Published in Neurogenetics on September 29, 2004
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan. Neurogenetics (2010) 0.96
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis (2013) 0.80
Spinocerebellar ataxia type 4. Investigation of 34 candidate genes. J Neurol (2005) 0.77
Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet (1984) 28.51
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat (2000) 13.25
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet (1993) 7.97
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet (1994) 7.07
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
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet (1994) 3.89
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet (1996) 3.26
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet (1996) 3.07
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet (1997) 2.77
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet (2000) 2.60
Clinical features and classification of inherited ataxias. Adv Neurol (1993) 2.56
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet (2001) 2.30
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet (2002) 2.02
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet (1999) 1.74
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain (2003) 1.58
Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet (1994) 1.46
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet (2003) 1.36
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet (1996) 1.25
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain (2004) 1.25
A new autosomal dominant pure cerebellar ataxia. Neurology (2001) 1.06
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet (2000) 1.01
Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. J Hum Genet (2003) 0.93
A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology (2001) 0.91
Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol Dis (2003) 0.91
Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. J Neurol (2003) 0.91
A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology (2000) 0.90
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol (2004) 0.89
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann Neurol (2002) 0.88
Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet (2002) 0.85
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Am J Med Genet (2002) 0.82
A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus. Ann N Y Acad Sci (2002) 0.78
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet (1999) 0.77
Spread of HTLV-I between lymphocytes by virus-induced polarization of the cytoskeleton. Science (2003) 5.19
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
Decreased alpha-synuclein in cerebrospinal fluid of aged individuals and subjects with Parkinson's disease. Biochem Biophys Res Commun (2006) 2.27
Adipose mitochondrial biogenesis is suppressed in db/db and high-fat diet-fed mice and improved by rosiglitazone. Diabetes (2007) 2.23
Anaphylactic shock decreases cerebral blood flow more than what would be expected from severe arterial hypotension. Shock (2012) 2.08
Reference values for voluntary and stimulated single-fibre EMG using concentric needle electrodes: a multicentre prospective study. Clin Neurophysiol (2011) 2.08
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med (2009) 1.96
High-molecular-weight beta-amyloid oligomers are elevated in cerebrospinal fluid of Alzheimer patients. FASEB J (2010) 1.91
Total tau protein in cerebrospinal fluid and diffusion-weighted MRI as an early diagnostic marker for Creutzfeldt-Jakob disease. Dement Geriatr Cogn Disord (2007) 1.72
Cellular immune response to HTLV-1. Oncogene (2005) 1.67
Retracted Effects of omega-3 polyunsaturated fatty acids on inflammatory markers in COPD. Chest (2005) 1.63
Awaji ALS criteria increase the diagnostic sensitivity in patients with bulbar onset. Clin Neurophysiol (2011) 1.61
In vivo expression of the HBZ gene of HTLV-1 correlates with proviral load, inflammatory markers and disease severity in HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). Retrovirology (2009) 1.58
Spreading of amyotrophic lateral sclerosis lesions--multifocal hits and local propagation? J Neurol Neurosurg Psychiatry (2013) 1.57
A clinical study of adult human parvovirus B19 infection. Intern Med (2002) 1.50
Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors. J Neurosci (2013) 1.48
Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan. Brain Dev (2003) 1.48
Cerebrospinal fluid proteomic patterns discriminate Parkinson's disease and multiple system atrophy. Mov Disord (2012) 1.46
Hyponatremia upon resumption of paroxetine therapy. Intern Med (2005) 1.46
High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types. Arch Neurol (2009) 1.45
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? EMBO J (2007) 1.44
Prominent fatigue in spinal muscular atrophy and spinal and bulbar muscular atrophy: evidence of activity-dependent conduction block. Clin Neurophysiol (2013) 1.41
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol (2002) 1.39
Peripheral neuropathy in Japanese patients with hepatitis C virus infection. Intern Med (2003) 1.38
Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis. Acta Neuropathol (2008) 1.30
Early detection of abnormal prion protein in genetic human prion diseases now possible using real-time QUIC assay. PLoS One (2013) 1.30
Local tissue anisotropy decreases in cerebellopetal fibers and pyramidal tract in multiple system atrophy. J Neurol (2005) 1.30
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. J Neurol (2011) 1.29
Microbleeds in Alzheimer disease are more related to cerebral amyloid angiopathy than cerebrovascular disease. Dement Geriatr Cogn Disord (2006) 1.26
Cerebral white matter damage in frontotemporal dementia assessed by diffusion tensor tractography. Neuroradiology (2008) 1.22
Treatment for POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes) syndrome. Cochrane Database Syst Rev (2012) 1.17
Zidovudine plus lamivudine in Human T-Lymphotropic Virus type-I-associated myelopathy: a randomised trial. Retrovirology (2006) 1.17
Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of Ullrich disease fibroblasts. Mol Ther (2006) 1.17
Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics. Acta Neuropathol (2005) 1.16
Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease. Ann Neurol (2004) 1.14
Usefulness of proviral load measurement for monitoring of disease activity in individual patients with human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis. J Neurovirol (2003) 1.12
[A case of intrascrotal schwannoma]. Hinyokika Kiyo (2002) 1.11
Whole-body fluorodeoxyglucose positron emission tomography/computed tomography in patients with active polymyalgia rheumatica: evidence for distinctive bursitis and large-vessel vasculitis. Mod Rheumatol (2011) 1.10
CSF alpha-synuclein levels in dementia with Lewy bodies and Alzheimer's disease. Brain Res (2008) 1.10
Reply to "Reference values in concentric needle electrode studies". Clin Neurophysiol (2012) 1.10
Human T-cell lymphotropic virus type I and neurological diseases. J Neurovirol (2003) 1.09
Retracted Stromal-derived factor-1alpha/CXCL12-CXCR 4 axis is involved in the dissemination of NSCLC cells into pleural space. Am J Respir Cell Mol Biol (2003) 1.08
Polygenic control of human T lymphotropic virus type I (HTLV-I) provirus load and the risk of HTLV-I-associated myelopathy/tropical spastic paraparesis. J Infect Dis (2002) 1.08
Effects of Yokukansan on behavioral and psychological symptoms of dementia in regular treatment for Alzheimer's disease. Prog Neuropsychopharmacol Biol Psychiatry (2010) 1.08
Cerebrovascular disorders and genetic polymorphisms: mitochondrial DNA5178C is predominant in cerebrovascular disorders. J Neurol Sci (2002) 1.06
Clinicopathological features of neuropathy associated with lymphoma. Brain (2013) 1.06
Treatment and outcome of myasthenia gravis: retrospective multi-center analysis of 470 Japanese patients, 1999-2000. J Neurol Sci (2004) 1.05
Cell permeable ROS scavengers, Tiron and Tempol, rescue PC12 cell death caused by pyrogallol or hypoxia/reoxygenation. Neurosci Res (2003) 1.05
Isaacs' syndrome as a potassium channelopathy of the nerve. Muscle Nerve Suppl (2002) 1.04
Expression profiling of peroxisome proliferator-activated receptor-delta (PPAR-delta) in mouse tissues using tissue microarray. Histochem Cell Biol (2007) 1.04
Association of AKT1 haplotype with the risk of schizophrenia in Iranian population. Am J Med Genet B Neuropsychiatr Genet (2006) 1.03
KIR2DL2 enhances protective and detrimental HLA class I-mediated immunity in chronic viral infection. PLoS Pathog (2011) 1.02
Stroke-independent association between metabolic syndrome and functional dependence, depression, and low quality of life in elderly community-dwelling Brazilian people. J Am Geriatr Soc (2007) 1.02
Impaired function of human T-lymphotropic virus type 1 (HTLV-1)-specific CD8+ T cells in HTLV-1-associated neurologic disease. Blood (2008) 1.02
Orally active 4-amino-5-diarylurea-furo[2,3-d]pyrimidine derivatives as anti-angiogenic agent inhibiting VEGFR2 and Tie-2. Bioorg Med Chem Lett (2006) 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
Somatotopic organization of thalamocortical projection fibers as assessed with MR tractography. Radiology (2007) 1.01
A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy. Acta Neuropathol (2011) 1.01
[Familial prion disease (GSS, familial CJD, FFI)]. Nihon Rinsho (2007) 1.00
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. Neurology (2013) 0.99
A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. Neurosci Lett (2003) 0.99
p62/SQSTM1-dependent autophagy of Lewy body-like α-synuclein inclusions. PLoS One (2012) 0.99
Assessment of arcuate fasciculus with diffusion-tensor tractography may predict the prognosis of aphasia in patients with left middle cerebral artery infarcts. Neuroradiology (2009) 0.99
Stroke patients' evolving symptoms assessed by tractography. J Magn Reson Imaging (2004) 0.99
Inverse correlation of microvessel density with metastasis and prognosis in renal cell carcinoma. Int J Urol (2004) 0.98
B cell-derived vascular endothelial growth factor A promotes lymphangiogenesis and high endothelial venule expansion in lymph nodes. J Immunol (2010) 0.97
Decreased human T lymphotropic virus type I (HTLV-I) provirus load and alteration in T cell phenotype after interferon-alpha therapy for HTLV-I-associated myelopathy/tropical spastic paraparesis. J Infect Dis (2003) 0.97
Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma. J Neurol Sci (2006) 0.97
Extracellular neurosin degrades α-synuclein in cultured cells. Neurosci Res (2010) 0.96
Genetic stability of human T lymphotropic virus type I despite antiviral pressures by CTLs. J Immunol (2007) 0.95
HTLV-1 modulates the frequency and phenotype of FoxP3+CD4+ T cells in virus-infected individuals. Retrovirology (2012) 0.95
Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue. Intern Med (2008) 0.95
Serum VEGF--as a prognostic factor of atherosclerosis. Atherosclerosis (2006) 0.95
Clinical features of asthmatic patients with increased urinary leukotriene E4 excretion (hyperleukotrienuria): Involvement of chronic hyperplastic rhinosinusitis with nasal polyposis. J Allergy Clin Immunol (2004) 0.94
Retracted Suppression of discoidin domain receptor 1 by RNA interference attenuates lung inflammation. J Immunol (2006) 0.94
Retracted Discoidin domain receptor 1 contributes to the survival of lung fibroblast in idiopathic pulmonary fibrosis. Am J Pathol (2006) 0.94