidogenic effects for Alzheimer's beta-amyloid fibrils in vitro. Neuropharmacology (2005) 1.05
Standardization of metaiodobenzylguanidine heart to mediastinum ratio using a calibration phantom: effects of correction on normal databases and a multicentre study. Eur J Nucl Med Mol Imaging (2011) 1.04
Human CD4+ central and effector memory T cells produce IL-21: effect on cytokine-driven proliferation of CD4+ T cell subsets. Int Immunol (2007) 1.04
Association of an 11-12 kDa protease-resistant prion protein fragment with subtypes of dura graft-associated Creutzfeldt-Jakob disease and other prion diseases. J Gen Virol (2003) 1.03
Myoclonic involuntary movement associated with chronic manganese poisoning. J Neurol Sci (2002) 1.02
Severe hemorrhagic colitis caused by dasatinib in Philadelphia chromosome-positive acute lymphoblastic leukemia. Pediatr Hematol Oncol (2009) 1.01
Ferulic acid destabilizes preformed beta-amyloid fibrils in vitro. Biochem Biophys Res Commun (2005) 1.01
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. Tohoku J Exp Med (2005) 1.00
The development of preventives and therapeutics for Alzheimer's disease that inhibit the formation of beta-amyloid fibrils (fAbeta), as well as destabilize preformed fAbeta. Curr Pharm Des (2006) 0.99
Significance of 123I-MIBG scintigraphy as a pathophysiological indicator in the assessment of Parkinson's disease and related disorders: it can be a specific marker for Lewy body disease. Ann Nucl Med (2004) 0.98
Decreased beta-amyloid peptide42 in cerebrospinal fluid of patients with progressive supranuclear palsy and corticobasal degeneration. J Neurol Sci (2005) 0.98
Low-n oligomers as therapeutic targets of Alzheimer's disease. J Neurochem (2011) 0.98
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat (2013) 0.98
Brain FDG PET study of normal aging in Japanese: effect of atrophy correction. Eur J Nucl Med Mol Imaging (2005) 0.97
Fms-like tyrosine kinase 3 ligand stimulation induces MLL-rearranged leukemia cells into quiescence resistant to antileukemic agents. Cancer Res (2007) 0.97
TNF-related apoptosis-inducing ligand (TRAIL) frequently induces apoptosis in Philadelphia chromosome-positive leukemia cells. Blood (2002) 0.97
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia (2013) 0.96
Unusual circadian locomotor activity and pathophysiology in mutant CRY1 transgenic mice. Neurosci Lett (2009) 0.96
Nicotine breaks down preformed Alzheimer's beta-amyloid fibrils in vitro. Biol Psychiatry (2002) 0.95
Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res (2008) 0.95
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia (2012) 0.94
Allodynia in the flank after thalamic stroke. J Clin Neurosci (2006) 0.94
B-cell neurolymphomatosis confined to the peripheral nervous system. J Neurol Sci (2007) 0.94
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding. J Hum Genet (2012) 0.93
Striatal stimulation nurtures endogenous neurogenesis and angiogenesis in chronic-phase ischemic stroke rats. Cell Transplant (2010) 0.92
The anti-amyloidogenic effect is exerted against Alzheimer's beta-amyloid fibrils in vitro by preferential and reversible binding of flavonoids to the amyloid fibril structure. Biochemistry (2007) 0.92
Anti-amyloidogenic effects of antioxidants: implications for the prevention and therapeutics of Alzheimer's disease. Biochim Biophys Acta (2006) 0.92
Critical role of interfaces and agitation on the nucleation of Abeta amyloid fibrils at low concentrations of Abeta monomers. Biochim Biophys Acta (2010) 0.92
Non-steroidal anti-inflammatory drugs have potent anti-fibrillogenic and fibril-destabilizing effects for alpha-synuclein fibrils in vitro. Neuropharmacology (2007) 0.91
Vitamin A exhibits potent antiamyloidogenic and fibril-destabilizing effects in vitro. Exp Neurol (2004) 0.91
Clinical efficacy and cytokine network-modulating effects of tacrolimus in myasthenia gravis. J Neuroimmunol (2008) 0.90
Nordihydroguaiaretic acid potently breaks down pre-formed Alzheimer's beta-amyloid fibrils in vitro. J Neurochem (2002) 0.90
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. PLoS One (2013) 0.90
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy. Am J Med Genet A (2011) 0.90
Comparison of 18F-FDG PET and optimized voxel-based morphometry for detection of Alzheimer's disease: aging effect on diagnostic performance. J Nucl Med (2007) 0.90
Medical procedures and risk for sporadic Creutzfeldt-Jakob disease, Japan, 1999-2008. Emerg Infect Dis (2009) 0.90
The risk of iatrogenic Creutzfeldt-Jakob disease through medical and surgical procedures. Neuropathology (2009) 0.90
Ankyrin-G regulates inactivation gating of the neuronal sodium channel, Nav1.6. J Neurophysiol (2006) 0.89
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. Hum Mutat (2002) 0.89
Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome. Am J Med Genet A (2010) 0.89
Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus. J Neurol Sci (2008) 0.88
Ligand-bound thyroid hormone receptor contributes to reprogramming of pancreatic acinar cells into insulin-producing cells. J Biol Chem (2013) 0.88
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology (2014) 0.88
Effect of melatonin on α-synuclein self-assembly and cytotoxicity. Neurobiol Aging (2011) 0.88
Peripheral neuropathy associated with chronic natural killer cell lymphocytosis. J Neurol Sci (2005) 0.88
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. J Hum Genet (2004) 0.87
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene. Intern Med (2012) 0.87
Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther (2008) 0.87
Familial Parkinson disease mutations influence α-synuclein assembly. Neurobiol Dis (2011) 0.87
A linear lesion along the brachial plexus on FDG-PET in neurolymphomatosis. Intern Med (2008) 0.86
Vitamin A has anti-oligomerization effects on amyloid-β in vitro. J Alzheimers Dis (2011) 0.86
Duration of prion disease is longer in Japan than in other countries. J Epidemiol (2011) 0.86