S. Tsuji

Taro L. Saito, T. Matsukawa, S. Tsuji, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

UBAP 1 mutations cause juvenile-onset hereditary spastic paraplegias ( SPG 80 ) and impair UBAP 1 targeting to endosomes

S. Hamada, S. Tsuji, H. Ishiura, 2019 .

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

S. Hamada, S. Tsuji, H. Ishiura, 2019, Journal of Human Genetics.

Pathology of CAG repeat diseases

S. Tsuji, Hitoshi Takahashi, M. Yamada, 2000, Neuropathology : official journal of the Japanese Society of Neuropathology.

Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42

S. Tsuji, Yukihiro Nakamura, N. Matsumoto, 2019, Neurobiology of Disease.

Machado–Joseph disease gene products carrying different carboxyl termini

Masahiko Watanabe, I. Kanazawa, S. Tsuji, 1997, Neuroscience Research.

SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

J. Haines, M. Pericak-Vance, G. Schellenberg, 2013, PloS one.

Itraconazole-Induced Cholestasis: Involvement of the Inhibition of Bile Canalicular Phospholipid Translocator MDR3/ABCB4

S. Tsuji, H. Yoshida, Y. Yatomi, 2011, Molecular Pharmacology.

Neuron-specific methylome analysis reveals epigenetic regulation and tau-related dysfunction of BRCA1 in Alzheimer’s disease

S. Tsuji, T. Iwatsubo, T. Ushijima, 2017, Proceedings of the National Academy of Sciences.

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis

S. Tsuji, S. Morishita, N. Saito, 2020, Scientific Reports.

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

S. Tsuji, N. Matsumoto, S. Morishita, 2015 .

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.

S. Tsuji, N. Matsumoto, S. Morishita, 2015, JAMA neurology.

Neuropathology of sporadic amyotrophic lateral sclerosis of long duration

S. Tsuji, Hitoshi Takahashi, S. Hayashi, 1997, Journal of the Neurological Sciences.

B-CELL ACTIVATING FACTOR OF THE TNF FAMILY IS UPREGULATED IN NEUROMYELITIS OPTICA

S. Tsuji, J. Kira, K. Okada, 2010, Neurology.

Magnetic lumbosacral motor root stimulation with a flat, large round coil

S. Tsuji, R. Hanajima, M. Hamada, 2009, Clinical Neurophysiology.

Apolipoprotein E epsilon4 allele and progression of cortical Lewy body pathology in Parkinson's disease.

S. Tsuji, A. Kakita, S. Hayashi, 1998, Acta neuropathologica.

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.

S. Tsuji, T. Bird, S. Kikuchi, 2003, Archives of neurology.

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

S. Tsuji, S. Morishita, N. Saito, 2020, Journal of Medical Genetics.

Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders

S. Tsuji, N. Wood, H. Houlden, 2020, Movement disorders : official journal of the Movement Disorder Society.

No mutation in the entire coding region of the α-synuclein gene in pathologically confirmed cases of multiple system atrophy

S. Tsuji, Hitoshi Takahashi, T. Shimohata, 1999, Neuroscience Letters.

Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III

K. Sakamoto, S. Tsuji, N. Matsumoto, 2012, Journal of the Neurological Sciences.

Autosomal recessive juvenile parkinsonism

S. Tsuji, T. Yuasa, A. Ishikawa, 2000, Brain and Development.

Autosomal dominant diffuse Lewy body disease

S. Tsuji, Hitoshi Takahashi, S. Hayashi, 1998, Acta Neuropathologica.

Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission

S. Tsuji, T. Shimohata, H. Tanaka, 1998, Neurology.

Anti-Yo antibody binding to 62-, 52-, or 58-kd protein recognizes a single molecule

S. Tsuji, K. Tanaka, T. Tsukamoto, 1996, Neurology.

Genetics of neurodegenerative diseases: insights from high-throughput resequencing

S. Tsuji, 2010, Human molecular genetics.

Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.

S. Tsuji, Y. Takiyama, T. Ikeuchi, 1996, American journal of human genetics.

A positron emission tomography study on the role of nigral lesions in parkinsonism in patients with amyotrophic lateral sclerosis.

S. Tsuji, T. Momose, J. Shimizu, 2006, Archives of Neurology.

Variants associated with Gaucher disease in multiple system atrophy

J. Trojanowski, S. Gilman, Y. Kuroiwa, 2015, Annals of clinical and translational neurology.

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

S. Tsuji, O. Onodera, R. Sasaki, 1999, Archives of neurology.

Mutational analysis of X-linked adrenoleukodystrophy gene

S. Tsuji, O. Onodera, R. Koike, 2007, Cell Biochemistry and Biophysics.

Adrenoleukodystrophy with involvement of the cerebral cortex

S. Tsuji, A. Kakita, Hitoshi Takahashi, 1997 .

ENHANCED SYNTHESIS OF HEXACOSANOIC ACID IN THE CULTURED FIBROBLASTS FROM PATIENTS WITH AD RENOLEUKODYSTROPHY

S. Tsuji, T. Miyatake, S. Ando, 1988 .

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)

S. Tsuji, T. Miyatake, T. Ariga, 1985, Journal of the Neurological Sciences.

Abnormality of Long‐Chain Fatty Acids in Erythrocyte Membrane Sphingomyelin from Patients with Adrenoleukodystrophy

S. Tsuji, T. Miyatake, M. Suzuki, 1981, Journal of neurochemistry.

Adrenoleukodystrophy. A correlative analysis of computed tomography and radionuclide studies.

S. Tsuji, T. Miyatake, M. Furuse, 1978, Radiology.

Multiplex families with multiple system atrophy.

I. Kanazawa, S. Tsuji, A. Kakita, 2007, Archives of neurology.

DIRECT technologies for molecular cloning of genes containing expanded CAG repeats.

S. Tsuji, T. Ikeuchi, K. Sanpei, 2003, Methods in molecular biology.

Interferon γ but not tumor necrosis factor α decreases susceptibility of human renal cell cancer cell lines to lymphokine-activated killer cells

S. Tsuji, Y. Tomita, Hisami Watanabe, 2005, Cancer Immunology, Immunotherapy.

Construction of an equalized cDNA library from human brain by semi-solid self-hybridization system.

S. Tsuji, M. Oishi, D. Ayusawa, 1994, DNA research : an international journal for rapid publication of reports on genes and genomes.

Molecular cloning of rat growth inhibitory factor cDNA and the expression in the central nervous system.

S. Tsuji, T. Miyatake, Y. Ihara, 1993, Brain research. Molecular brain research.

Expression of intercellular adhesion molecule-1 on transitional cell cancer. Possible significance in immunity against tumor cells.

S. Tsuji, Y. Tomita, S. Sato, 1993, The American journal of pathology.

Motor cortical epilepsia partialis continua in a patient with a localized sensory cortical lesion

S. Tsuji, R. Hanajima, Y. Terao, 2009, Clinical Neurology and Neurosurgery.

Persistent pain as a non-motor symptom in corticobasal syndrome

S. Tsuji, A. Iwata, R. Ohtomo, 2016, Journal of Clinical Neuroscience.

Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients.

A. Lang, S. Tsuji, H. Houlden, 2020, Parkinsonism & related disorders.

[Susceptibility gene in multiple system atrophy (MSA)].

S. Tsuji, 2014, Rinsho shinkeigaku = Clinical neurology.

[Therapeutic trial design issues for future disease-modifying therapy of multiple system atrophy].

S. Tsuji, J. Goto, J. Mitsui, 2011, Rinsho shinkeigaku = Clinical neurology.

Spinocerebellar ataxia type 2 in China

S. Tsuji, B. Tang, N. Sambuughin, 1998, Neurology.

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

Í. Lopes-Cendes, S. Tsuji, A. Brice, 2001, American journal of human genetics.

Novel mutations, pseudo‐dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism

S. Tsuji, T. Yuasa, Hitoshi Takahashi, 2000, Annals of neurology.

Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

S. Tsuji, N. Wakamatsu, H. Kawai, 1999, Journal of neurology, neurosurgery, and psychiatry.

The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia.

S. Tsuji, S. Limborska, P. Slominsky, 1998, Archives of neurology.

Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q.

S. Tsuji, S. Matsushita, K. Kamakura, 1999, American journal of medical genetics.

Polyglutamine represses cAMP-responsive-element-mediated transcription without aggregate formation

S. Tsuji, M. Nishizawa, O. Onodera, 2005, Neuroreport.

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.

Nobutaka Hattori, Hiroyuki Aburatani, Hiroyuki Tomiyama, 2010, American journal of human genetics.

Analysis of the expression level of α-synuclein mRNA using postmortem brain samples from pathologically confirmed cases of multiple system atrophy

S. Tsuji, Hitoshi Takahashi, K. Wakabayashi, 2001, Acta Neuropathologica.

Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1

I. Kanazawa, S. Tsuji, S. Morishita, 2013, Journal of the Neurological Sciences.

A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation

S. Tsuji, T. Shimohata, T. Ikeuchi, 1999, Neurogenetics.

Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the TOR1A (DYT1) gene

S. Tsuji, T. Shimohata, T. Ikeuchi, 2002, Neurogenetics.

Coenzyme Q10, iron, and vitamin B6 in genetically-confirmed Alzheimer's disease

S. Tsuji, M. Imagawa, H. Yamaguchi, 1992, The Lancet.

Mutant COQ2 in multiple-system atrophy.

S. Tsuji, J. Mitsui, 2014, The New England journal of medicine.

Differential Effect of HDAC3 on Cytoplasmic and Nuclear Huntingtin Aggregates

S. Tsuji, Takayoshi Suzuki, A. Iwata, 2014, PloS one.

Oligodendrocytic polyglutamine pathology in dentatorubral‐pallidoluysian atrophy

S. Tsuji, Hitoshi Takahashi, M. Yamada, 2002, Annals of neurology.

Familial dementia with Lewy bodies with VPS13C mutations.

S. Tsuji, H. Ishiura, J. Mitsui, 2020, Parkinsonism & related disorders.

Thalamic form of Creutzfeldt-Jakob disease or fatal insomnia? Report of a sporadic case with normal prion protein genotype

S. Tsuji, K. Kawasaki, K. Wakabayashi, 1997, Acta Neuropathologica.

Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.

B. Migeon, S. Tsuji, E. Ginns, 1987, European journal of biochemistry.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

Robert H. Brown, A. Fujiyama, A. Toyoda, 2013, American journal of human genetics.

Inflammatory myopathies associated with anti-mitochondrial antibodies.

S. Tsuji, J. Shimizu, M. Maeda, 2012, Brain : a journal of neurology.

Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation.

S. Tsuji, H. Ishiura, 2020, Current opinion in genetics & development.

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

S. Tsuji, S. Kusunoki, Hidekazu Suzuki, 2018, eNeurologicalSci.

Pick’s disease: selective occurrence of apolipoprotein E-immunoreactive Pick bodies in the limbic system

S. Tsuji, A. Kakita, Hitoshi Takahashi, 1997, Acta Neuropathologica.

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome

S. Tsuji, H. Ishiura, Y. Takiyama, 2015, Journal of Human Genetics.

TRPM7 is not associated with amyotrophic lateral sclerosis‐parkinsonism dementia complex in the Kii peninsula of Japan

S. Tsuji, A. Miyashita, R. Kuwano, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

S. Tsuji, V. Wong, A. Dürr, 2007, Archives of neurology.

Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation

S. Tsuji, J. Hamada, Yuji Takahashi, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy

S. Tsuji, H. Ishiura, J. Mitsui, 2019, Internal medicine.

Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants

S. Tsuji, T. Nakamura, K. Haginoya, 2017, Clinical genetics.

[MRI findings of olivopontocerebellar atrophy and Machado-Joseph disease--diagnostic value of transverse pontine fibers].

S. Tsuji, T. Yuasa, O. Onodera, 1993, Rinsho shinkeigaku = Clinical neurology.

Optineurin pathology in the spinal cord of amyotrophic lateral sclerosis/parkinsonism‐dementia complex patients in Kii Peninsula, Japan

S. Tsuji, S. Murayama, H. Ishiura, 2018, Brain pathology.

Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72

S. Tsuji, H. Ishiura, 2015, Journal of neurogenetics.

C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.

S. Tsuji, L. Ranum, H. Ishiura, 2012, Archives of neurology.

C 9 ORF 72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan

S. Tsuji, L. Ranum, H. Ishiura, 2012 .

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

T Yuasa, S. Tsuji, T. Yuasa, 1998, Annals of neurology.

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.

I. Kanazawa, S. Tsuji, Koichiro Nakamura, 2001, Human molecular genetics.

Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus

I. Kanazawa, S. Tsuji, A. Miyashita, 2004, Neurology.

Spinocerebellar ataxia type 17: latest member of polyglutamine disease group highlights unanswered questions.

S. Tsuji, 2004, Archives of neurology.

Spinocerebellar Ataxia 17 (SCA17)

S. Tsuji, 2003 .

14-3-3 protein eta chain gene (YWHAH) polymorphism and its genetic association with schizophrenia.

S. Tsuji, T. Kumanishi, S Igarashi, 1999, American journal of medical genetics.

Oligomerization of expanded-polyglutamine domain fluorescent fusion proteins in cultured mammalian cells.

A. Roses, S. Tsuji, W. Strittmatter, 1997, Biochemical and biophysical research communications.

ApoE-epsilon 4 and early-onset Alzheimer's.

S. Tsuji, K. Oyanagi, H. Takahashi, 1994, Nature genetics.

Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1.

Y. Fukushima, S. Tsuji, J. Sakakibara, 1997, Genomics.

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

S Kobayashi, S. Tsuji, M. Yamada, 1999, Human molecular genetics.

Dentatorubral-pallidoluysian atrophy (DRPLA).

S. Tsuji, S Tsuji, 2000, Journal of neural transmission. Supplementum.

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

S. Tsuji, M. Nishizawa, Yuji Takahashi, 2008, Neurology.

A Prospective, Multicenter, Randomized Phase II Study to Evaluate the Efficacy and Safety of Eculizumab in Patients with Guillain-Barré Syndrome (GBS): Protocol of Japanese Eculizumab Trial for GBS (JET-GBS)

S. Tsuji, K. Hirata, J. Kira, 2016, JMIR research protocols.

Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy

S. Tsuji, T. Yuasa, T. Miyatake, 2004, Journal of Neurology.

A systematic immunoprecipitation approach reinforces the concept of common conformational alterations in amyotrophic lateral sclerosis-linked SOD1 mutants

S. Tsuji, H. Ichijo, H. Nishitoh, 2015, Neurobiology of Disease.

Effects of phospholipids on antiganglioside antibody reactivity in GBS

S. Tsuji, S. Kusunoki, D. Morita, 2005, Journal of Neuroimmunology.

Clinical features of inherited neuropathy with BSCL2 mutations in Japan

S. Tsuji, S. Suwazono, M. Nakagawa, 2020, Journal of the peripheral nervous system : JPNS.

Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.

S. Tsuji, M. Yamada, M. Nishizawa, 2011, Brain : a journal of neurology.

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′-phosphoglycolate ends

S. Tsuji, M. Nishizawa, H. Date, 2007, Nucleic acids research.

Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation

T. Hashimoto, S. Tsuji, S. Ikeda, 2003, Movement disorders : official journal of the Movement Disorder Society.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations

S. Tsuji, H. Shimazaki, M. Nishizawa, 2002, Neurology.

Pure cerebellar ataxia phenotype in Machado-Joseph disease

S. Tsuji, H. Mizusawa, S. Shoji, 1996, Neurology.

Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.

S. Tsuji, E. Ginns, P. Choudary, 1986, The Journal of biological chemistry.

Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan

S. Tsuji, M. Morita, N. Kokubun, 2018, Journal of the peripheral nervous system : JPNS.

Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy

T. Matsukawa, S. Tsuji, J. Mitsui, 2019, neurogenetics.

Letter re: A genome-wide association study in multiple system atrophy

S. Tsuji, J. Mitsui, 2017, Neurology.

Dentatorubral-pallidoluysian atrophy (DRPLA): clinical features and molecular genetics.

S. Tsuji, S. Tsuji, 1999, Advances in neurology.

A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis‐linked SOD1 mutants

S. Tsuji, H. Ichijo, H. Nishitoh, 2012, Annals of neurology.

Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds

S. Tsuji, T. Miyatake, K. Kaneko, 1994, Human Genetics.

Accurate Identification of X-Linked Adrenoleukodystrophy Heterozygotes Based on Application of a Discriminant Function to Very Long-Chain Fatty Acid Assays

S. Tsuji, J. Gärtner, O. Onodera, 2003 .

Novel mutation in the SOD1 gene in a patient with early‐onset, rapidly progressive amyotrophic lateral sclerosis

S. Tsuji, S. Kusunoki, Hidekazu Suzuki, 2017 .

Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation

S. Tsuji, Hitoshi Takahashi, Y. Piao, 2004, Acta Neuropathologica.

Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene

S. Tsuji, K. Sakimura, M. Mishina, 2004, Acta Neuropathologica.

A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN

S. Tsuji, G. Sobue, M. Kubo, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.

S. Tsuji, V. Wong, G. Stevanin, 2012, Archives of neurology.

Accumulation of transportin 1 in the fused in sarcoma‐positive neuronal inclusions in sporadic amyotrophic lateral sclerosis without FUS mutation

S. Tsuji, S. Murayama, Y. Kakuta, 2015 .

Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population

S. Tsuji, S. Murayama, H. Ishiura, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2

S. Tsuji, S. Morishita, S. Kitanaka, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Exome sequencing shows a novel de novo mutation in ATL1

S. Tsuji, S. Morishita, H. Ishiura, 2014 .

Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch

S. Tsuji, Hitoshi Takahashi, T. Inuzuka, 1998, Nature Genetics.

Ubiquitinated filamentous inclusions in cerebellar dentate nucleus neurons in dentatorubral-pallidoluysian atrophy contain expanded polyglutamine stretches

S. Tsuji, Y. Piao, M. Yamada, 2000, Acta Neuropathologica.

Formation of granular cytoplasmic aggregates in COS7 cells expressing mutant Cu/Zn superoxide dismutase associated with familial amyotrophic lateral sclerosis

S. Tsuji, Hitoshi Takahashi, T. Inuzuka, 1998, Neuroscience Letters.

Cytotoxic T lymphocyte-mediated cell death in paraneoplastic sensory neuronopathy with anti-Hu antibody

S. Tsuji, T. Inuzuka, Masami Tanaka, 1999, Journal of the Neurological Sciences.

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

T. Matsukawa, S. Tsuji, H. Ishiura, 2019, neurogenetics.

Studies of the candidate genes in X-linked congenital cerebellar hypoplasia

C. Walsh, S. Tsuji, J. Gleeson, 1999, Journal of Neurology.

Familial amyotrophic lateral sclerosis with novel A4D SOD1 mutation with late age at onset and rapid progressive course

S. Tsuji, Yuji Takahashi, J. Goto, 2013 .

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis

T. Matsukawa, S. Tsuji, S. Morishita, 2020, neurogenetics.

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis

S. Tsuji, M. Morita, K. Kaida, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Fasciculation potentials in amyotrophic lateral sclerosis and the diagnostic yield of the Awaji algorithm

S. Tsuji, M. Sonoo, Y. Ugawa, 2012, Muscle & nerve.

An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support

S. Tsuji, E. Nanba, S. Murayama, 2020, Neuropathology : official journal of the Japanese Society of Neuropathology.

Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction

S. Tsuji, K. Abe, H. Ishiura, 2019, Internal medicine.

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.

S. Tsuji, M. Nishizawa, Y. Takiyama, 1997, Human molecular genetics.

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

S. Tsuji, Keiko Sato, K. Kashihara, 1995, Neurology.

An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A

S. Tsuji, Takahiko Kobayashi, K. Honke, 1993, Human Genetics.

A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father.

S. Tsuji, T. Ikeuchi, R. Koide, 1996, Journal of neurology, neurosurgery, and psychiatry.

Suprachiasmatic nucleus in a patient with multiple system atrophy with abnormal circadian rhythm of arginine-vasopressin secretion into plasma

S. Tsuji, Hitoshi Takahashi, K. Oyanagi, 1998, Journal of the Neurological Sciences.

Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan

S. Tsuji, N. Hattori, T. Hatano, 2020, Clinical genetics.

Molecular cloning of human growth inhibitory factor cDNA and its down‐regulation in Alzheimer's disease.

S. Tsuji, T. Miyatake, Y. Ihara, 1992, The EMBO journal.

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

S. Tsuji, M. Nangaku, G. Seki, 2018, BMC Medical Genetics.

Parietal Dysgraphia: Characterization of Abnormal Writing Stroke Sequences, Character Formation and Character Recall

Yoshikazu Ugawa, Yoshinobu Onuma, Yasuhisa Sakurai, 2007, Behavioural neurology.

Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan

S. Tsuji, S. Morishita, H. Ishiura, 2017, European journal of neurology.

A 52‐year‐old man with hypohidrosis

S. Tsuji, S. Murayama, J. Shimizu, 2006, Neuropathology : official journal of the Japanese Society of Neuropathology.

Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8

S. Tsuji, H. Ishiura, K. Koh, 2016, Clinical Neurology and Neurosurgery.

Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study

S. Tsuji, S. Morishita, M. Nakagawa, 2017, Journal of the peripheral nervous system : JPNS.

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

S. Tsuji, R. Kuwano, N. Wakamatsu, 2010, BMC Medical Genetics.

琉球型筋萎縮症（HMSN-P）の病因遺伝子

S. Tsuji, H. Ishiura, 2013 .

[Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG].

S. Tsuji, H. Ishiura, 2013, Rinsho shinkeigaku = Clinical neurology.

Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector.

S. Tsuji, E. Ginns, B. Martin, 1988, DNA.

Successful treatment of an unresectable inflammatory myofibroblastic tumor of the frontal bone using a cyclooxygenase-2 inhibitor and methotrexate.

T. Matsukawa, S. Tsuji, J. Shibahara, 2013, Internal medicine.

Successful management of chronic myeloid leukemia with a complication of anti-SRP antibody-associated myopathy

S. Tsuji, M. Kurokawa, Kiyomi Morita, 2017, Leukemia & lymphoma.

Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene

S. Tsuji, I. Hozumi, T. Kimura, 2002, Journal of neurology, neurosurgery, and psychiatry.

Long-term therapeutic efficacy and safety of low-dose tacrolimus (FK506) for myasthenia gravis

S. Tsuji, T. Shimohata, M. Nishizawa, 2006, Journal of the Neurological Sciences.

DNA mutation analysis of Gaucher patients.

S. Tsuji, E. Ginns, E. Sidransky, 1992, American journal of medical genetics.

Cytotoxic T cells react with recombinant Yo protein from a patient with paraneoplastic cerebellar degeneration and anti-Yo antibody

S. Tsuji, Masami Tanaka, Keiko Tanaka, 1998, Journal of the Neurological Sciences.

Cytotoxic T lymphocyte-mediated cell death in paraneoplastic sensory neuronopathy with anti-Hu antibody

S. Tsuji, T. Inuzuka, R. Nakano, 1998, Journal of Neuroimmunology.

Anti-TIF1-γ antibody and cancer-associated myositis

A. Hida, S. Takeuchi, S. Tsuji, 2016, Neurology.

Anti-TIF1-&ggr; antibody and cancer-associated myositis: A clinicohistopathologic study

A. Hida, S. Takeuchi, S. Tsuji, 2016, Neurology.

Selective impairment of On-reading (Chinese-style pronunciation) in alexia with agraphia for kanji due to subcortical hemorrhage in the left posterior middle temporal gyrus

S. Tsuji, Toshihiro Hayashi, Y. Sakurai, 2020, Neurocase.

Patterns of growth inhibitory factor (GIF) and glial fibrillary acidic protein relative level changes differ following left middle cerebral artery occlusion in rats

S. Tsuji, T. Inuzuka, A. Tamura, 1996, Brain Research.

Changes of growth inhibitory factor after stab wounds in rat brain

S. Tsuji, T. Miyatake, T. Inuzuka, 1995, Brain Research.

Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familia Alzheimer's disease with 717Val→Ile mutation

S. Tsuji, T. Miyatake, M. Imagawa, 1993, Neuroscience Letters.

Abnormal glycosphingolipid metabolism in the nervous system of galactosialidosis

S. Tsuji, T. Miyatake, K. Oyanagi, 1990, Journal of the Neurological Sciences.

Familial juvenile parkinsonism

S. Tsuji, H. Takahashi, E. Ohama, 1994, Neurology.

Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1

S. Tsuji, Y. Fukuda, H. Ishiura, 2011, neurogenetics.

Origin of ulnar compound muscle action potential investigated in patients with ulnar neuropathy at the wrist

S. Tsuji, M. Sonoo, Y. Ugawa, 2010, Muscle & nerve.

A CAG trinucleotide repeat expansion and familial schizophrenia

S. Tsuji, K. Ohara, K. Ohara, 2000, Psychiatry Research.

Association study between schizophrenia and dopamine D3 receptor gene polymorphism.

S. Tsuji, Hajime Tanaka, O. Onodera, 1996, American journal of medical genetics.

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?

S. Tsuji, B. Weinshenker, R. Bomprezzi, 2011, Neurology.

Structures of the human and mouse growth inhibitory factor-encoding genes.

S. Tsuji, T. Miyatake, T. Furuya, 1994, Gene.

Cytotoxic T cell activity against the peptide, AYRARALEL, from Yo protein of patients with the HLA A24 or B27 supertype and paraneoplastic cerebellar degeneration

S. Tsuji, J. Kira, A. Kawata, 2001, Journal of the Neurological Sciences.

Cytotoxic T cells against a peptide of Yo protein in patients with paraneoplastic cerebellar degeneration and anti-Yo antibody

S. Tsuji, Masami Tanaka, Keiko Tanaka, 1999, Journal of the Neurological Sciences.

Late presented congenital myasthenic syndrome with novel compound heterozygous CHRNE mutations mimicking seronegative myasthenia gravis

S. Tsuji, K. Abe, J. Mitsui, 2019, Neurology and Clinical Neuroscience.

Tacrolimus-Induced Reversible Cerebral Vasoconstriction Syndrome with Delayed Multi-Segmental Vasoconstriction.

S. Tsuji, Toshihiro Hayashi, M. Hamada, 2017, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

Effects of acidic phospholipids on antiganglioside antibodies in Guillain–Barré syndrome: Role of the disialosyl residue

S. Tsuji, S. Kusunoki, M. Ueda, 2013 .

Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ

N. Hirokawa, Yosuke Tanaka, S. Tsuji, 2001, Cell.

Identification and characterization of newt rad (ras associated with diabetes), a gene specifically expressed in regenerating limb muscle

S. Tsuji, K. Yoshizato, K. Shimizu-Nishikawa, 2001, Developmental dynamics : an official publication of the American Association of Anatomists.

[Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)].

S. Tsuji, Y. Mizuno, H. Matsumine, 1997, Nihon rinsho. Japanese journal of clinical medicine.

Immunoreactivity of growth inhibitory factor in normal rat brain and after stab wounds — an immunocytochemical study using confocal laser scan microscope

S. Tsuji, T. Inuzuka, I. Hozumi, 1996, Brain Research.

An immunologic abnormality common to Bickerstaff's brain stem encephalitis and Fisher's syndrome

S. Tsuji, T. Miyatake, S. Sato, 1993, Journal of the Neurological Sciences.

Epidemiology of X-linked adrenoleukodystrophy in Japan

S. Tsuji, A. Tamakoshi, T. Hashimoto, 2002, Journal of Human Genetics.

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

S. Tsuji, T. Miyatake, O. Onodera, 1995, Clinical Neurology and Neurosurgery.

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

S. Tsuji, O. Onodera, Masami Tanaka, 1995, Clinical Neurology and Neurosurgery.

Passive transfer and active immunization with the recombinant leucine-zipper (Yo) protein as an attempt to establish an animal model of paraneoplastic cerebellar degeneration

S. Tsuji, T. Miyatake, O. Onodera, 1994, Journal of the Neurological Sciences.

α-Synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy

Hitoshi Takahashi, Koichi Wakabayashi, S. Tsuji, 1998, Neuroscience Letters.

Cephalic tetanus presenting as acute vertigo with bilateral vestibulopathy

S. Tsuji, S. Iwasaki, Y. Chihara, 2011, Acta oto-laryngologica.

Aberrant expression of myogenin in inclusion body myositis: Immunohistochemical studies of transcription factors regulating myogenesis in inflammatory myopathies

S. Tsuji, A. Iwata, J. Shimizu, 2012 .

Lymphomatoid granulomatosis involving central nervous system successfully treated with rituximab alone.

S. Tsuji, M. Hamada, S. Kako, 2008, Archives of neurology.

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

N. Hirokawa, S. Tsuji, M. Setou, 2001, Cell.

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

S. Tsuji, H. Shimazaki, H. Ishiura, 2018, Journal of Human Genetics.

Far‐field potentials in hypothenar motor unit number estimation

S. Tsuji, M. Sonoo, Y. Terao, 2013, Muscle & nerve.

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.

S. Tsuji, E. Ginns, B. Martin, 1988, Proceedings of the National Academy of Sciences of the United States of America.

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

S. Tsuji, Masami Tanaka, Keiko Tanaka, 1998, Experimental Neurology.

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.

S. Tsuji, Toshihiro Hayashi, H. Mori, 2015, International journal of clinical and experimental pathology.

The molecular biology of Gaucher disease and the potential for gene therapy.

S. Tsuji, E. Ginns, R. Mulligan, 1986, Cold Spring Harbor symposia on quantitative biology.

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

T. Matsukawa, S. Tsuji, H. Ishiura, 2019, neurogenetics.

Visual Scanning Area is Abnormally Enlarged in Hereditary Pure Cerebellar Ataxia

S. Tsuji, R. Hanajima, Y. Terao, 2015, The Cerebellum.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

M. Nalls, T. Wolfsberg, M. Farrer, 2009, The New England journal of medicine.

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.

S. Tsuji, E. Ginns, P. Choudary, 1987, The New England journal of medicine.

CAG repeat disorder models and human neuropathology: similarities and differences

S. Tsuji, Hitoshi Takahashi, M. Yamada, 2007, Acta Neuropathologica.

Initiation and inhibitory control of saccades with the progression of Parkinson's disease – Changes in three major drives converging on the superior colliculus

Masaya Segawa, Okihide Hikosaka, Yasuo Terao, 2011, Neuropsychologia.

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.

I. Kanazawa, S. Tsuji, M. Miwa, 1997, American journal of human genetics.

IFNβ-1b may severely exacerbate Japanese optic-spinal MS in neuromyelitis optica spectrum

S. Tsuji, Y. Uesaka, T. Shimizu, 2010, Neurology.

Physiological significance of fatty acid elongation system in adrenoleukodystrophy

S. Tsuji, T. Miyatake, Yasuyuki Suzuki, 1991, Journal of the Neurological Sciences.

[Central nervous system histoplasmosis].

S. Tsuji, M. Hamada, 2009, Brain and nerve = Shinkei kenkyu no shinpo.

[Establishment of a pharmacogenomic testing system for the realization of individual pharmacotherapy].

S. Tsuji, H. Ikeda, Y. Yatomi, 2008, Rinsho byori. The Japanese journal of clinical pathology.

Culture-negative brain abscess with Streptococcus intermedius infection with diagnosis established by direct nucleotide sequence analysis of the 16s ribosomal RNA gene.

Tetsuya Hayashi, A. Hida, S. Tsuji, 2012, Internal medicine.

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

S. Tsuji, N. Seki, H. Ichinose, 1994, Nature Genetics.

A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.

S. Tsuji, E. Ginns, S. Yokoyama, 1993, Gene.

Absence of anti-P/Q calcium channel antibody in the sera of patients with anti-Yo antibody-positive paraneoplastic cerebellar degeneration

S. Tsuji, M. Motomura, Y. Nakao, 1997, Neurology.

Mutations for Gaucher disease confer high susceptibility to Parkinson disease.

A. Toyoda, S. Tsuji, N. Hattori, 2009, Archives of neurology.

Partial duplication of DHH causes minifascicular neuropathy

S. Tsuji, G. Tate, Y. Shiio, 2017, Annals of clinical and translational neurology.

Molecular Biology of Gaucher Disease: Therapeutic Strategies Utilizing Recombinant DNA Technology

S. Tsuji, E. Ginns, B. Martin, 1988 .

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

S. Tsuji, N. Wakamatsu, D. Mahuran, 1992, The Journal of clinical investigation.

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.

S. Tsuji, H. Kitagawa, S. Kusunoki, 2013, Biochimica et biophysica acta.

Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1

S. Tsuji, M. Sonoo, K. Matsumura, 2016, Neuromuscular Disorders.

Familial amyloid polyneuropathy diagnosed by minor salivary gland biopsy

S. Tsuji, Takuya Sasaki, T. Morikawa, 2018 .

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

Y. Itoyama, S. Tsuji, G. Sobue, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2 B

Y. Itoyama, S. Tsuji, G. Sobue, 2012 .

Fatty acid elongation activity in fibroblasts from patients with adrenoleukodystrophy (ALD).

S. Tsuji, T. Miyatake, A. Suzuki, 1984, Journal of biochemistry.

Increased synthesis of hexacosanoic acid (C23:0) by cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).

S. Tsuji, T. Miyatake, T. Ariga, 1981, Journal of biochemistry.

Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy

T. Matsukawa, S. Tsuji, R. Hanajima, 2010, Clinical Neurology and Neurosurgery.

[A case of myasthenia gravis complicated by cyclic thrombocytopenia].

S. Tsuji, T. Miyatake, S. Igarashi, 1992, Rinsho shinkeigaku = Clinical neurology.

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial

Y. Itoyama, S. Tsuji, G. Sobue, 2017, The Lancet Neurology.

Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells

Kortaro Tanaka, S. Tsuji, Masaki Tanaka, 2019, Scientific Reports.

Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing

K. Kasai, S. Tsuji, Y. Kawakubo, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in KCND3 cause spinocerebellar ataxia type 22

P. Tsai, Jun Z. Li, Yi-Chung Lee, 2012, Annals of neurology.

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

Yuji Takahashi, Jun Goto, Shinichi Morishita, 2013, Bioinform..

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

S. Tsuji, K. Arima, Tadashi Yamamoto, 2009, The New England journal of medicine.

Transmission disequilibrium test and haplotype analysis of the NOTCH4 gene in Japanese patients with schizophrenia

S. Tsuji, Toshihisa Tanaka, T. Someya, 2004, Psychiatry and clinical neurosciences.

Initial genome‐wide scan for linkage with schizophrenia in the Japanese schizophrenia sib‐pair linkage group (JSSLG) families

S. Tsuji, T. Shinkai, K. Yara, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan

Kortaro Tanaka, S. Tsuji, G. Sobue, 2014, Neurology.

A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis-

T. Matsukawa, S. Tsuji, Y. Shiio, 2020, Journal of the Neurological Sciences.

Dentatorubral-pallidoluysian atrophy (DRPLA).

S. Tsuji, 2020, Journal of neural transmission. Supplementum.

Landscape of CpG methylation of individual repetitive elements

Kazuki Ichikawa, Yuji Takahashi, Yuta Suzuki, 2015 .

Comprehensive silencing of target-sharing microRNAs is a mechanism for SIRT1 overexpression in cancer

S. Tsuji, C. Sasakawa, M. Tanabe, 2014, RNA biology.

Interference of CREB‐dependent transcriptional activation by expanded polyglutamine stretches – augmentation of transcriptional activation as a potential therapeutic strategy for polyglutamine diseases

S. Tsuji, T. Shimohata, M. Shimohata, 2005, Journal of neurochemistry.

The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy

H. Okano, S. Tsuji, S. Okamoto, 2018, Scientific Reports.

Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese.

I. Kanazawa, S. Tsuji, T. Asada, 2009, Genomics.

Genetic association study on in and around the APOE in late-onset Alzheimer disease

S. Tsuji, T. Asada, H. Arai, 2009 .

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

S. Tsuji, N. Matsumoto, M. Shiina, 2014, Scientific Reports.

An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family

Kazuko Hasegawa, Hisayuki Kowa, Manabu Funayama, 2005, Annals of neurology.

Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.

B. Migeon, S. Tsuji, E. Ginns, 1987, European journal of biochemistry.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

S. Sugano, S. Tsuji, T. Yuasa, 2001, Nature Genetics.

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

S. Tsuji, M. Pandolfo, R. Margolis, 2002, Archives of neurology.

Trinucleotide Repeats in 202 Families With Ataxia

J. Vale, J. Sequeiros, S. Tsuji, 2002 .

A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.

M. Pericak-Vance, G. Schellenberg, K. Tashiro, 1998, Genomics.

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

S. Tsuji, Hitoshi Takahashi, H. Takahashi, 1996, Nature Genetics.

Genome-wide association database developed in the Japanese Integrated Database Project

Katsushi Tokunaga, Asako Koike, Nao Nishida, 2009, Journal of Human Genetics.

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

S. Tsuji, Hitoshi Takahashi, S. Hayashi, 2004, Annals of Neurology.

A.04 The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force

H. Mitoma, J. Schmahmann, S. Tsuji, 2019, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

S. Tsuji, T. Miyatake, N. Wakamatsu, 1992, The Journal of biological chemistry.

Mutational Analysis of BRCA1 Gene in Ovarian and Breast‐ovarian Cancer Families in Japan

S. Tsuji, M. Hatae, Kenichi Tanaka, 1997, Japanese journal of cancer research : Gann.

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1

S. Tsuji, F. Obata, K. Hasegawa, 2002, Annals of neurology.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Robert H. Brown, R. Petersen, B. Boeve, 2016, Nature Communications.

A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.

Yusuke Nakamura, Y. Ohnishi, Toshihiro Tanaka, 2011, Human molecular genetics.

A mutation database for amyotrophic lateral sclerosis

Asako Koike, Yoko Fukuda, Yuji Takahashi, 2010, Human mutation.

SNP Haplotype Mapping in a Small ALS Family

S. Tsuji, Michael B. Miller, Y. Fukuda, 2009, PloS one.

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

S. Tsuji, S. Morishita, M. Yamaguchi, 2018, Brain : a journal of neurology.

Alzheimer's disease as a polygenic disease

S. Tsuji, K. Okuizumi, 1998 .

Aβ1–40 but not Aβ1–42 levels in cortex correlate with apolipoprotein E ϵ4 allele dosage in sporadic Alzheimer's disease

S. Tsuji, M. Gearing, S. Mirra, 1997, Brain Research.

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Yuko Saito, Mari Yoshida, Fumitoshi Ishino, 2009, American journal of human genetics.

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

S. Tsuji, E. Ginns, P. Choudary, 1985, Proceedings of the National Academy of Sciences of the United States of America.

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.

S. Tsuji, M. Sekine, Y. Hirai, 2001, Clinical cancer research : an official journal of the American Association for Cancer Research.

Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22-p25.

S. Tsuji, K. Tanaka, M. Sekine, 2001, Human molecular genetics.

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

Mitsuaki Suzuki, S. Tsuji, M. Sekine, 2001 .

Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations

T. Matsukawa, S. Tsuji, H. Ishiura, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

CpG Demethylation Enhances Alpha-Synuclein Expression and Affects the Pathogenesis of Parkinson's Disease

S. Tsuji, A. Tamaoka, H. Date, 2010, PloS one.

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

T. Matsukawa, S. Tsuji, N. Shimozawa, 2010, neurogenetics.

Host MICA Polymorphism as a Potential Predictive Marker in Response to Chemotherapy for Colorectal Liver Metastases

J. Shindoh, S. Tsuji, M. Fukayama, 2018, Digestive Diseases.

Involvement of the cerebral cortex and autonomic ganglia in Machado-Joseph disease

S. Tsuji, S. Hayashi, M. Yamada, 2001, Acta Neuropathologica.

The gene for Machado–Joseph disease maps to human chromosome 14q

Y. Kagawa, O. Onodera, I. Kanazawa, 1993, Nature Genetics.

Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye

S. Tsuji, N. Ishida, S. Hanai, 2013, PloS one.

The 8,344 mutation in mitochondrial DNA: A comparison between the proportion of mutant DNA and clinico-pathologic findings

S. Tsuji, R. Sakuta, I. Nonaka, 1995, Neuromuscular Disorders.

Earthquakes and neurological care

S. Tsuji, F. Mateen, 2012, European journal of neurology.

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

S. Pulst, D. Timmann, S. Tezenas du Montcel, 2014, Brain : a journal of neurology.

Rapid diagnosis Of tuberculous meningitis by polymerase chain reaction (PCR)

S. Tsuji, T. Miyatake, K. Kaneko, 1990, Neurology.

Clinical features of ovarian cancer in Japanese women with germ-line mutations of BRCA1.

T Takahashi, S. Tsuji, M. Hatae, 1998, Clinical cancer research : an official journal of the American Association for Cancer Research.

Increased gene dosage of myelin protein zero causes Charcot‐Marie‐Tooth disease

S. Tsuji, J. Inazawa, H. Ishiura, 2012, Annals of neurology.

[An autopsy case of systemic vasculitis associated with hepatitis C virus-related mixed cryoglobulinemia presenting severe peripheral neuropathy].

S. Tsuji, A. Kakita, Hitoshi Takahashi, 2004, Rinsho shinkeigaku = Clinical neurology.

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia

T. Matsukawa, S. Tsuji, Toshihiro Hayashi, 2018, The Cerebellum.

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

H. Morita, Y. Kuroiwa, S. Tsuji, 2011, American journal of human genetics.

Appropriate data cleaning methods for genome-wide association study

S. Tsuji, A. Koike, A. Fujimoto, 2008, Journal of Human Genetics.

Sporadic ataxias in Japan – a population-based epidemiological study

Osamu Onodera, Masatoyo Nishizawa, S. Tsuji, 2008, The Cerebellum.

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype

T. Matsukawa, S. Tsuji, S. Morishita, 2017, Journal of the Neurological Sciences.

S. Hamada, S. Tsuji, H. Shimazaki, 2019, Molecular genetics & genomic medicine.

Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.

S. Tsuji, T. Miyatake, H. Yoshino, 1991, American journal of human genetics.

Cerebral microbleeding in varicella-zoster viral meningitis: An early sign of vasculopathy?

S. Tsuji, A. Iwata, Y. Shirota, 2014, Neurology.

Elucidation of Molecular Mechanisms of Neurological Diseases Based on Personal Genome Analyses

Shoji Tsuji, S. Tsuji, 2011 .

Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature

T. Matsukawa, S. Tsuji, Toshihiro Hayashi, 2021, Journal of Molecular Neuroscience.

Corticospinal tract and corticobulbar tract dysfunction in ALS: combined study using transcranial magnetic stimulation and diffusion tensor tractography

S. Aoki, S. Tsuji, Y. Masutani, 2005 .

[A case of complicated form of hereditary spastic paraplegia associated with hypoplasia of the corpus callosum and cataracta].

S. Tsuji, Y. Kobayashi, M. Tanaka, 1995, Rinsho shinkeigaku = Clinical neurology.

MERRF/MELAS overlap syndrome associated with 3243 tRNALeu(UUR) mutation of mitochondrial DNA

S. Tsuji, H. Shibuya, Y. Onishi, 1998 .

Detection and quantification of point mutations in mitochondrial DNA by PCR.

S. Tsuji, G. Attardi, M. Yoneda, 1996, Methods in enzymology.

Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients.

S. Tsuji, I. Nonaka, M. Yoneda, 1991, Biochemical and biophysical research communications.

A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.

S. Tsuji, S. Horai, M. Yoneda, 1990, Biochemistry international.

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

S. Tsuji, K. Bulayeva, S. Limborska, 1996, Brain : a journal of neurology.

Machado-Joseph disease in four Chinese pedigrees

J. Weissenbach, S. Tsuji, Y. Takiyama, 1997, Neurology.

Rapid diagnosis of tuberculous meningitis by polymerase chain reaction (PCR).

S. Tsuji, T. Miyatake, K. Kaneko, 1990, Neurology.

Pigmentary macular dystrophy in spinocerebellar ataxia type 1

S. Tsuji, K. Matsumura, T. Shimizu, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

Dominant mutations in RP1L1 are responsible for occult macular dystrophy.

S. Tsuji, K. Tsunoda, Makoto Nakamura, 2010, American journal of human genetics.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Tommaso Pippucci, Josemir W. Sander, Edouard Hirsch, 2019, Nature Communications.

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.

J. Weissenbach, Y. Agid, R. Sherrington, 1996, Human molecular genetics.

Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)

S. Tsuji, E. Uyama, Hajime Tanaka, 2001, Journal of Human Genetics.

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

S. Tsuji, I. Nonaka, E. Uyama, 1997, Annals of neurology.

Chronic cerebral hypoperfusion shifts the equilibrium of amyloid β oligomers to aggregation-prone species with higher molecular weight

S. Tsuji, T. Iwatsubo, A. Iwata, 2019, Scientific Reports.

Elevated Serum Uric Acid Levels Are Related to Cognitive Deterioration in an Elderly Japanese Population

S. Tsuji, A. Iwata, T. Yamazaki, 2016, Dementia and Geriatric Cognitive Disorders Extra.

BIN1 regulates BACE1 intracellular trafficking and amyloid-β production.

S. Tsuji, G. Prendergast, T. Iwatsubo, 2016, Human molecular genetics.

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene

S. Tsuji, K. Tsunoda, H. Sawamura, 2020, Investigative ophthalmology & visual science.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

T. Matsukawa, S. Tsuji, Jun Shinmi, 2019, Nature Genetics.

Are Responsible for Occult Macular Dystrophy

S. Tsuji, K. Tsunoda, Makoto Nakamura, 2010 .

HTLV‐I‐like sequence in MS

S. Tsuji, T. Miyatake, K. Kaneko, 1995, Acta neurologica Scandinavica.

SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia

S. Tsuji, H. Sasaki, I. Yabe, 2017, Journal of Human Genetics.

Variant between CPT1B and CHKB associated with susceptibility to narcolepsy

Emmanuel Mignot, Katsushi Tokunaga, Shinichi Morishita, 2008, Nature Genetics.

Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology

A. Hida, S. Tsuji, K. Kaida, 2017, Neurology.

HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data

S. Tsuji, T. Kanda, M. Hirata, 2021, Scientific reports.

Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy

O. Onodera, S. Tsuji, Y. Ishikawa, 1992, Neurology.

FAT10 Protein Binds to Polyglutamine Proteins and Modulates Their Solubility*

S. Tsuji, A. Iwata, H. Kowa, 2011, The Journal of Biological Chemistry.

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

Y. Fukushima, N. Niikawa, Y. Nakamura, 1999, American journal of human genetics.

Toxicity of expanded polyglutamine‐domain proteins in Escherichia coli

J. Vance, S. Tsuji, W. Strittmatter, 1996, FEBS letters.

Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy

S. Tsuji, Kayoko Saito, T. Toda, 1997, Human Genetics.

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.

H. Zoghbi, S. Tsuji, A. Durr, 1998, American journal of human genetics.

Lack of association between human leukocyte antigens and anti-Hu syndrome in patients with small-cell lung cancer.

S. Tsuji, T. Inuzuka, A. Suzumura, 1999, Neurology.

Triad stimulation frequency for cortical facilitation in cortical myoclonus

S. Tsuji, R. Hanajima, Y. Terao, 2011, Movement disorders : official journal of the Movement Disorder Society.

Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.

S. Tsuji, M. Yamada, H. Takahashi, 1996, American journal of human genetics.

Neuron-specific analysis of histone modifications with post-mortem brains

S. Tsuji, S. Murayama, A. Tamaoka, 2020, Scientific Reports.

Hypoglossal Nerve Palsy as a Cause of Severe Dysphagia along with the Oropharyngeal Stenosis due to Occipitocervical Kyphosis

Sakae Tanaka, S. Tsuji, Toshihiro Hayashi, 2019, Case reports in orthopedics.

Assessing Cell-to-Cell DNA Methylation Variability on Individual Long Reads

S. Tsuji, S. Morishita, H. Takeda, 2016, Scientific Reports.

A novel monoclonal antibody which reacts with a high molecular weight neuronal cytoplasmic protein and myelin basic protein (MBP) in a patient with macroglobulinemia

S. Tsuji, J. Kira, T. Inuzuka, 1997, Journal of Neurological Sciences.

Widespread occurrence of intranuclear atrophin‐1 accumulation in the central nervous system neurons of patients with dentatorubral‐pallidoluysian atrophy

C. Ross, S. Tsuji, Hitoshi Takahashi, 2001, Annals of neurology.

Dendritic cells presenting pyruvate kinase M1/M2 isozyme peptide can induce experimental allergic myositis in BALB/c mice

S. Tsuji, I. Kawachi, Masami Tanaka, 2001, Journal of Neuroimmunology.

Polymyositis associated with focal mesangial proliferative glomerulonephritis with depositions of immune complexes

S. Tsuji, H. Uozaki, K. Kawahata, 2006, Clinical Rheumatology.

Genomic aspects of sporadic neurodegenerative diseases.

S. Tsuji, J. Mitsui, 2014, Biochemical and biophysical research communications.

Genotype–phenotype correlations in alternating hemiplegia of childhood

Akihiro Yasuhara, Hirokazu Oguni, Bo Zhang, 2014, Neurology.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2013, Human mutation.

Atypical parkinsonism caused by Pro105Leu mutation of prion protein

T. Matsukawa, S. Tsuji, G. Oyama, 2016, Neurology: Genetics.

Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: Clinical presentations and analysis of genetic and molecular pathogenesis

A. Hida, S. Tsuji, A. Iwata, 2010, Journal of the Neurological Sciences.

A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique.

K. Lindblad, J. Rapoport, S. Tsuji, 1998, American journal of human genetics.

ApoE–ε4 and early–onset Alzheimer's

Ichiro Kanazawa, Osamu Onodera, Hitoshi Takahashi, 1994, Nature Genetics.

Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients

S. Tsuji, J. Mosser, T. Miyatake, 1995 .

Treatment of Hypophonia With Collagen Vocal Cord Augmentation in Patients With Parkinsonism

T. Hashimoto, S. Tsuji, S. Ikeda, 2003 .

[Alien hand sign observed at the initial stage of a case of Creutzfeldt-Jakob disease].

S. Tsuji, J. Goto, Y. Shirota, 2009, Rinsho shinkeigaku = Clinical neurology.

Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.

S. Tsuji, K. Kaida, Hajime Tanaka, 1999, Archives of neurology.

Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells

H. Ueda, S. Tsuji, S. Morishita, 2018, Scientific Reports.

Unstable expansion of triplet repeats as a new disease mechanism for neurodegenerative diseases

S. Tsuji, 1996, Japanese Journal of Human Genetics.

Motor neuron disease with multi-system involvement presenting as tetraparesis, ophthalmoplegia and sensori-autonomic dysfunction

M. Yamada, S. Tsuji, T. Yuasa, 2004, Acta Neuropathologica.

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy

N. Kenmochi, S. Tsuji, T. Uechi, 2016, Journal of Human Genetics.

Evaluation of corticospinal tracts in ALS with diffusion tensor MRI and brainstem stimulation

I. Kanazawa, O. Abe, S. Aoki, 2008, Neurology.

Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.

A A Schäffer, Y Mizuno, Y Yamamura, 1997, American journal of human genetics.

Dementia and delirium in 4 patients with Machado-Joseph disease.

S. Tsuji, Hitoshi Takahashi, M. Yamada, 2002, Archives of neurology.

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

S. Tsuji, K. Haginoya, H. Ishiura, 2018, Journal of Human Genetics.

Autosomal linkage analysis of a Japanese single multiplex schizophrenia pedigree reveals two candidate loci on chromosomes 4q and 3q

S. Tsuji, T. Arinami, T. Someya, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Lack of association between dopamine D4 receptor gene and schizophrenia.

S. Tsuji, O. Onodera, S. Igarashi, 1995, American journal of medical genetics.

Postural tremor in X‐linked spinal and bulbar muscular atrophy

S. Tsuji, R. Hanajima, M. Hamada, 2009, Movement disorders : official journal of the Movement Disorder Society.

Intranuclear Degradation of Polyglutamine Aggregates by the Ubiquitin-Proteasome System*

S. Tsuji, N. Nukina, Takahiro Suzuki, 2009, Journal of Biological Chemistry.

Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val→Ile mutation in the amyloid precursor protein gene

Toru Shimizu, A. Roses, P. Lantos, 1993, Neurobiology of Aging.

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.

S. Tsuji, T. Bird, S. Kikuchi, 2003, Archives of neurology.

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

S. Tsuji, M. Nishizawa, Y. Takiyama, 2000, Annals of neurology.

a Chromosome 6q-Linked Parkinsonism

S. Tsuji, Y. Mizuno, H. Matsumine, 1998 .

A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan

S. Tsuji, G. Sobue, K. Nakashima, 2014, Orphanet Journal of Rare Diseases.

Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice

R. Shin, C. Ross, M. Katsuki, 2008, Human molecular genetics.

Scope of Trinucleotide Repeat Disorders

S. Tsuji, 2001 .

Nuclear Accumulation of Truncated Atrophin-1 Fragments in a Transgenic Mouse Model of DRPLA

D. Borchelt, D. Price, C. Ross, 1999, Neuron.

Profound downregulation of the RNA editing enzyme ADAR2 in ALS spinal motor neurons

S. Tsuji, A. Kakita, Hitoshi Takahashi, 2012, Neurobiology of Disease.

Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription

I. Kanazawa, S. Tsuji, Hitoshi Takahashi, 2000, Nature Genetics.

Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation.

S. Tsuji, T. Ikeuchi, Hajime Tanaka, 1995, Seminars in cell biology.

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

S. Tsuji, Hitoshi Takahashi, K. Takao, 2012, Neurobiology of Disease.

Organization of the human synphilin-1 gene, a candidate for Parkinson's disease

Christopher A. Ross, Roxann Ashworth, Hitoshi Takahashi, 2000, Mammalian Genome.

Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy model.

M. Fukunaga, S. Tsuji, A. Kakita, 2021, The Journal of clinical investigation.

Synphilin‐1 is present in Lewy bodies in Parkinson's disease

C A Ross, C. Ross, S. Tsuji, 2000, Annals of neurology.

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5

A. Hida, S. Aoki, T. Matsukawa, 2011, neurogenetics.

An open trial of long‐term testosterone suppression in spinal and bulbar muscular atrophy

S. Tsuji, T. Maéno, M. Taguri, 2013, Muscle & nerve.

Autotaxin enzyme immunoassay in human cerebrospinal fluid samples.

S. Tsuji, N. Saito, M. Kurokawa, 2009, Clinica chimica acta; international journal of clinical chemistry.

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

S. Tsuji, K. Kaida, S. Kuzuhara, 1999, Archives of neurology.

Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A

S. Tsuji, Y. Hayashi, I. Hozumi, 1997, Neurology.

[A case of asymmetric demyelinating neuropathy in a patient with chronic graft-versus-host disease].

S. Tsuji, H. Matsumoto, Y. Ugawa, 2005, Rinsho shinkeigaku = Clinical neurology.

Authors' response to "Compound heterozygous Fukutin mutation-related non-compaction" by Finsterer and Zarrouk-Mahjoub.

S. Tsuji, I. Komuro, H. Morita, 2017, International journal of cardiology.

Fukutin gene mutations that cause left ventricular noncompaction.

S. Tsuji, D. Nitta, I. Komuro, 2016, International journal of cardiology.

Adult‐onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4

T. Matsukawa, S. Tsuji, M. Sonoo, 2015, Clinical genetics.

Alpha-synuclein degradation by serine protease neurosin: implication for pathogenesis of synucleinopathies.

Tsutomu Hashikawa, Ichiro Kanazawa, Atsushi Iwata, 2003, Human molecular genetics.

[Familial myopathy associated with tubular aggregates--report of two siblings].

S. Tsuji, T. Ikeuchi, T. Anezaki, 1995, Rinsho shinkeigaku = Clinical neurology.

Deterioration of horizontal saccades in progressive supranuclear palsy

Masaya Segawa, Yasuo Terao, Yoshikazu Ugawa, 2013, Clinical Neurophysiology.

SCA17 homozygote showing Huntington's disease‐like phenotype

Osamu Onodera, Hitoshi Takahashi, S. Tsuji, 2004, Annals of neurology.

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome

S. Tsuji, S. Morishita, A. Shimizu, 2017, Pediatric Nephrology.

[Molecular genetic analysis for myoclonus epilepsy associated with ragged-red fibers (MERRF)].

S. Tsuji, M. Yoneda, K. Tanaka, 1993, Nihon rinsho. Japanese journal of clinical medicine.

Immunocytochemical localization of synphilin-1, an α-synuclein-associated protein, in neurodegenerative disorders

Christopher A. Ross, Hitoshi Takahashi, Koichi Wakabayashi, 2002, Acta Neuropathologica.

The beta APP717 Alzheimer mutation increases the percentage of plasma amyloid-beta protein ending at A beta 42(43)

S. Tsuji, T. Iwatsubo, M. Imagawa, 1997, Neurology.

Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis

Fumiaki Tanaka, Gen Sobue, Akiko Tamakoshi, 2009, Journal of the Neurological Sciences.

DNA vaccination may open up a new avenue for treatment of Alzheimer disease.

S. Tsuji, 2004, Archives of neurology.

Association of subclinical carotid atherosclerosis with immediate memory and other cognitive functions

S. Tsuji, Toru Suzuki, A. Iwata, 2018, Geriatrics & gerontology international.

Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

S. Tsuji, J. Kira, S. Morishita, 2016, Annals of neurology.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

S. Tsuji, S. Morishita, Y. Tsurusaki, 2018, European journal of medical genetics.

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

S. Tsuji, H. Onishi, S. Morishita, 2019, Parkinsonism & related disorders.

Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines

H. Okano, S. Tsuji, R. Hashimoto, 2016, Molecular Brain.

Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene.

S. Tsuji, Hajime Tanaka, H. Tanaka, 1997, Genomics.

Determination of editors at the novel A-to-I editing positions

S. Tsuji, N. Suzuki, Y. Nishimoto, 2008, Neuroscience Research.

Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease

I. Kanazawa, S. Tsuji, Hitoshi Takahashi, 1995, Nature Genetics.

Churg-Strauss syndrome and the leukotriene receptor antagonist pranlukast

S. Tsuji, O. Onodera, Keiko Tanaka, 2005, Clinical Rheumatology.

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity

M. Pericak-Vance, J. Vance, S. Tsuji, 1997, Neurogenetics.

Simultaneous detection of reduced and oxidized forms of coenzyme Q10 in human cerebral spinal fluid as a potential marker of oxidative stress

S. Tsuji, J. Mitsui, Yorihiro Yamamoto, 2018, Journal of clinical biochemistry and nutrition.

Lack of association of very low density lipoprotein receptor gene polymorphism with caucasian Alzheimer's disease

M. Pericak-Vance, A. Roses, S. Tsuji, 1996, Annals of neurology.

Modulation of error-sensitivity during a prism adaptation task in people with cerebellar degeneration.

R. Shadmehr, S. Kitazawa, S. Tsuji, 2015, Journal of neurophysiology.

Regional specificity of alterations in NGF, BDNF and NT‐3 levels in Alzheimer's disease

S. Tsuji, Hitoshi Takahashi, H. Nawa, 1996, Neuroreport.

Neck weakness is a potent prognostic factor in sporadic amyotrophic lateral sclerosis patients

S. Tsuji, G. Sobue, M. Morita, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation

S. Tsuji, S. Morishita, Y. Ando, 2015, Neuropathology and applied neurobiology.

The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.

S. Tsuji, M. Nishizawa, H. Date, 2004, Biochemical and biophysical research communications.

Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia

S. Tsuji, Yuji Takahashi, J. Goto, 2009, neurogenetics.

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.

S. Tsuji, M. Nishizawa, Hajime Tanaka, 1996, Human molecular genetics.

Molecular cloning of murine homologue dentatorubral-pallidoluysian atrophy (DRPLA) cDNA: strong conservation of a polymorphic CAG repeat in the murine gene.

S. Tsuji, R. Kominami, T. Ikeuchi, 1997, Genomics.

Spinocerebellar ataxia type 6: CAG repeat expansion in α1a voltage‐dependent calcium channel gene and clinical variations in japanese population

S. Tsuji, Hitoshi Takahashi, H. Tsukagoshi, 1997 .

Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28.

S. Tsuji, T. Miyatake, K. Kaneko, 1992, Human molecular genetics.

A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report

S. Tsuji, M. Shoji, K. Okamoto, 1998, Journal of Neurological Sciences.

Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer

S. Tsuji, Y. Fukuda, H. Ishiura, 2010, Journal of Human Genetics.

[MRI findings of posterior spinal artery syndrome--report of a case].

S. Tsuji, H. Okumura, O. Onodera, 1994, Rinsho shinkeigaku = Clinical neurology.

Quantitative evaluation of brainstem involvement in multiple system atrophy by diffusion-weighted MR imaging

Osamu Onodera, Kenshi Terajima, Masatoyo Nishizawa, 2004, Journal of Neurology.

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

S. Tsuji, T. Yuasa, K. Tashiro, 1998, Journal of the Neurological Sciences.

Structural Basis and Genotype–Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance

Keith A. Boroevich, T. Tsunoda, S. Tsuji, 2017, Diabetes.

Multiple system atrophy variant with severe hippocampal pathology

S. Tsuji, J. Mitsui, M. Katsuno, 2021, Brain pathology.

Cyclosporine A-associated fatal central nervous system angiopathy in a bone marrow transplant recipient: an autopsy case

S. Tsuji, M. Yamada, H. Takahashi, 2000, Acta Neuropathologica.

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

T. Matsukawa, S. Tsuji, S. Morishita, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

I. Kanazawa, S. Tsuji, Toshihiro Hayashi, 2014, Journal of Human Genetics.

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

I. Kanazawa, S. Tsuji, Toshihiro Hayashi, 2014, Journal of Human Genetics.

JASPAC: Japan Spastic Paraplegia Research Consortium

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Brain sciences.

Cancer association as a risk factor for anti-HMGCR antibody-positive myopathy

A. Hida, S. Tsuji, M. Inoue, 2016, Neurology: Neuroimmunology & Neuroinflammation.

Confirmatory double-blind, parallel-group, placebo-controlled study of efficacy and safety of edaravone (MCI-186) in amyotrophic lateral sclerosis patients

Yasuto Itoyama, Koji Abe, Chikuma Hamada, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

S. Lehéricy, D. Timmann, S. Tsuji, 2016, Movement disorders clinical practice.

X‐linked nonprogressive congenital cerebellar hypoplasia: Clinical description and mapping to chromosome Xq

S. Tsuji, Hajime Tanaka, S. Illarioshkin, 1996, Annals of neurology.

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

S. Tsuji, H. Ishiura, Y. Takiyama, 2021, BMC Neurology.

A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient

S. Tsuji, I. Nishino, H. Ishiura, 2017, Internal medicine.

SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data

Yuji Takahashi, Jun Goto, Yoko Fukuda, 2009, BMC Bioinformatics.

Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain

Yasuko Hayashi, Takeshi Ikeuchi, Akiyoshi Kakita, 1998, Acta Neuropathologica.

An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy

S. Tsuji, H. Mori, Y. Sakurai, 2018, Internal medicine.

Stability of messenger RNA in postmortem human brains and construction of human brain cDNA libraries

S. Tsuji, K. Sakimura, T. Miyatake, 2008, Journal of Molecular Neuroscience.

Expression of growth inhibitory factor (GIF) in normal and injured rat brains

S. Tsuji, T. Miyatake, M. Tohyama, 1995, Neurochemistry International.

Molecular clearance of ataxin‐3 is regulated by a mammalian E4

H. Ishimoto, M. Kitagawa, S. Tsuji, 2004, The EMBO journal.

Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy

O. Onodera, H. Beppu, S. Tsuji, 1997, Neurology.

Successful use of zonisamide for central poststroke pain.

S. Tsuji, Yuji Takahashi, Kouichiro Hashimoto, 2004, The journal of pain : official journal of the American Pain Society.

Effect of subthalamic nucleus deep brain stimulation on visual scanning

Y. Shimo, S. Tsuji, Takuya Sasaki, 2018, Clinical Neurophysiology.

Unilateral opercular infarction presenting with Foix-Chavany-Marie Syndrome.

S. Tsuji, A. Iwata, R. Ohtomo, 2014, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

Huntington's disease–like 2 (HDL2) in North America and Japan

J. Mysore, M. MacDonald, M. Hayden, 2004, Annals of neurology.

Slowly Progressive Pure Word Deafness

M. Otsuki, S. Tsuji, Y. Soma, 1998, European Neurology.

Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial

S. Tsuji, G. Sobue, M. Morita, 2010, The Lancet Neurology.

Increased facilitation of the primary motor cortex in de novo Parkinson's disease.

S. Tsuji, R. Hanajima, Y. Terao, 2019, Parkinsonism & Related Disorders.

Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family

S. Tsuji, S. Hayashi, H. Takahashi, 1998, Acta Neuropathologica.

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

S. Tsuji, H. Ishiura, Shuang Wang, 2018, Brain : a journal of neurology.

Recovered recall memory after decompression of the fornix by surgical removal of pineal tumor

K. Kawai, S. Tsuji, Toshihiro Hayashi, 2016, Neurology.

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

T. Matsukawa, S. Tsuji, S. Morishita, 2017, Neurology: Genetics.

Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism

S. Tsuji, J. Goto, Y. Ichikawa, 2019, Human Genome Variation.

Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families.

I. Kanazawa, S. Tsuji, H. Mizusawa, 1996, Brain : a journal of neurology.

Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families.

S. Tsuji, B. Tang, Y. Takiyama, 2001, Archives of neurology.

Progressive apraxic agraphia with micrographia presenting as corticobasal syndrome showing extensive Pittsburgh compound B uptake

S. Tsuji, K. Ishii, Y. Sakurai, 2013, Journal of Neurology.

Induced Loss of ADAR2 Engenders Slow Death of Motor Neurons from Q/R Site-Unedited GluR2

P. Seeburg, S. Tsuji, M. Higuchi, 2010, The Journal of Neuroscience.

A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation.

S. Tsuji, R. Hanajima, J. Nakajima, 2010, Internal medicine.

Spinocerebellar ataxia type 15

Elsdon Storey, S. Tsuji, E. Storey, 2008, The Cerebellum.

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

S. Tsuji, M. Yoshita, H. Ishiura, 2020, Neurology: Genetics.

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium

S. Tsuji, A. Schaffer, Y. Mizuno, 1998, Journal of Human Genetics.

Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis.

S. Tsuji, T. Inuzuka, T. Shimohata, 1999, Human molecular genetics.

Construction of spinal cord cDNA library and application for subtractive cloning of spinal cord-specific cDNAs

S. Tsuji, T. Miyatake, K. Oyanagi, 2008, Journal of Molecular Neuroscience.

Double-pulse magnetic brain stem stimulation: mimicking successive descending volleys.

S. Tsuji, R. Hanajima, M. Hamada, 2008, Journal of neurophysiology.

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep

N. Arai, A. Hida, S. Takeuchi, 2012, Journal of Neurology.

[Anti-Ma2-associated encephalitis and paraneoplastic limbic encephalitis].

S. Tsuji, Tomotaka Yamamoto, 2010, Brain and nerve = Shinkei kenkyu no shinpo.

Nitric oxide production by neutrophils stimulated by Shiga-toxin in children

S. Tsuji, T. Shimo, K. Kaneko, 2010 .

Isolated seizure as initial presentation of GABAA receptor antibody-associated encephalitis

S. Tsuji, Takuya Sasaki, Y. Terao, 2020, Journal of the Neurological Sciences.

Underediting of GluR2 mRNA, a neuronal death inducing molecular change in sporadic ALS, does not occur in motor neurons in ALS1 or SBMA

S. Tsuji, G. Sobue, Y. Kawahara, 2006, Neuroscience Research.

Time course of polyglutamine aggregate body formation and cell death: Enhanced growth in nucleus and an interval for cell death

S. Tsuji, T. Shimohata, O. Onodera, 2002, Journal of neuroscience research.

Monitoring daily life activity shows less activity among female dementia patients

S. Tsuji, A. Iwata, H. Kowa, 2013 .

Dentatorubral‐pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat

Osamu Onodera, Hitoshi Takahashi, Takeshi Ikeuchi, 1995, Annals of neurology.

Assignment of the human ST2 gene to chromosome 2 at q11.2

S. Tominaga, S. Tsuji, J. Inazawa, 1996, Human Genetics.

Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts.

S. Tsuji, E. Ginns, C. Cepko, 1986, Molecular biology & medicine.

Progressive supranuclear palsy with wall-eyed bilateral internuclear ophthalmoplegia syndrome.

S. Tsuji, H. Matsumoto, J. Goto, 2008, Archives of neurology.

Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography

Y. Yonekura, S. Tsuji, Y. Onishi, 1996, European Journal of Nuclear Medicine.

Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy.

S. Tsuji, Hitoshi Takahashi, M. Yamada, 2006, Brain : a journal of neurology.

Tuberculous meningitis

S. Tsuji, T. Miyatake, K. Kaneko, 1995, Neurology.

[Severely abnormal electroencephalogram in two patients who were treated with cefepime].

S. Tsuji, R. Hanajima, Y. Terao, 2012, Rinsho shinkeigaku = Clinical neurology.

MITOCHONDRIAL DNA MUTATION IN FAMILY WITH LEBER'S HEREDITARY OPTIC NEUROPATHY

S. Tsuji, T. Miyatake, S. Horai, 1989, The Lancet.

The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene.

S. Tsuji, S. Kusunoki, K. Saigoh, 2015, Parkinsonism & related disorders.

Neuronal calcium channel autoantibodies coexisting with type 1 Purkinje cell cytoplasmic autoantibodies (PCA-1 or "anti-Yo")

S. Tsuji, M. Motomura, Masami Tanaka, 1998, Neurology.

Anti-NMDA receptor encephalitis associated with transient cerebral dyschromatopsia, prosopagnosia, and lack of stereopsis.

S. Tsuji, H. Sawamura, M. Wakakura, 2014, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy.

T. Matsukawa, S. Tsuji, H. Ishiura, 2016, JAMA neurology.

Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3.

S. Tsuji, A. Miyashita, R. Kuwano, 2007, Brain : a journal of neurology.

[Massively parallel sequence analysis for revealing causes of neuromuscular disorders].

S. Tsuji, H. Ishiura, 2010, Rinsho shinkeigaku = Clinical neurology.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

T. Matsukawa, S. Tsuji, M. Sonoo, 2018, Neurobiology of Aging.

Five year follow up of a patient with spinal and bulbar muscular atrophy treated with leuprorelin

S. Tsuji, T. Shimohata, M. Nishizawa, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Evaluation of spinal and bulbar muscular atrophy by the clustering index method

Yasuo Terao, Yoshikazu Ugawa, Erik Stålberg, 2011, Muscle & nerve.

Two-step technique to optimize the medial antebrachial cutaneous nerve response

S. Tsuji, M. Sonoo, Y. Ugawa, 2010, Clinical Neurophysiology.

Apolipoprotein E ε4 allele and progression of cortical Lewy body pathology in Parkinson’s disease

S. Tsuji, A. Kakita, Hitoshi Takahashi, 1998, Acta Neuropathologica.

A clinical and pathologic study of a large Japanese family with Machado‐ Joseph disease tightly linked to the DNA markers on chromosome 14q

S. Tsuji, Kayoko Saito, K. Saito, 1994, Neurology.

Dentatorubral-pallidoluysian atrophy.

S. Tsuji, 2012, Handbook of clinical neurology.

Premature saccades: A detailed physiological analysis

S. Tsuji, M. Hamada, Y. Terao, 2020, Clinical Neurophysiology.

DRPLA: recent advances in research using transgenic mouse models.

S. Tsuji, Hitoshi Takahashi, M. Yamada, 2013, Methods in molecular biology.

Dentatorubral-pallidoluysian atrophy (DRPLA) presenting with psychosis.

S. Tsuji, T. Asada, K. Arima, 2001, The Journal of neuropsychiatry and clinical neurosciences.

Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics.

S. Tsuji, 2002, Advances in neurology.

Dentatorubral-pallidoluysian atrophy (DRPLA). Molecular basis for wide clinical features of DRPLA.

S. Tsuji, T. Ikeuchi, O. Onodera, 1995, Clinical neuroscience.

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

S. Tsuji, M. Morita, H. Shimazaki, 1998, Journal of the Neurological Sciences.

'Essential tremor' and CAG repeats in the androgen receptor gene

S. Tsuji, T. Miyatake, K. Kaneko, 1993, Neurology.

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype–phenotype correlations

A. Hida, I. Kanazawa, S. Tsuji, 2009, Movement disorders : official journal of the Movement Disorder Society.

[A mother and her son with autosomal dominant bulbar spinal muscular atrophy].

S. Tsuji, K. Sahashi, S. Igarashi, 1992, Rinsho shinkeigaku = Clinical neurology.

A case of late‐onset Krabbe disease which showed subacute progression of spastic paresis with bilateral spinal cord lesions

T. Matsukawa, S. Tsuji, Y. Terao, 2018, Neurology and Clinical Neuroscience.

[A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) with a T-to-C point mutation at nt 8993 of mitochondrial DNA].

S. Tsuji, R. Koide, K. Jinnai, 2000, Rinshō shinkeigaku Clinical neurology.

Novel splice variants of human ADAR2 mRNA: skipping of the exon encoding the dsRNA-binding domains, and multiple C-terminal splice sites.

S. Tsuji, Y. Kawahara, S. Kwak, 2005, Gene.

Expanded polyglutamine stretches lead to aberrant transcriptional regulation in polyglutamine diseases.

S. Tsuji, T. Shimohata, O. Onodera, 2001, Human cell.

[A case of multiple sclerosis with pathological laughing caused by pontine base lesions].

S. Tsuji, Y. Takado, Keiko Tanaka, 2002, Rinshō shinkeigaku Clinical neurology.

Uniform tissue distribution of tRNALys mutation in mitochondrial DNA in MERRF patients

S. Tsuji, M. Yamada, I. Hozumi, 1993, Neurology.

[Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation].

S. Tsuji, T. Miyatake, H. Tanaka, 1993, Nihon rinsho. Japanese journal of clinical medicine.

Cerebellar dysfunction in progressive supranuclear palsy: A transcranial magnetic stimulation study

S. Tsuji, R. Hanajima, M. Hamada, 2010, Movement disorders : official journal of the Movement Disorder Society.

The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q

D. Weeks, S. Tsuji, Hajime Tanaka, 1995, Annals of Neurology.

Reply to Drs. Beutler and Gelbart

S. Tsuji, E. Ginns, B. Martin, 1992 .

Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations

T. Matsukawa, S. Tsuji, T. Momose, 2017, The Cerebellum.

Molecular Genetics of Neurologic Diseases

S. Tsuji, 1999 .

Spinocerebellar ataxia type 17

S. Tsuji, Hitoshi Takahashi, M. Yamada, 2012, Definitions.

Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing

T. Matsukawa, S. Tsuji, S. Morishita, 2017, Journal of the Neurological Sciences.

Reduced interhemispheric inhibition in mild cognitive impairment

S. Tsuji, R. Hanajima, M. Hamada, 2012, Experimental Brain Research.

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

T. Matsukawa, S. Tsuji, M. Hamada, 2019, Internal medicine.

Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy

T. Matsukawa, S. Tsuji, J. Mitsui, 2019, Neurogenetics.

Long term course of change in anti-Yo antibody content in paraneoplastic cerebellar degeneration.

S. Tsuji, T. Miyatake, O. Onodera, 1995, Journal of neurology, neurosurgery, and psychiatry.

2. Elucidation of Molecular Bases of Brain Diseases Based on Personal Genome Analyses

S. Tsuji, 2015 .

Interference with activity-dependent transcriptional activation of BDNF gene depending upon the expanded polyglutamines in neurons.

Masaaki Tsuda, Daichi Hara, S. Tsuji, 2005, Biochemical and biophysical research communications.

Isolation of 353 NotI-linking clones and 62 DNA markers (DXS607-DXS668) from human chromosome Xq24-->qter.

S. Warren, S. Tsuji, T. Miyatake, 1993, Cytogenetics and Cell Genetics.

Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.

J. Weber, J. Weissenbach, S. Tsuji, 1996, American journal of medical genetics.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

Dentatorubral-pallidoluysian atrophy and Haw River syndrome

M. Pericak-Vance, S. Tsuji, M. Yamada, 1994, The Lancet.

Simple detection of tRNALys mutation in myoclonus epilepsy associated with ragged‐red fibers (MERRF) by polymerase chain reaction with a mismatched primer

S. Tsuji, I. Nonaka, M. Yoneda, 1991, Neurology.

Reliability and validity of Japanese version of Unified Multiple System Atrophy Rating Scale

T. Matsukawa, S. Tsuji, G. Wenning, 2021 .

Dentatorubral-pallidoluysian atrophy.

S. Tsuji, 2012, Handbook of clinical neurology.

No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY

S. Sugano, Yutaka Suzuki, S. Tsuji, 2018, Journal of Human Genetics.

Ketotic hyperglycemia-related seizure with reversible white matter lesion: Metabolic implication of its reversibility based on magnetic resonance spectroscopy study

S. Tsuji, Toshihiro Hayashi, K. Kamiya, 2018, Journal of the Neurological Sciences.

AgIn: measuring the landscape of CpG methylation of individual repetitive elements

S. Turner, J. Korlach, S. Tsuji, 2016, Bioinform..

Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance

S. Tsuji, S. Morishita, H. Ishiura, 2016 .

Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines

H. Okano, S. Tsuji, R. Hashimoto, 2016, Molecular Brain.

Novel mutations, pseudo‐dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism

S. Tsuji, T. Yuasa, S. Hayashi, 2000, Annals of neurology.

Neuron-specific analysis of histone modifications with post-mortem brains

S. Tsuji, S. Murayama, A. Tamaoka, 2020, Scientific Reports.

Optic neuropathy and decorticate-like posture as presenting symptoms of Bickerstaff’s brainstem encephalitis: A case report and literature review

S. Tsuji, Y. Terao, J. Shimizu, 2018, Clinical Neurology and Neurosurgery.

[Molecular mechanisms of neurodegeneration in dentatorubral-pallidoluysian atrophy (DRPLA)].

S. Tsuji, 2001, Rinshō shinkeigaku Clinical neurology.

[A sporadic dentatorubral-pallidoluysian atrophy (DRPLA) diagnosed by gene analysis].

S. Tsuji, H. Yoshimoto, T. Ikeuchi, 1995, Rinshō shinkeigaku Clinical neurology.

Abeta1-40 but not Abeta1-42 levels in cortex correlate with apolipoprotein E epsilon4 allele dosage in sporadic Alzheimer's disease.

P. S. St George-Hyslop, S. Tsuji, M. Gearing, 1997, Brain research.

Motor neuron disease with saccadic abnormalities similar to progressive supranuclear palsy

S. Tsuji, R. Hanajima, H. Mori, 2016 .

Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

J. Haines, M. Pericak-Vance, G. Schellenberg, 2013, PLoS ONE.

Transgenic mice harboring a full-length human mutant DRPLA gene reveal CAG repeat instability

Kenji Nakamura, M. Katsuki, S. Tsuji, 1997 .

Neurogenetics in the postgenomic era.

S. Tsuji, 2001, Archives of neurology.

Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy

O. Abe, S. Aoki, T. Matsukawa, 2020, Brain communications.

Reduced interhemispheric inhibition in mild cognitive impairment

S. Tsuji, R. Hanajima, M. Hamada, 2012, Experimental Brain Research.

Autosomal recessive juvenile parkinsonism

S. Tsuji, T. Yuasa, A. Ishikawa, 2000, Brain and Development.

Altered CpG methylation in sporadic Alzheimer's disease is associated with APP and MAPT dysregulation.

S. Tsuji, S. Murayama, K. Iwamoto, 2014, Human molecular genetics.

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

H. Morita, Y. Kuroiwa, S. Tsuji, 2011, American journal of human genetics.

Autotaxin enzyme immunoassay in human cerebrospinal fluid samples.

S. Tsuji, N. Saito, M. Kurokawa, 2009, Clinica chimica acta; international journal of clinical chemistry.

No Ataxia and No Purkinje Cell Loss in Newborn Young of SJL Mice with Anti-Yo Antibody

S. Tsuji, Masami Tanaka, Keiko Tanaka, 1998, Experimental Neurology.

[The detection of anti-Purkinje cell antibody (anti-Yo antibody) by ELISA using recombinant Yo fusion protein].

S. Tsuji, O. Onodera, S. Igarashi, 1994, No to shinkei = Brain and nerve.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

S. Sugano, Yutaka Suzuki, A. Fujiyama, 2018, Nature Genetics.

Sporadic progressive myoclonic epilepsy with early‐onset dementia caused by a de novo mutation in PSEN1

S. Tsuji, S. Morishita, H. Ishiura, 2019, Neurology and Clinical Neuroscience.

A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient

S. Tsuji, I. Nishino, H. Ishiura, 2017, Internal medicine.

Cerebellar dysfunction in progressive supranuclear palsy: A transcranial magnetic stimulation study

S. Tsuji, R. Hanajima, M. Hamada, 2010, Movement disorders : official journal of the Movement Disorder Society.

C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.

S. Tsuji, L. Ranum, H. Ishiura, 2012, Archives of neurology.

Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.

S. Tsuji, S. Takamoto, R. Nagai, 2011, The American journal of cardiology.

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

S. Tsuji, H. Shimazaki, H. Ishiura, 2018, Journal of Human Genetics.

Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.

S. Tsuji, Y. Fukuda, H. Sasaki, 2010, Archives of neurology.

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

Adult-onset Huntington's disease that presented without chorea.

S. Tsuji, A. Iwata, K. Ishihara, 2013, Internal medicine.

[Overview -- exploring molecular basis of sporadic neurologic disorders].

S. Tsuji, 2013, Rinsho shinkeigaku = Clinical neurology.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

T. Matsukawa, S. Tsuji, M. Sonoo, 2018, Neurobiology of Aging.

S. Tsuji, M. Yamada, Y. Toyoshima, 2004 .

Lysosomal sialidase deficiency in sialidosis with partial beta-galactosidase deficiency.

S. Tsuji, T. Miyatake, T. Ariga, 1983, Biochimica et biophysica acta.