Shoji Tsuji
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Molecular Biology
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Biology
Shoji Tsuji's Degrees
- PhD Molecular Biology University of Tokyo
- Bachelors Biochemistry University of Tokyo
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(Suggest an Edit or Addition)Shoji Tsuji's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Interference by Huntingtin and Atrophin-1 with CBP-Mediated Transcription Leading to Cellular Toxicity (2001) (1122)
- Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) (1994) (1094)
- Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study (2012) (1007)
- Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (2009) (965)
- Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT (1996) (768)
- Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene (1994) (744)
- A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1 (2002) (658)
- Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ (2001) (628)
- SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. (2001) (603)
- Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial (2017) (525)
- α-Synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy (1998) (523)
- Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription (2000) (413)
- Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27. (1997) (384)
- Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch (1998) (359)
- Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene (2001) (359)
- The gene for Machado–Joseph disease maps to human chromosome 14q (1993) (334)
- Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. (2001) (326)
- A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? (1999) (315)
- Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. (2009) (300)
- Mis-sense mutation Val→Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease (1991) (294)
- A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. (1987) (294)
- Synphilin‐1 is present in Lewy bodies in Parkinson's disease (2000) (277)
- CpG Demethylation Enhances Alpha-Synuclein Expression and Affects the Pathogenesis of Parkinson's Disease (2010) (277)
- An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family (2005) (264)
- Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. (2009) (249)
- Confirmatory double-blind, parallel-group, placebo-controlled study of efficacy and safety of edaravone (MCI-186) in amyotrophic lateral sclerosis patients (2014) (249)
- Human genetic variation database, a reference database of genetic variations in the Japanese population (2016) (248)
- Mutations in COQ2 in familial and sporadic multiple-system atrophy. (2013) (246)
- Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population. (2016) (244)
- Regional specificity of alterations in NGF, BDNF and NT‐3 levels in Alzheimer's disease (1996) (227)
- Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy. (1998) (227)
- Familial juvenile parkinsonism (1994) (219)
- Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. (1998) (204)
- Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease (2019) (204)
- Serum metabolomics reveals γ-glutamyl dipeptides as biomarkers for discrimination among different forms of liver disease. (2011) (201)
- Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy (1992) (193)
- Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy (2018) (193)
- Mutations for Gaucher disease confer high susceptibility to Parkinson disease. (2009) (187)
- Molecular cloning of human growth inhibitory factor cDNA and its down‐regulation in Alzheimer's disease. (1992) (187)
- IFNβ-1b may severely exacerbate Japanese optic-spinal MS in neuromyelitis optica spectrum (2010) (186)
- Nuclear Accumulation of Truncated Atrophin-1 Fragments in a Transgenic Mouse Model of DRPLA (1999) (180)
- An immunologic abnormality common to Bickerstaff's brain stem encephalitis and Fisher's syndrome (1993) (180)
- Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease (1995) (180)
- Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. (1988) (171)
- Molecular clearance of ataxin‐3 is regulated by a mammalian E4 (2004) (165)
- Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. (2002) (164)
- Dentatorubral‐pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat (1995) (164)
- SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians (2013) (161)
- CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia (2016) (160)
- Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. (1999) (160)
- Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial (2010) (159)
- Alpha-synuclein degradation by serine protease neurosin: implication for pathogenesis of synucleinopathies. (2003) (146)
- Profound downregulation of the RNA editing enzyme ADAR2 in ALS spinal motor neurons (2012) (144)
- Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. (2012) (141)
- Mutations in KCND3 cause spinocerebellar ataxia type 22 (2012) (139)
- A clinical and pathologic study of a large Japanese family with Machado‐ Joseph disease tightly linked to the DNA markers on chromosome 14q (1994) (138)
- CAG repeat disorder models and human neuropathology: similarities and differences (2007) (137)
- ApoE–ε4 and early–onset Alzheimer's (1994) (137)
- Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. (1997) (135)
- Spinocerebellar ataxia type 6: CAG repeat expansion in α1a voltage‐dependent calcium channel gene and clinical variations in japanese population (1997) (133)
- Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. (2014) (131)
- Induced Loss of ADAR2 Engenders Slow Death of Motor Neurons from Q/R Site-Unedited GluR2 (2010) (130)
- Sporadic ataxias in Japan – a population-based epidemiological study (2008) (130)
- Variant between CPT1B and CHKB associated with susceptibility to narcolepsy (2008) (127)
- Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. (2009) (127)
- Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families (2008) (124)
- Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. (2001) (123)
- Multiplex families with multiple system atrophy. (2007) (116)
- Evaluation of corticospinal tracts in ALS with diffusion tensor MRI and brainstem stimulation (2008) (116)
- A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2‐cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4‐qter (2000) (115)
- ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. (2013) (114)
- SCA17 homozygote showing Huntington's disease‐like phenotype (2004) (114)
- A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. (1990) (114)
- Initiation and inhibitory control of saccades with the progression of Parkinson's disease – Changes in three major drives converging on the superior colliculus (2011) (113)
- Altered CpG methylation in sporadic Alzheimer's disease is associated with APP and MAPT dysregulation. (2014) (113)
- Spinocerebellar Ataxia Type 14 Caused by a Mutation in Protein Kinase C γ (2003) (111)
- The beta APP717 Alzheimer mutation increases the percentage of plasma amyloid-beta protein ending at A beta 42(43) (1997) (107)
- Clinical features of ovarian cancer in Japanese women with germ-line mutations of BRCA1. (1998) (105)
- Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. (1985) (105)
- The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. (2012) (105)
- Dominant mutations in RP1L1 are responsible for occult macular dystrophy. (2010) (102)
- Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. (1986) (102)
- Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. (1996) (101)
- Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis (2009) (101)
- Analysis of the expression level of α-synuclein mRNA using postmortem brain samples from pathologically confirmed cases of multiple system atrophy (2001) (99)
- C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. (2012) (99)
- Widespread occurrence of intranuclear atrophin‐1 accumulation in the central nervous system neurons of patients with dentatorubral‐pallidoluysian atrophy (2001) (98)
- Trinucleotide repeat length and rate of progression of Huntington's disease (1994) (98)
- Variants associated with Gaucher disease in multiple system atrophy (2015) (97)
- Trial to establish an animal model of paraneoplastic cerebellar degeneration with anti-Yo antibody 1. Mouse strains bearing different MHC molecules produce antibodies on immunization with recombinant Yo protein, but do not cause Purkinje cell loss (1995) (97)
- Huntington's disease–like 2 (HDL2) in North America and Japan (2004) (97)
- Novel mutations, pseudo‐dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism (2000) (96)
- A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. (1992) (93)
- Intranuclear Degradation of Polyglutamine Aggregates by the Ubiquitin-Proteasome System* (2009) (92)
- A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. (1996) (91)
- Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val→Ile mutation in the amyloid precursor protein gene (1993) (91)
- Quantitative evaluation of the pyramidal tract segmented by diffusion tensor tractography: feasibility study in patients with amyotrophic lateral sclerosis. (2005) (91)
- A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations (2010) (91)
- Molecular cloning of rat growth inhibitory factor cDNA and the expression in the central nervous system. (1993) (91)
- Genotype–phenotype correlations in alternating hemiplegia of childhood (2014) (90)
- Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. (1996) (89)
- Rapid diagnosis Of tuberculous meningitis by polymerase chain reaction (PCR) (1990) (89)
- Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. (2010) (88)
- Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy (1997) (88)
- Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain (1998) (87)
- Pathology of CAG repeat diseases (2000) (87)
- Machado–Joseph disease gene products carrying different carboxyl termini (1997) (87)
- Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. (2001) (86)
- Inflammatory myopathies associated with anti-mitochondrial antibodies. (2012) (86)
- Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations (2002) (86)
- Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9 (1997) (85)
- Immunocytochemical localization of synphilin-1, an α-synuclein-associated protein, in neurodegenerative disorders (2002) (85)
- Aβ1–40 but not Aβ1–42 levels in cortex correlate with apolipoprotein E ϵ4 allele dosage in sporadic Alzheimer's disease (1997) (84)
- Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. (1995) (82)
- Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. (2003) (81)
- Genetics of neurodegenerative diseases: insights from high-throughput resequencing (2010) (81)
- Trial to establish an animal model of paraneoplastic cerebellar degeneration with anti-Yo antibody 2. Passive transfer of murine mononuclear cells activated with recombinant Yo protein to paraneoplastic cerebellar degeneration lymphocytes in severe combined immunodeficiency mice (1995) (81)
- Itraconazole-Induced Cholestasis: Involvement of the Inhibition of Bile Canalicular Phospholipid Translocator MDR3/ABCB4 (2011) (80)
- Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein (2004) (80)
- Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. (2011) (80)
- A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55) (2012) (79)
- Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients (2013) (79)
- Involvement of the cerebral cortex and autonomic ganglia in Machado-Joseph disease (2001) (78)
- Changes of growth inhibitory factor after stab wounds in rat brain (1995) (77)
- Apolipoprotein E allele–dependent antioxidant activity in brains with Alzheimer’s disease (2000) (77)
- Anti-TIF1-&ggr; antibody and cancer-associated myositis: A clinicohistopathologic study (2016) (76)
- BIN1 regulates BACE1 intracellular trafficking and amyloid-β production. (2016) (76)
- Passive transfer and active immunization with the recombinant leucine-zipper (Yo) protein as an attempt to establish an animal model of paraneoplastic cerebellar degeneration (1994) (75)
- Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (2019) (73)
- 14-3-3 protein eta chain gene (YWHAH) polymorphism and its genetic association with schizophrenia. (1999) (72)
- Interaction between neuronal intranuclear inclusions and promyelocytic leukemia protein nuclear and coiled bodies in CAG repeat diseases. (2001) (72)
- Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 (2013) (72)
- Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 (2016) (72)
- Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis. (1996) (71)
- Genetic association study on in and around the APOE in late-onset Alzheimer disease (2009) (71)
- Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability. (1997) (69)
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force (2019) (68)
- Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan (2014) (67)
- RNA binding mediates neurotoxicity in the transgenic Drosophila model of TDP-43 proteinopathy. (2013) (67)
- Parietal Dysgraphia: Characterization of Abnormal Writing Stroke Sequences, Character Formation and Character Recall (2007) (66)
- Cancer association as a risk factor for anti-HMGCR antibody-positive myopathy (2016) (66)
- Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. (1996) (66)
- Underediting of GluR2 mRNA, a neuronal death inducing molecular change in sporadic ALS, does not occur in motor neurons in ALS1 or SBMA (2006) (66)
- Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′-phosphoglycolate ends (2007) (66)
- A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis‐linked SOD1 mutants (2012) (66)
- Fasciculation potentials in amyotrophic lateral sclerosis and the diagnostic yield of the Awaji algorithm (2012) (66)
- Oligomerization of expanded-polyglutamine domain fluorescent fusion proteins in cultured mammalian cells. (1997) (65)
- The FHA domain of aprataxin interacts with the C-terminal region of XRCC1. (2004) (65)
- Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients. (1991) (64)
- A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2 (2014) (64)
- Increased synthesis of hexacosanoic acid (C23:0) by cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN). (1981) (64)
- Slowly Progressive Pure Word Deafness (1998) (64)
- Rescue of amyotrophic lateral sclerosis phenotype in a mouse model by intravenous AAV9-ADAR2 delivery to motor neurons (2013) (63)
- Quantitative evaluation of brainstem involvement in multiple system atrophy by diffusion-weighted MR imaging (2004) (63)
- Neuron-specific methylome analysis reveals epigenetic regulation and tau-related dysfunction of BRCA1 in Alzheimer’s disease (2017) (62)
- Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado‐Joseph disease (1998) (61)
- A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34. (2015) (61)
- Aβ42 Overproduction Associated with Structural Changes in the Catalytic Pore of γ-Secretase (2007) (61)
- Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family (1998) (61)
- A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype–phenotype correlations (2009) (61)
- Spinocerebellar ataxia type 15 (2008) (60)
- Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients (1997) (60)
- Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. (2007) (60)
- Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? (1995) (59)
- No mutation in the entire coding region of the α-synuclein gene in pathologically confirmed cases of multiple system atrophy (1999) (58)
- Neuropathology of sporadic amyotrophic lateral sclerosis of long duration (1997) (57)
- Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1 (2018) (56)
- Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5 (2004) (55)
- Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing (2013) (54)
- DNA mutation analysis of Gaucher patients. (1992) (54)
- An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. (1992) (53)
- Fatty acid elongation activity in fibroblasts from patients with adrenoleukodystrophy (ALD). (1984) (53)
- Cerebellar dysfunction in progressive supranuclear palsy: A transcranial magnetic stimulation study (2010) (53)
- Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A (1997) (52)
- A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese. (2011) (51)
- Appropriate data cleaning methods for genome-wide association study (2008) (51)
- CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy (2012) (50)
- Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. (1999) (49)
- Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. (1995) (49)
- Cytotoxic T lymphocyte-mediated cell death in paraneoplastic sensory neuronopathy with anti-Hu antibody (1999) (48)
- Expanded polyglutamine stretches form an ‘aggresome’ (2002) (47)
- Determination of editors at the novel A-to-I editing positions (2008) (47)
- Epidemiology of X-linked adrenoleukodystrophy in Japan (2002) (47)
- A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees (2002) (47)
- TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan. (2010) (47)
- Immunoreactivity of growth inhibitory factor in normal rat brain and after stab wounds — an immunocytochemical study using confocal laser scan microscope (1996) (46)
- GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation (1995) (46)
- Toxicity of expanded polyglutamine‐domain proteins in Escherichia coli (1996) (46)
- Suprachiasmatic nucleus in a patient with multiple system atrophy with abnormal circadian rhythm of arginine-vasopressin secretion into plasma (1998) (46)
- Cytotoxic T cells against a peptide of Yo protein in patients with paraneoplastic cerebellar degeneration and anti-Yo antibody (1999) (46)
- Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. (2008) (46)
- A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. (1998) (45)
- TRPM7 is not associated with amyotrophic lateral sclerosis‐parkinsonism dementia complex in the Kii peninsula of Japan (2009) (44)
- Dementia and delirium in 4 patients with Machado-Joseph disease. (2002) (44)
- Natural history of X-linked adrenoleukodystrophy in Japan (2005) (44)
- Expression of growth inhibitory factor (GIF) in normal and injured rat brains (1995) (44)
- Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B (2012) (44)
- Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye (2013) (43)
- Novel splice variants of human ADAR2 mRNA: skipping of the exon encoding the dsRNA-binding domains, and multiple C-terminal splice sites. (2005) (43)
- Autosomal dominant diffuse Lewy body disease (1998) (42)
- A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique. (1998) (41)
- The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy (2018) (41)
- Neck weakness is a potent prognostic factor in sporadic amyotrophic lateral sclerosis patients (2013) (41)
- Sharing of polyglutamine localization by the neuronal nucleus and cytoplasm in CAG‐repeat diseases (2004) (41)
- Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation (2011) (41)
- MITOCHONDRIAL DNA MUTATION IN FAMILY WITH LEBER'S HEREDITARY OPTIC NEUROPATHY (1989) (41)
- Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice (2008) (41)
- Apolipoprotein E ε4 allele and progression of cortical Lewy body pathology in Parkinson’s disease (1998) (41)
- Hereditary dentatorubral-pallidoluysian atrophy: ubiquitinated filamentous inclusions in the cerebellar dentate nucleus neurons (1998) (40)
- Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus (2004) (40)
- Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy. (2016) (40)
- Successful use of zonisamide for central poststroke pain. (2004) (39)
- Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector. (1988) (39)
- ApoE-epsilon 4 and early-onset Alzheimer's. (1994) (39)
- Cytotoxic T cells react with recombinant Yo protein from a patient with paraneoplastic cerebellar degeneration and anti-Yo antibody (1998) (39)
- Dentatorubral-pallidoluysian atrophy and Haw River syndrome (1994) (39)
- Lack of association of very low density lipoprotein receptor gene polymorphism with caucasian Alzheimer's disease (1996) (38)
- Modulation of error-sensitivity during a prism adaptation task in people with cerebellar degeneration. (2015) (38)
- Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q. (1999) (38)
- Dentatorubral-pallidoluysian atrophy. (2012) (38)
- Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia (2009) (37)
- Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2 B (2012) (36)
- Mutant COQ2 in multiple-system atrophy. (2014) (36)
- JASPAC: Japan Spastic Paraplegia Research Consortium (2018) (36)
- Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis. (1999) (35)
- Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1. (1997) (35)
- Phenotype variation correlates with CAG repeat length in SCA2 - A study of 28 Japanese patients 1 Presented in part at the 122nd annual meeting of the American Neurological Association, San Diego, Cal, Sep–Oct, 1997. 1 (1998) (35)
- Formation of granular cytoplasmic aggregates in COS7 cells expressing mutant Cu/Zn superoxide dismutase associated with familial amyotrophic lateral sclerosis (1998) (35)
- Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1 (2011) (35)
- The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q (1995) (35)
- Abeta42 overproduction associated with structural changes in the catalytic pore of gamma-secretase: common effects of Pen-2 N-terminal elongation and fenofibrate. (2007) (34)
- Diffusion tensor tract-specific analysis of the uncinate fasciculus in patients with amyotrophic lateral sclerosis (2010) (34)
- Expression of intercellular adhesion molecule-1 on transitional cell cancer. Possible significance in immunity against tumor cells. (1993) (34)
- Long-term therapeutic efficacy and safety of low-dose tacrolimus (FK506) for myasthenia gravis (2006) (34)
- Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene (2002) (33)
- Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines (2016) (33)
- X‐linked nonprogressive congenital cerebellar hypoplasia: Clinical description and mapping to chromosome Xq (1996) (33)
- Autosomal recessive juvenile parkinsonism (2000) (33)
- Severe hypokinesis caused by paraneoplastic anti‐Ma2 encephalitis associated with bilateral intratubular germ‐cell neoplasm of the testes (2007) (33)
- Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22-p25. (2001) (33)
- Lymphomatoid granulomatosis involving central nervous system successfully treated with rituximab alone. (2008) (33)
- Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy (2018) (32)
- Lack of association between dopamine D2 receptor gene Cys311 variant and schizophrenia. (1996) (32)
- Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III (2012) (32)
- Physiological significance of fatty acid elongation system in adrenoleukodystrophy (1991) (32)
- Increased gene dosage of myelin protein zero causes Charcot‐Marie‐Tooth disease (2012) (31)
- Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study (2017) (31)
- Thalamic form of Creutzfeldt-Jakob disease or fatal insomnia? Report of a sporadic case with normal prion protein genotype (1997) (31)
- Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) – pathophysiological consideration (2000) (31)
- Patterns of growth inhibitory factor (GIF) and glial fibrillary acidic protein relative level changes differ following left middle cerebral artery occlusion in rats (1996) (31)
- Neuronal nuclear alterations in dentatorubral-pallidoluysian atrophy: ultrastructural and morphometric studies of the cerebellar granule cells (2001) (31)
- Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation (2004) (31)
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- Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation (2018) (29)
- Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5 (2011) (29)
- Metabolism of [17, 18-3H2]hexacosanoic acid and [15,16-3H2]lignoceric acid in cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) (1985) (29)
- A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN (2016) (29)
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- Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity (1997) (27)
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- Organization of the human synphilin-1 gene, a candidate for Parkinson's disease (2000) (27)
- Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation (2003) (27)
- Reduced interhemispheric inhibition in mild cognitive impairment (2012) (27)
- FAT10 Protein Binds to Polyglutamine Proteins and Modulates Their Solubility* (2011) (27)
- Machado-Joseph disease in four Chinese pedigrees (1997) (27)
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- Polyglutamine disease: Recent advances in the neuropathology of dentatorubral‐pallidoluysian atrophy (2006) (26)
- Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1 (2016) (26)
- Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. (2007) (26)
- Uniform tissue distribution of tRNALys mutation in mitochondrial DNA in MERRF patients (1993) (26)
- Postural tremor in X‐linked spinal and bulbar muscular atrophy (2009) (26)
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- A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. (1999) (25)
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- Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation. (2020) (24)
- Mutational Analysis of BRCA1 Gene in Ovarian and Breast‐ovarian Cancer Families in Japan (1997) (24)
- Interference of CREB‐dependent transcriptional activation by expanded polyglutamine stretches – augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases (2005) (24)
- Dentatorubral-pallidoluysian atrophy (DRPLA) presenting with psychosis. (2001) (23)
- Mostly separate distributions of CLAC- versus Abeta40- or thioflavin S-reactivities in senile plaques reveal two distinct subpopulations of beta-amyloid deposits. (2004) (23)
- Genome-wide association database developed in the Japanese Integrated Database Project (2009) (23)
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- Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families. (2001) (23)
- Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families. (1996) (23)
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- Evaluation of spinal and bulbar muscular atrophy by the clustering index method (2011) (22)
- Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS (2018) (22)
- Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy (2004) (22)
- The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia. (1998) (22)
- Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation (2015) (22)
- Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology (2017) (21)
- Abeta1-40 but not Abeta1-42 levels in cortex correlate with apolipoprotein E epsilon4 allele dosage in sporadic Alzheimer's disease. (1997) (21)
- Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy. (2006) (21)
- Autotaxin enzyme immunoassay in human cerebrospinal fluid samples. (2009) (21)
- Polymyositis associated with focal mesangial proliferative glomerulonephritis with depositions of immune complexes (2006) (21)
- Progressive supranuclear palsy with wall-eyed bilateral internuclear ophthalmoplegia syndrome. (2008) (21)
- Successful treatment of an unresectable inflammatory myofibroblastic tumor of the frontal bone using a cyclooxygenase-2 inhibitor and methotrexate. (2013) (21)
- Unstable expansion of triplet repeats as a new disease mechanism for neurodegenerative diseases (1996) (20)
- Adrenoleukodystrophy. A correlative analysis of computed tomography and radionuclide studies. (1978) (20)
- Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells (2018) (20)
- Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. (1997) (20)
- DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles (2012) (20)
- Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography (1996) (20)
- Culture-negative brain abscess with Streptococcus intermedius infection with diagnosis established by direct nucleotide sequence analysis of the 16s ribosomal RNA gene. (2012) (20)
- An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy (2018) (20)
- Oligodendrocytic polyglutamine pathology in dentatorubral‐pallidoluysian atrophy (2002) (20)
- Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population (2012) (20)
- Ubiquitinated filamentous inclusions in cerebellar dentate nucleus neurons in dentatorubral-pallidoluysian atrophy contain expanded polyglutamine stretches (2000) (20)
- Lack of association between dopamine D4 receptor gene and schizophrenia. (1995) (19)
- Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease. (1996) (19)
- Dendritic cells presenting pyruvate kinase M1/M2 isozyme peptide can induce experimental allergic myositis in BALB/c mice (2001) (19)
- Cytotoxic T cell activity against the peptide, AYRARALEL, from Yo protein of patients with the HLA A24 or B27 supertype and paraneoplastic cerebellar degeneration (2001) (19)
- Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72 (2015) (19)
- Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders (2020) (19)
- Cytotoxic T lymphocyte-mediated cell death in paraneoplastic sensory neuronopathy with anti-Hu antibody (1998) (19)
- Assignment of the human ST2 gene to chromosome 2 at q11.2 (1996) (19)
- A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation (1999) (19)
- Simple detection of tRNALys mutation in myoclonus epilepsy associated with ragged‐red fibers (MERRF) by polymerase chain reaction with a mismatched primer (1991) (19)
- Initial genome‐wide scan for linkage with schizophrenia in the Japanese schizophrenia sib‐pair linkage group (JSSLG) families (2003) (18)
- Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. (2011) (18)
- Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing (2017) (18)
- Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes. (2021) (18)
- Structural Basis and Genotype–Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance (2017) (18)
- Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy (1997) (18)
- Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics. (2002) (17)
- The neurogenomics view of neurological diseases. (2013) (17)
- Tacrolimus-Induced Reversible Cerebral Vasoconstriction Syndrome with Delayed Multi-Segmental Vasoconstriction. (2017) (17)
- Rapid diagnosis of tuberculous meningitis by polymerase chain reaction (PCR). (1990) (17)
- VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia (2019) (17)
- Differential Effect of HDAC3 on Cytoplasmic and Nuclear Huntingtin Aggregates (2014) (16)
- Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: Clinical presentations and analysis of genetic and molecular pathogenesis (2010) (16)
- Increased facilitation of the primary motor cortex in de novo Parkinson's disease. (2019) (16)
- Multiple system atrophy variant with severe hippocampal pathology (2021) (16)
- HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data (2021) (16)
- Effects of phospholipids on antiganglioside antibody reactivity in GBS (2005) (16)
- Lysosomal sialidase deficiency in sialidosis with partial beta-galactosidase deficiency. (1983) (16)
- Familial cases presenting very early onset autosomal dominant Alzheimer’s disease with I143T in presenilin-1 gene: implication for genotype–phenotype correlation (2008) (16)
- Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene (2020) (16)
- Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42 (2019) (15)
- ANovel Mutation in ELOVL 4 Leading to Spinocerebellar Ataxia ( SCA ) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia A Broadened Spectrum of SCA 34 (2015) (15)
- Mutational Analysis of BRCA 1 and BRCA 2 and Clinicopathologic Analysis of Ovarian Cancer in 82 Ovarian Cancer Families : Two Common Founder Mutations of BRCA 1 in Japanese Population 1 (2001) (15)
- Motor neuron disease with multi-system involvement presenting as tetraparesis, ophthalmoplegia and sensori-autonomic dysfunction (2004) (15)
- Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer (2010) (15)
- The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case (2018) (15)
- Chromosomal Localization of the ϵ1, ϵ3, and ζ1 Subunit Genes of the Human NMDA Receptor Channel (1993) (15)
- IFNβ-1b may severely exacerbate Japanese opticspinal MS in neuromyelitis optica spectrum: Japanese optic-spinal MS: Is it MS or neuromyelitis optica and does the answer dictate treatment? (2011) (15)
- Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy (2010) (15)
- Autosomal linkage analysis of a Japanese single multiplex schizophrenia pedigree reveals two candidate loci on chromosomes 4q and 3q (2007) (14)
- PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia (2018) (14)
- TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy (2016) (14)
- Recurrent cerebral aneurysm formation and rupture within a short period due to invasive aspergillosis of the nasal sinus; pathological analysis of the catastrophic clinical course. (2015) (14)
- CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. (2018) (14)
- Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment (2018) (14)
- Partial duplication of DHH causes minifascicular neuropathy (2017) (14)
- Linkage analysis of juvenile parkinsonism to tyrosine hydroxylase gene locus on chromosome 11 (1991) (13)
- UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes (2019) (13)
- An open trial of long‐term testosterone suppression in spinal and bulbar muscular atrophy (2013) (13)
- Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q. (1999) (13)
- Cyclosporine A-associated fatal central nervous system angiopathy in a bone marrow transplant recipient: an autopsy case (2000) (13)
- Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia (2018) (13)
- Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome (2015) (13)
- The 3-Second Rule in Hereditary Pure Cerebellar Ataxia: A Synchronized Tapping Study (2015) (13)
- Does the Clock Tick Slower or Faster in Parkinson’s Disease? – Insights Gained From the Synchronized Tapping Task (2018) (13)
- Spinocerebellar ataxia type 2 in China (1998) (13)
- Fukutin gene mutations that cause left ventricular noncompaction. (2016) (13)
- Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan (2018) (12)
- Anti-NMDA receptor encephalitis associated with transient cerebral dyschromatopsia, prosopagnosia, and lack of stereopsis. (2014) (12)
- Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease (2011) (12)
- 'Essential tremor' and CAG repeats in the androgen receptor gene (1993) (12)
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- Assessing Cell-to-Cell DNA Methylation Variability on Individual Long Reads (2016) (12)
- Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28. (1992) (12)
- Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis (2020) (12)
- Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia (1999) (12)
- Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients. (2020) (11)
- Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy) (2001) (11)
- Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype (2017) (11)
- Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants (2017) (11)
- Anti-Yo antibody binding to 62-, 52-, or 58-kd protein recognizes a single molecule (1996) (11)
- Pick’s disease: selective occurrence of apolipoprotein E-immunoreactive Pick bodies in the limbic system (1997) (11)
- [A case of asymmetric demyelinating neuropathy in a patient with chronic graft-versus-host disease]. (2005) (11)
- Failure to Detect Cytotoxic T Cell Activity against Recombinant Yo Protein Using Autologous Dendritic Cells as the Target in a Patient with Paraneoplastic Cerebellar Degeneration and Anti-Yo Antibody (1998) (11)
- Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium (1998) (11)
- A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1. (2013) (11)
- Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome (2017) (11)
- [Familial Alzheimer disease]. (2011) (11)
- [Japan spastic paraplegia research consortium (JASPAC)]. (2010) (11)
- Long term course of change in anti-Yo antibody content in paraneoplastic cerebellar degeneration. (1995) (11)
- Shy-Drager syndrome with abnormal circadian rhythm of plasma antidiuretic hormone secretion and urinary excretion. (1993) (11)
- Trinucleotide Repeats in 202 Families With Ataxia (2002) (11)
- Dentatorubropallidoluysian atrophy: clinicopathological study of dementia and involvement of the nucleus basalis of Meynert in seven autopsy cases (1998) (11)
- Adrenoleukodystrophy presenting as spinocerebellar degeneration. (1989) (11)
- Progressive apraxic agraphia with micrographia presenting as corticobasal syndrome showing extensive Pittsburgh compound B uptake (2013) (11)
- Detection and quantification of point mutations in mitochondrial DNA by PCR. (1996) (10)
- Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. (2021) (10)
- Stability of messenger RNA in postmortem human brains and construction of human brain cDNA libraries (2008) (10)
- Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy (2020) (10)
- Five year follow up of a patient with spinal and bulbar muscular atrophy treated with leuprorelin (2004) (10)
- Double-pulse magnetic brain stem stimulation: mimicking successive descending volleys. (2008) (10)
- Transmission disequilibrium test and haplotype analysis of the NOTCH4 gene in Japanese patients with schizophrenia (2004) (10)
- Comprehensive silencing of target-sharing microRNAs is a mechanism for SIRT1 overexpression in cancer (2014) (10)
- Primary face motor area as the motor representation of articulation (2007) (10)
- Churg-Strauss syndrome and the leukotriene receptor antagonist pranlukast (2005) (10)
- Atypical parkinsonism caused by Pro105Leu mutation of prion protein (2016) (10)
- Triad stimulation frequency for cortical facilitation in cortical myoclonus (2011) (10)
- Expanded polyglutamine stretches lead to aberrant transcriptional regulation in polyglutamine diseases. (2001) (10)
- Pigmentary macular dystrophy in spinocerebellar ataxia type 1 (2006) (10)
- Unilateral opercular infarction presenting with Foix-Chavany-Marie Syndrome. (2014) (10)
- SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report (2018) (10)
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- Structures of the human and mouse growth inhibitory factor-encoding genes. (1994) (9)
- Familial amyotrophic lateral sclerosis with novel A4D SOD1 mutation with late age at onset and rapid progressive course (2013) (9)
- Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients (1995) (9)
- Top-Down but Not Bottom-Up Visual Scanning is Affected in Hereditary Pure Cerebellar Ataxia (2014) (9)
- Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing (2017) (9)
- Elevated Serum Uric Acid Levels Are Related to Cognitive Deterioration in an Elderly Japanese Population (2016) (9)
- Molecular cloning of murine homologue dentatorubral-pallidoluysian atrophy (DRPLA) cDNA: strong conservation of a polymorphic CAG repeat in the murine gene. (1997) (9)
- Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies (2016) (9)
- Association of subclinical carotid atherosclerosis with immediate memory and other cognitive functions (2018) (9)
- Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians (2013) (9)
- Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease (2017) (8)
- Cephalic tetanus presenting as acute vertigo with bilateral vestibulopathy (2011) (8)
- Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the TOR1A (DYT1) gene (2002) (8)
- Paraneoplastic striatal encephalitis (2001) (8)
- A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father. (1996) (8)
- Interference with activity-dependent transcriptional activation of BDNF gene depending upon the expanded polyglutamines in neurons. (2005) (8)
- A systematic immunoprecipitation approach reinforces the concept of common conformational alterations in amyotrophic lateral sclerosis-linked SOD1 mutants (2015) (8)
- [Dentatorubral-pallidoluysian atrophy (DRPLA)]. (2007) (8)
- Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2 (2020) (8)
- A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation. (2010) (8)
- [A case of complicated form of hereditary spastic paraplegia associated with hypoplasia of the corpus callosum and cataracta]. (1995) (8)
- Genotype‐phenotype correlation in CAG‐repeat diseases (2002) (8)
- Origin of ulnar compound muscle action potential investigated in patients with ulnar neuropathy at the wrist (2010) (8)
- Time course of polyglutamine aggregate body formation and cell death: Enhanced growth in nucleus and an interval for cell death (2002) (8)
- Polyglutamine represses cAMP-responsive-element-mediated transcription without aggregate formation (2005) (8)
- Mutational analysis of X-linked adrenoleukodystrophy gene (2007) (8)
- Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia (2020) (7)
- Chromosomal localization of the epsilon 1, epsilon 3 and zeta 1 subunit genes of the human NMDA receptor channel. (1993) (7)
- The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene. (2015) (7)
- Interferon γ but not tumor necrosis factor α decreases susceptibility of human renal cell cancer cell lines to lymphokine-activated killer cells (2005) (7)
- Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population (2020) (7)
- Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family (1998) (7)
- Dentatorubral-pallidoluysian atrophy (DRPLA). (2000) (7)
- Absence of anti-P/Q calcium channel antibody in the sera of patients with anti-Yo antibody-positive paraneoplastic cerebellar degeneration (1997) (7)
- Hypertrophic cardiomyopathy and increased number of CAG repeats in the androgen receptor gene. (1993) (7)
- [Severely abnormal electroencephalogram in two patients who were treated with cefepime]. (2012) (7)
- Simultaneous detection of reduced and oxidized forms of coenzyme Q10 in human cerebral spinal fluid as a potential marker of oxidative stress (2018) (7)
- [A case of early stage CADASIL showing only dizziness and vertigo with a novel mutation of Notch 3 gene]. (2005) (7)
- Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis (2013) (7)
- Construction of an equalized cDNA library from human brain by semi-solid self-hybridization system. (1994) (7)
- Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds (1994) (7)
- Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12. (2010) (7)
- Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan (2020) (7)
- Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8 (2016) (6)
- A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient (2017) (6)
- Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep (2012) (6)
- Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion. (2019) (6)
- [MRI findings of posterior spinal artery syndrome--report of a case]. (1994) (6)
- Adult-form galactosialidosis: ocular findings in three cases. (1991) (6)
- Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells (2019) (6)
- A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report (1998) (6)
- Neuron-specific analysis of histone modifications with post-mortem brains (2020) (6)
- No Ataxia and No Purkinje Cell Loss in Newborn Young of SJL Mice with Anti-Yo Antibody (1998) (6)
- [A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) with a T-to-C point mutation at nt 8993 of mitochondrial DNA]. (2000) (6)
- ENHANCED SYNTHESIS OF HEXACOSANOIC ACID IN THE CULTURED FIBROBLASTS FROM PATIENTS WITH AD RENOLEUKODYSTROPHY (1988) (6)
- [An autopsy case of systemic vasculitis associated with hepatitis C virus-related mixed cryoglobulinemia presenting severe peripheral neuropathy]. (2004) (6)
- Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission (1998) (6)
- Two-step technique to optimize the medial antebrachial cutaneous nerve response (2010) (6)
- Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familia Alzheimer's disease with 717Val→Ile mutation (1993) (6)
- Isolation of 353 NotI-linking clones and 62 DNA markers (DXS607-DXS668) from human chromosome Xq24-->qter. (1993) (6)
- SNP Haplotype Mapping in a Small ALS Family (2009) (6)
- Isolated seizure as initial presentation of GABAA receptor antibody-associated encephalitis (2020) (5)
- DRPLA: recent advances in research using transgenic mouse models. (2013) (5)
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- [The detection of anti-Purkinje cell antibody (anti-Yo antibody) by ELISA using recombinant Yo fusion protein]. (1994) (5)
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- [Neurosurgery and molecular biology: (series 9). Application of molecular genetics for understanding of neurologic diseases]. (1998) (0)
- [The correlation of the heteroplasmy of mtDNA and clinicopathological findings in the patients with mitochondrial encephalomyopathies]. (1997) (0)
- Degeneration of the Substantia Nigra Following Ipsilateral Striatal Infarction (2017) (0)
- P3-171 Genetic analysis of LRRK2 in parkinson disease and Alzheimer disease datasets (2006) (0)
- Cardiac Involvements in Anti-Mitochondrial Antibody-Positive Myositis (P07.046) (2013) (0)
- ATYPICAL NEUROFIBRILLARY TANGLES STAINED WITH α-SYNUCLEIN/NACP (1999) (0)
- [Mutations of amyloid precursor protein in early-onset familial Alzheimer's disease]. (1992) (0)
- UBAP 1 mutations cause juvenile-onset hereditary spastic paraplegias ( SPG 80 ) and impair UBAP 1 targeting to endosomes (2019) (0)
- Molecular diagnosis in neurological disorders (1995) (0)
- LACK OF ASSOCIATION BETWEEN HUMAN LEUKOCYTE ANTIGENS AND ANTI-HU SYNDROME IN PATIENTS WITH SMALL-CELL LUNG CANCER. AUTHORS' REPLY (1999) (0)
- Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature (2021) (0)
- RNA editing enzyme abnormality in sporadic amyotrophic lateral sclerosis (2010) (0)
- [Molecular genetic analysis of neurologic diseases]. (1990) (0)
- P4-205: APP cleavage by gamma-secretase: To test the tripeptide hypothesis using LC-MS/MS (2008) (0)
- P08.3 Evaluation of pyramidal tract degeneration in spinocerebellar degeneration (SCD) using diffusion tensor tractography (DTT) (2006) (0)
- System Aggregates by the Ubiquitin-Proteasome Intranuclear Degradation of Polyglutamine Modification , and Degradation : Protein Synthesis , Post-Translational (2009) (0)
- Nitric oxide production by neutrophils stimulated by Shiga-toxin in children (2010) (0)
- Monitoring Daily Life Activity Reveals Less Consumed Calories Among Dementia Patients (2011) (0)
- Massively parallel sequence analysis reveals the causative gene of an autosomal recessive neurodegenerative disorder, posterior column ataxia with retinitis pigmentosa (2011) (0)
- COGNITIVE IMPAIRMENT IN ASSOCIATION WITH AMYLOID DEPOSITION AND MEDIAL TEMPORAL LOBE VOLUME IN DEMENTIA WITH LEWY BODIES (2017) (0)
- Successful management of chronic myeloid leukemia with a complication of anti-SRP antibody-associated myopathy (2017) (0)
- [Adrenomyeloneuropathy. Report of two siblings and female heterozygote with spastic paraparesis]. (1982) (0)
- The early detection of cognitive deterioration in normal populations attending medical checkups of the brain (2010) (0)
- Molecular cloning ofhumangrowthinhibitory factor cDNAanditsdown-regulation inAlzheimer's disease (1992) (0)
- [Diseases in the field of internal medicine and gene abnormalities. 5. Nervous system diseases--molecular genetics of hereditary spinocerebellar degeneration]. (1996) (0)
- S161. Eye-hand coordination in hereditary spinocerebellar degeneration (2018) (0)
- Identification of the leader sequence of human β-glucocerebrosidase (1985) (0)
- A novel multi‐exon deletion in the dysferlin gene of a limb‐girdle muscular dystrophy type 2B Filipino patient (2020) (0)
- T cell mediated myositis in SJL/J mice (1998) (0)
- [Future prospect of molecular genetics studies on DRPLA]. (1999) (0)
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What Schools Are Affiliated With Shoji Tsuji?
Shoji Tsuji is affiliated with the following schools:
