Published in J Hum Genet on March 12, 2010
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet (2010) 5.75
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J (2010) 3.58
The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med (2012) 1.66
FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis. PLoS Genet (2011) 1.46
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules. Hum Mol Genet (2013) 1.20
Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation. Acta Neuropathol (2011) 1.19
TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets. Neurotherapeutics (2015) 1.15
The complex molecular biology of amyotrophic lateral sclerosis (ALS). Prog Mol Biol Transl Sci (2012) 1.05
The role of FUS gene variants in neurodegenerative diseases. Nat Rev Neurol (2014) 1.04
Clinical neurogenetics: amyotrophic lateral sclerosis. Neurol Clin (2013) 0.96
Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis. J Biol Chem (2013) 0.92
FUS-NLS/Transportin 1 complex structure provides insights into the nuclear targeting mechanism of FUS and the implications in ALS. PLoS One (2012) 0.90
Amyotrophic lateral sclerosis: an update on recent genetic insights. J Neurol (2013) 0.89
Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation. J Neurol (2012) 0.82
Pu-erh tea extract induces the degradation of FET family proteins involved in the pathogenesis of amyotrophic lateral sclerosis. Biomed Res Int (2014) 0.82
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis. Transl Neurodegener (2015) 0.81
Combined FDG and raclopride PET study in a case of ALS with the R521C FUS gene mutation. J Neurol (2011) 0.76
Distinction between MOG antibody-positive and AQP4 antibody-positive NMO spectrum disorders. Neurology (2014) 6.73
Anti-aquaporin-4 antibody is involved in the pathogenesis of NMO: a study on antibody titre. Brain (2007) 4.82
Mutations of optineurin in amyotrophic lateral sclerosis. Nature (2010) 4.54
Neuromyelitis optica: pathogenicity of patient immunoglobulin in vivo. Ann Neurol (2009) 3.91
Aquaporin-4 antibody-positive cases beyond current diagnostic criteria for NMO spectrum disorders. Neurology (2013) 2.52
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol (2010) 2.33
Presence of six different lesion types suggests diverse mechanisms of tissue injury in neuromyelitis optica. Acta Neuropathol (2013) 1.79
Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients. Am J Hum Genet (2007) 1.76
Silent cerebral microbleeds on T2*-weighted MRI: correlation with stroke subtype, stroke recurrence, and leukoaraiosis. Stroke (2002) 1.74
NO production results in suspension-induced muscle atrophy through dislocation of neuronal NOS. J Clin Invest (2007) 1.70
Spatiotemporal recapitulation of central nervous system development by murine embryonic stem cell-derived neural stem/progenitor cells. Stem Cells (2008) 1.67
Near-infrared spectroscopic topography as a tool to monitor motor reorganization after hemiparetic stroke: a comparison with functional MRI. Stroke (2002) 1.63
Suppression of dynamin GTPase decreases α-synuclein uptake by neuronal and oligodendroglial cells: a potent therapeutic target for synucleinopathy. Mol Neurodegener (2012) 1.63
Activity in the lateral prefrontal cortex reflects multiple steps of future events in action plans. Neuron (2006) 1.61
The pathology of an autoimmune astrocytopathy: lessons learned from neuromyelitis optica. Brain Pathol (2014) 1.60
Epileptic, organic and genetic vulnerabilities for timing of the development of interictal psychosis. Br J Psychiatry (2010) 1.54
Intracellular Abeta42 activates p53 promoter: a pathway to neurodegeneration in Alzheimer's disease. FASEB J (2004) 1.51
HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics (2008) 1.49
Intellectual prognosis of status epilepticus in adult epilepsy patients: analysis with Wechsler Adult Intelligence Scale-revised. Epilepsia (2005) 1.47
Long-term results of hybrid endovascular repair for thoraco-abdominal aortic aneurysms. Eur J Cardiothorac Surg (2010) 1.46
Establishment of a new sensitive assay for anti-human aquaporin-4 antibody in neuromyelitis optica. Tohoku J Exp Med (2006) 1.46
Familial inclusion body myositis: a report on two Japanese sisters. Intern Med (2003) 1.45
Pure optic-spinal form of multiple sclerosis in Japan. Brain (2002) 1.41
Core lower urinary tract symptom score questionnaire: a psychometric analysis. Int J Urol (2014) 1.40
MRI findings from a case of fulminating adult-onset measles encephalitis. Intern Med (2006) 1.40
Retroperitoneoscopic drainage of bilateral psoas abscesses under intraoperative laparoscopic ultrasound guidance. Asian J Endosc Surg (2014) 1.39
Systemic increase of oxidative nucleic acid damage in Parkinson's disease and multiple system atrophy. Neurobiol Dis (2002) 1.34
NEDL1, a novel ubiquitin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1. J Biol Chem (2003) 1.30
Mutant SOD1 linked to familial amyotrophic lateral sclerosis, but not wild-type SOD1, induces ER stress in COS7 cells and transgenic mice. Biochem Biophys Res Commun (2003) 1.28
Disease progression of human SOD1 (G93A) transgenic ALS model rats. J Neurosci Res (2006) 1.24
Severe olfactory dysfunction is a prodromal symptom of dementia associated with Parkinson's disease: a 3 year longitudinal study. Brain (2012) 1.21
Representation of immediate and final behavioral goals in the monkey prefrontal cortex during an instructed delay period. Cereb Cortex (2005) 1.21
Plasma membrane ion permeability induced by mutant alpha-synuclein contributes to the degeneration of neural cells. J Neurochem (2006) 1.17
Neuro-Sweet disease: clinical manifestations and criteria for diagnosis. Neurology (2005) 1.17
Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol (2009) 1.16
HLA-B*1511 is a risk factor for carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. Epilepsia (2010) 1.16
DNA single-strand break repair is impaired in aprataxin-related ataxia. Ann Neurol (2007) 1.14
Long-term results of the open stent-grafting technique for extended aortic arch disease. J Thorac Cardiovasc Surg (2008) 1.14
Human astrocytes express aquaporin-1 and aquaporin-4 in vitro and in vivo. Neuropathology (2007) 1.14
Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. Am J Surg Pathol (2012) 1.13
Development of extensive brain lesions following interferon beta therapy in relapsing neuromyelitis optica and longitudinally extensive myelitis. J Neurol (2007) 1.12
Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking. PLoS One (2010) 1.12
Ultrastructural study of mitochondria in the spinal cord of transgenic mice with a G93A mutant SOD1 gene. Acta Neuropathol (2004) 1.11
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet (2013) 1.08
Gender difference in association between polymorphism of serotonin transporter gene regulatory region and anxiety. J Psychosom Res (2006) 1.07
Serine 129 phosphorylation of alpha-synuclein induces unfolded protein response-mediated cell death. J Biol Chem (2008) 1.07
Altered expression of chemokine receptor CXCR5 on T cells of myasthenia gravis patients. J Neuroimmunol (2005) 1.07
Psychoses and epilepsy: are interictal and postictal psychoses distinct clinical entities? Epilepsia (2002) 1.06
Anti-N-methyl-D-aspartate receptor encephalitis with multiphasic demyelination. Ann Neurol (2014) 1.06
The AAA-ATPase VPS4 regulates extracellular secretion and lysosomal targeting of α-synuclein. PLoS One (2011) 1.06
A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor. Biochem Biophys Res Commun (2008) 1.05
Narcolepsy as an initial manifestation of neuromyelitis optica with anti-aquaporin-4 antibody. J Neurol (2009) 1.05
[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy]. Rinsho Shinkeigaku (2004) 1.05
Eugène Devic (1858-1930). J Neurol (2002) 1.05
Two subtypes of optic-spinal form of multiple sclerosis in Japan: clinical and laboratory features. J Neurol (2007) 1.04
Transient increases in anti-aquaporin-4 antibody titers following rituximab treatment in neuromyelitis optica, in association with elevated serum BAFF levels. J Clin Neurosci (2011) 1.02
Myelitis with atopic diathesis: a nationwide survey of 79 cases in Japan. J Neurol Sci (2003) 1.01
Ibudilast, a nonselective phosphodiesterase inhibitor, regulates Th1/Th2 balance and NKT cell subset in multiple sclerosis. Mult Scler (2004) 1.00
Cell cycle protein expression in proliferating microglia and astrocytes following transient global cerebral ischemia in the rat. Brain Res Bull (2003) 1.00
Distinct patterns of regional cerebral glucose metabolism in Parkinson's disease with and without mild cognitive impairment. Mov Disord (2009) 1.00
HyperCKemia related to the initial and recurrent attacks of neuromyelitis optica. Intern Med (2012) 1.00
Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle. Acta Neuropathol (2007) 0.99
CSF chemokine levels in relapsing neuromyelitis optica and multiple sclerosis. J Neuroimmunol (2004) 0.99
Fingolimod (FTY720) therapy in Japanese patients with relapsing multiple sclerosis over 12 months: results of a phase 2 observational extension. BMC Neurol (2014) 0.98
The psychological aspects of patients with delayed sleep phase syndrome (DSPS). Sleep Med (2003) 0.98
Loss of aquaporin-4 in active perivascular lesions in neuromyelitis optica: a case report. Tohoku J Exp Med (2006) 0.98
Sleep and circadian rhythm disturbances in patients with delayed sleep phase syndrome. Sleep (2003) 0.98
Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2. J Biol Chem (2008) 0.97
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report. Mov Disord (2004) 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
Outcome after concomitant unilateral embolization of the internal iliac artery and contralateral external-to-internal iliac artery bypass grafting during endovascular aneurysm repair. J Vasc Surg (2011) 0.96
Subacute postictal aggression in patients with epilepsy. Epilepsy Behav (2007) 0.96
Pathogenic mutation of ALK2 inhibits induced pluripotent stem cell reprogramming and maintenance: mechanisms of reprogramming and strategy for drug identification. Stem Cells (2012) 0.96
Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports. J Med Case Rep (2013) 0.96
Successful bridge to resynchronization therapy with a left ventricular assist system in a patient with idiopathic dilated cardiomyopathy. J Artif Organs (2005) 0.96
Impairment of axonal transport in the axon hillock and the initial segment of anterior horn neurons in transgenic mice with a G93A mutant SOD1 gene. Acta Neuropathol (2005) 0.96
[Neuromyelitis optica and anti-aquaporin 4 antibody--an overview]. Brain Nerve (2008) 0.96
Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation. J Neurochem (2003) 0.96
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. J Neurol Sci (2012) 0.95
Alteration of familial ALS-linked mutant SOD1 solubility with disease progression: its modulation by the proteasome and Hsp70. Biochem Biophys Res Commun (2006) 0.95