S. Tsuji

发表

A critique of the second consensus criteria for multiple system atrophy

Sonja W. Scholz, M. T. Pellecchia, E. Tolosa, 2019, Movement disorders : official journal of the Movement Disorder Society.

Expression profile analysis in cells overexpressing DRPLA cDNA to explore the roles of DRPLAp as a transcriptional coregulator

T. Matsukawa, S. Morishita, H. Ishiura, 2022, Neurology and Clinical Neuroscience.

The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy

M. T. Pellecchia, E. Tolosa, R. Freeman, 2022, Movement disorders : official journal of the Movement Disorder Society.

Randomized, double‐blind, placebo‐controlled phase 1 study to evaluate the safety and pharmacokinetics of high doses of ubiquinol in healthy adults

T. Matsukawa, H. Ishiura, J. Mitsui, 2021, Neurology and Clinical Neuroscience.

Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan

H. Ishiura, J. Mitsui, H. Takashima, 2022, Annals of clinical and translational neurology.

Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease.

T. Matsukawa, Y. Shiio, H. Ishiura, 2022, Cerebellum.

An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families

H. Ishiura, J. Mitsui, E. Matsuura, 2022, Journal of Human Genetics.

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy

H. Ishiura, J. Mitsui, E. Matsuura, 2022, Frontiers in Neurology.

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible

H. Ishiura, J. Mitsui, H. Takashima, 2022, Biomedicines.

Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report

H. Ishiura, J. Mitsui, S. Koyama, 2022, BMC Neurology.

Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia

H. Shimazaki, H. Ishiura, Y. Takiyama, 2021, Journal of Human Genetics.

A Role of Aging in the Progression of Cortical Excitability in Benign Adult Familial Myoclonus Epilepsy type 1 Patients

M. Kanda, A. Ikeda, M. Matsuhashi, 2021, Movement disorders : official journal of the Movement Disorder Society.

An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism–dementia complex

M. Hasegawa, H. Ishiura, S. Kuzuhara, 2021, Neurological Sciences.

No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY

S. Sugano, Yutaka Suzuki, J. Takeda, 2018, Journal of Human Genetics.

DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism

I. Komuro, H. Ishiura, J. Mitsui, 2021, Neuromuscular Disorders.

Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type

T. Matsukawa, Toshihiro Hayashi, H. Sawamura, 2012, neurogenetics.

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

N. Hirokawa, M. Setou, J. Takita, 2001, Cell.

Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder

H. Ishiura, S. Tsuji, Tatsushi Toda, 2023, Journal of Human Genetics.

Expanded clinical spectrum of oculopharyngodistal myopathy type 1

M. Hamada, Kiyoharu Inoue, H. Ishiura, 2022, Muscle & nerve.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Thomas Bourgeron, Christopher Schröder, Bernhard Horsthemke, 2019, Nature Communications.

Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population

T. Matsukawa, H. Ishiura, J. Mitsui, 2021, The Cerebellum.

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations

S. Ishikawa, D. Komura, T. Matsukawa, 2022, Angiogenesis.

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing

S. Morishita, N. Saito, T. Ota, 2022, Scientific Reports.

Factors affecting longitudinal functional decline and survival in amyotrophic lateral sclerosis patients

G. Sobue, M. Morita, R. Kaji, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

A clinical and genetic study of SPG31 in Japan

H. Ishiura, Y. Takiyama, K. Koh, 2022, Journal of Human Genetics.

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes

I. Nishino, S. Morishita, M. Yamaguchi, 2022, Journal of Neurology.

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis

A. Mammen, T. Lloyd, H. Ishiura, 2022, Annals of neurology.

Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments

M. Nakagawa, H. Ishiura, J. Mitsui, 2022, Journal of Human Genetics.

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

K. Haginoya, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population

T. Matsukawa, S. Kusunoki, H. Ishiura, 2021, Journal of the Neurological Sciences.

Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting

R. R. Walsh, S. Piantadosi, J. Schmahmann, 2018, Neurology.

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

J. Gécz, C. Depienne, F. Zara, 2023, Epilepsia.

High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial

N. Sawamoto, T. Matsukawa, R. Hanajima, 2023, EClinicalMedicine.

History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world

P. Striano, S. Berkovic, S. Tsuji, 2023 .

Quantitative Evaluation of Cerebellar Function in Multiple System Atrophy with Transcranial Magnetic Stimulation

R. Hanajima, Y. Terao, Y. Ugawa, 2021, The Cerebellum.

Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases

Kenichiro Sato, Toshihiro Hayashi, K. Murayama, 2021, Internal medicine.

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.

Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability

C. Depienne, M. Corbett, A. M. van den Maagdenberg, 2023, Epilepsia.

Supramaximal responses can be elicited in hand muscles by magnetic stimulation of the cervical motor roots

R. Hanajima, Y. Terao, H. Matsumoto, 2010, Brain Stimulation.

Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD

H. Ishiura, J. Shimizu, K. Sakuishi, 2021, Neurology and Clinical Neuroscience.

Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia

H. Shimazaki, H. Ishiura, Y. Takiyama, 2021, Journal of human genetics.

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Sonja W. Scholz, A. Singleton, Y. Kusakabe, 2023, medRxiv.

APOE Alleles With Tau and Aβ Pathology in Patients With Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex in the Kii Peninsula

H. Okano, H. Ishiura, S. Kuzuhara, 2022, Neurology.

LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits

K. Nakai, Y. Furukawa, H. Okano, 2023, Nature Aging.

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.

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.

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

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

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

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

A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant

S. Morishita, Y. Uesaka, H. Ishiura, 2023, Journal of the Neurological Sciences.

Landscape of CpG methylation of individual repetitive elements

Kazuki Ichikawa, Yuji Takahashi, Yuta Suzuki, 2015 .

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.

The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.

M. Ono, S. Morishita, Yukako Shintani-Domoto, 2023, Internal medicine.

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, G. Rouleau, 2019, The Cerebellum.

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, G. Schellenberg, 2012, The Lancet 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.

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.

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.

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

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

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

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

RESPONSE OF ANTI-NMDA RECEPTOR ENCEPHALITIS WITHOUT TUMOR TO IMMUNOTHERAPY INCLUDING RITUXIMAB

A. Hida, R. Hanajima, S. Matsuda, 2008, Neurology.

Clinical diagnostic criteria of benign adult familial myoclonus epilepsy type 1 are highly concordant with genetic testing

A. Ikeda, T. Hitomi, Katsuya Kobayashi, 2023, Neurology and Clinical Neuroscience.

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

Shinichi Morishita, Yasuo Terao, Yuko Saito, 2019, Nature Genetics.

AgIn: measuring the landscape of CpG methylation of individual repetitive elements

S. Turner, J. Korlach, S. Tsuji, 2016, Bioinform..

Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease

T. Matsukawa, H. Mori, M. Kurokawa, 2023, Brain and Development.

Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution

H. Shang, N. Hattori, N. Ibrahim, 2023, Journal of movement disorders.

DNA mutation analysis of Gaucher patients.

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

SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis

T. Matsukawa, H. Ishiura, Y. Takiyama, 2024, Annals of clinical and translational neurology.

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

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