Published in Ann Neurol on February 01, 2004
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Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). Neuroimage (2012) 1.01
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Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med Genet (2005) 0.96
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A universal mechanism ties genotype to phenotype in trinucleotide diseases. PLoS Comput Biol (2007) 0.85
HAP1 can sequester a subset of TBP in cytoplasmic inclusions via specific interaction with the conserved TBP(CORE). BMC Mol Biol (2007) 0.81
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Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis. Rare Dis (2016) 0.78
Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia. Ann Neurol (2004) 0.77
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. J Hum Genet (2006) 0.77
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18
A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol (2002) 3.00
TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol (2008) 2.92
Negative regulation of the RIG-I signaling by the ubiquitin ligase RNF125. Proc Natl Acad Sci U S A (2007) 2.88
miRNA-mediated deadenylation is orchestrated by GW182 through two conserved motifs that interact with CCR4-NOT. Nat Struct Mol Biol (2011) 2.61
Bickerstaff's brainstem encephalitis: clinical features of 62 cases and a subgroup associated with Guillain-Barré syndrome. Brain (2003) 2.58
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
Three different neutrophil subsets exhibited in mice with different susceptibilities to infection by methicillin-resistant Staphylococcus aureus. Immunity (2004) 2.29
Carbohydrate mimicry between human ganglioside GM1 and Campylobacter jejuni lipooligosaccharide causes Guillain-Barre syndrome. Proc Natl Acad Sci U S A (2004) 2.16
Axonal alpha-synuclein aggregates herald centripetal degeneration of cardiac sympathetic nerve in Parkinson's disease. Brain (2007) 2.10
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. Nat Genet (2008) 2.09
TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. Acta Neuropathol (2007) 2.01
Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol (2009) 2.00
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Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med (2009) 1.96
Appropriate data cleaning methods for genome-wide association study. J Hum Genet (2008) 1.92
Induced loss of ADAR2 engenders slow death of motor neurons from Q/R site-unedited GluR2. J Neurosci (2010) 1.91
CAG repeat disorder models and human neuropathology: similarities and differences. Acta Neuropathol (2007) 1.86
Loss of poly(ADP-ribose) glycohydrolase causes progressive neurodegeneration in Drosophila melanogaster. Proc Natl Acad Sci U S A (2003) 1.85
Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology (2014) 1.82
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology (2013) 1.81
Hepatitis C virus non-structural proteins in the probable membranous compartment function in viral genome replication. J Biol Chem (2003) 1.77
Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol (2012) 1.76
Phosphorylated alpha-synuclein is ubiquitinated in alpha-synucleinopathy lesions. J Biol Chem (2002) 1.71
Soluble polyglutamine oligomers formed prior to inclusion body formation are cytotoxic. Hum Mol Genet (2007) 1.66
Differential levels of alpha-synuclein, beta-amyloid42 and tau in CSF between patients with dementia with Lewy bodies and Alzheimer's disease. J Neurol Neurosurg Psychiatry (2010) 1.65
Risk factors for adjacent segment degeneration after PLIF. Spine (Phila Pa 1976) (2004) 1.65
An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. Ann Neurol (2005) 1.64
Primitive neural stem cells from the mammalian epiblast differentiate to definitive neural stem cells under the control of Notch signaling. Genes Dev (2004) 1.63
eIF4E/4E-BP ratio predicts the efficacy of mTOR targeted therapies. Cancer Res (2012) 1.62
Aprataxin, a novel protein that protects against genotoxic stress. Hum Mol Genet (2004) 1.60
Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology. Acta Neuropathol (2011) 1.58
Baculovirus induces an innate immune response and confers protection from lethal influenza virus infection in mice. J Immunol (2003) 1.57
Molecular clearance of ataxin-3 is regulated by a mammalian E4. EMBO J (2004) 1.57
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest (2011) 1.57
A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants. Ann Neurol (2012) 1.55
Isolation and characterization of patient-derived, toxic, high mass amyloid beta-protein (Abeta) assembly from Alzheimer disease brains. J Biol Chem (2009) 1.52
Deletion of the gene encoding G0/G 1 switch protein 2 (G0s2) alleviates high-fat-diet-induced weight gain and insulin resistance, and promotes browning of white adipose tissue in mice. Diabetologia (2014) 1.49
Degeneration of cardiac sympathetic nerve can occur in multiple system atrophy. Acta Neuropathol (2006) 1.47
Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eye. PLoS One (2013) 1.45
Fasciculation potentials in amyotrophic lateral sclerosis and the diagnostic yield of the Awaji algorithm. Muscle Nerve (2012) 1.45
Degeneration of cardiac sympathetic nerve begins in the early disease process of Parkinson's disease. Brain Pathol (2007) 1.44
Global democratic consensus on neuropathological disease criteria. Lancet Neurol (2002) 1.44
Distinct perturbation of the translatome by the antidiabetic drug metformin. Proc Natl Acad Sci U S A (2012) 1.43
Anti-NMDA receptor encephalitis associated with transient cerebral dyschromatopsia, prosopagnosia, and lack of stereopsis. J Neuroophthalmol (2014) 1.42
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. Nat Cell Biol (2009) 1.41
Maturation process of TDP-43-positive neuronal cytoplasmic inclusions in amyotrophic lateral sclerosis with and without dementia. Acta Neuropathol (2008) 1.41
A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation. Intern Med (2010) 1.40
Dropped head syndrome in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2012) 1.40
Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions. Acta Neuropathol (2008) 1.39
Botulinum toxin A injections improve apraxia of eyelid opening without overt blepharospasm associated with neurodegenerative diseases. Mov Disord (2007) 1.38
Neuropathology with clinical correlations of sporadic amyotrophic lateral sclerosis: 102 autopsy cases examined between 1962 and 2000. Brain Pathol (2003) 1.36
The Lewy body in Parkinson's disease: molecules implicated in the formation and degradation of alpha-synuclein aggregates. Neuropathology (2007) 1.36
Influence of the serotonin transporter gene-linked polymorphic region on the antidepressant response to fluvoxamine in Japanese depressed patients. Prog Neuropsychopharmacol Biol Psychiatry (2002) 1.36
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet (2010) 1.35
CpG demethylation enhances alpha-synuclein expression and affects the pathogenesis of Parkinson's disease. PLoS One (2010) 1.34
Crystal structure of the human CNOT6L nuclease domain reveals strict poly(A) substrate specificity. EMBO J (2010) 1.33
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest (2012) 1.32
Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. Arch Neurol (2008) 1.32
Multiplex families with multiple system atrophy. Arch Neurol (2007) 1.32
Serum metabolomics reveals γ-glutamyl dipeptides as biomarkers for discrimination among different forms of liver disease. J Hepatol (2011) 1.30
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol (2012) 1.29
Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease. Hum Mol Genet (2006) 1.27
Intranuclear degradation of polyglutamine aggregates by the ubiquitin-proteasome system. J Biol Chem (2009) 1.26
Abeta42 overproduction associated with structural changes in the catalytic pore of gamma-secretase: common effects of Pen-2 N-terminal elongation and fenofibrate. J Biol Chem (2007) 1.26
Polyglutamine diseases: where does toxicity come from? what is toxicity? where are we going? J Mol Cell Biol (2010) 1.25
Cellular pathology in multiple system atrophy. Neuropathology (2006) 1.25
Selective reduction of a PDZ protein, SAP-97, in the prefrontal cortex of patients with chronic schizophrenia. J Neurochem (2002) 1.24
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PLoS One (2013) 1.23
Sporadic ataxias in Japan--a population-based epidemiological study. Cerebellum (2008) 1.22
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J Med Genet (2012) 1.22
Cerebellar involvement in progressive supranuclear palsy: A clinicopathological study. Mov Disord (2009) 1.22
Dominant mutations in RP1L1 are responsible for occult macular dystrophy. Am J Hum Genet (2010) 1.21
Clinicopathological study of diffuse type brainstem gliomas: analysis of 40 autopsy cases. Neurol Med Chir (Tokyo) (2003) 1.21
Cardiac sympathetic denervation precedes neuronal loss in the sympathetic ganglia in Lewy body disease. Acta Neuropathol (2005) 1.21
Characterization of causative allergens for wheat-dependent exercise-induced anaphylaxis sensitized with hydrolyzed wheat proteins in facial soap. Allergol Int (2013) 1.20
FadA from Fusobacterium nucleatum utilizes both secreted and nonsecreted forms for functional oligomerization for attachment and invasion of host cells. J Biol Chem (2007) 1.19
Subgenomic replicon derived from a cell line infected with the hepatitis C virus. Biochem Biophys Res Commun (2002) 1.19
Demonstration of alpha-synuclein immunoreactivity in neuronal and glial cytoplasm in normal human brain tissue using proteinase K and formic acid pretreatment. Exp Neurol (2002) 1.19
TDP-43-immunoreactive neuronal and glial inclusions in the neostriatum in amyotrophic lateral sclerosis with and without dementia. Acta Neuropathol (2007) 1.18
Mammalian E4 is required for cardiac development and maintenance of the nervous system. Mol Cell Biol (2005) 1.17
Genetic association of CTNNA3 with late-onset Alzheimer's disease in females. Hum Mol Genet (2007) 1.15
Prediction of antidepressant response to milnacipran by norepinephrine transporter gene polymorphisms. Am J Psychiatry (2004) 1.14
NUB1 suppresses the formation of Lewy body-like inclusions by proteasomal degradation of synphilin-1. Am J Pathol (2006) 1.14
Involvement of the peripheral nervous system in synucleinopathies, tauopathies and other neurodegenerative proteinopathies of the brain. Acta Neuropathol (2010) 1.14