J. Mitsui

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.

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.

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis

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

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.

Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene

H. Morita, Y. Taniguchi, H. Ishiura, 2022, Clinical case reports.

Clinical significance of NF2 alteration in grade I meningiomas revisited; prognostic impact integrated with extent of resection, tumour location, and Ki-67 index

S. Ishikawa, D. Komura, H. Katoh, 2022, Acta Neuropathologica Communications.

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.

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.

Variants associated with Gaucher disease in multiple system atrophy

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

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.

Esophageal Dysmotility is Common in Patients With Multiple System Atrophy

P. Belafsky, T. Yamasoba, N. Nativ-Zeltzer, 2020, The Laryngoscope.

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

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

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.

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

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

Pathology of the sympathetic nervous system corresponding to the decreased cardiac uptake in 123I-metaiodobenzylguanidine (MIBG) scintigraphy in a patient with Parkinson disease

I. Kanazawa, T. Momose, Y. Ugawa, 2006, Journal of the Neurological Sciences.

Short communication Pathology of the sympathetic nervous system corresponding to the decreased cardiac uptake in 123 I-metaiodobenzylguanidine (MIBG) scintigraphy in a patient with Parkinson disease

I. Kanazawa, T. Momose, Y. Ugawa, 2006 .

Mutant COQ2 in multiple-system atrophy.

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

Familial dementia with Lewy bodies with VPS13C mutations.

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

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.

NF2 Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing Meningiomas

N. Saito, J. Mitsui, H. Nakatomi, 2022, Cancers.

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.

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.

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 .

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

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

Clinical features of inherited neuropathy with BSCL2 mutations in Japan

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

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

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

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.

[Toward identification of susceptible genes for sporadic neurodegenerative disease].

J. Mitsui, 2013, Rinsho shinkeigaku = Clinical neurology.

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

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

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

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

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 .

Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

Y. Tsurusaki, J. Mitsui, K. Kurosawa, 2018, Human Genome Variation.

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.

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

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

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.

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.

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.

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.

Respiratory and cardiac function in japanese patients with dysferlinopathy

N. Yonemoto, I. Nonaka, Y. Hayashi, 2016, Muscle & nerve.

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.

Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges

N. Saito, J. Mitsui, Y. Teranishi, 2021, Scientific Reports.

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

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

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

Y. Tsurusaki, J. Mitsui, K. Kurosawa, 2017, Human Genome Variation.

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.

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

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

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.

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

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

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.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

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

A Case of Irreversible Corneal Edema Associated with Dentatorubropallidoluysian Atrophy Following Corneal Endothelial Transplantation

T. Matsukawa, M. Aihara, H. Ishiura, 2021, SN Comprehensive Clinical Medicine.

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.

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

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

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.

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

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

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

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

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

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

Landscape of CpG methylation of individual repetitive elements

Kazuki Ichikawa, Yuji Takahashi, Yuta Suzuki, 2015 .

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.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

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

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.

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

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

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.

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing

Y. Tsurusaki, J. Mitsui, Y. Kuroda, 2021, Clinical genetics.

Common Chromosomal Fragile Sites: Breakages and Rearrangements in Somatic and Germline Cells

J. Mitsui, S. Tsuji, 2012 .

Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation

S. Morishita, J. Mitsui, J. Yoshimura, 2020, Human mutation.

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.

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

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

Symptomatic and Stenotic Developmental Venous Anomaly with Pontine Capillary Telangiectasia: A Case Report with Genetic Considerations

N. Saito, J. Mitsui, Daiichiro Ishigami, 2022, NMC case report journal.

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.

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.

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.

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.

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

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

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

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

Genomic aspects of sporadic neurodegenerative diseases.

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

Atypical parkinsonism caused by Pro105Leu mutation of prion protein

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

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.

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.

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.

Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism.

A. Oka, J. Mitsui, T. Kajii, 2019, Bone.

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

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

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.

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

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

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.

A Case of Ureteral Endometriosis That Developed 5 Years After Laparoscopic Adnexectomy

J. Mitsui, S. Morimoto, Y. Teramoto, 2019, JOURNAL OF THE JAPANESE ASSOCIATION OF RURAL MEDICINE.

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.

Multiple system atrophy variant with severe hippocampal pathology

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

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.

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

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

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis

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

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

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

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

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

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.

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.

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

A Case of Adenocarcinoma on an Ileostomy Site Developed 25 Years after Surgery for Ulcerative Colitis with Anal Canal Cancer—A Case Report—

T. Kushibiki, J. Mitsui, H. Hashida, 2014 .

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.

Clinical significance of NF2 alteration in grade I meningiomas revisited; prognostic impact integrated with extent of resection, tumour location, and Ki-67 index

S. Ishikawa, D. Komura, H. Katoh, 2022, Acta neuropathologica communications.

Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy.

T. Matsukawa, S. Tsuji, H. Ishiura, 2016, JAMA 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.

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.

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.

Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies.

M. Ono, H. Morita, Y. Taniguchi, 2021, Circulation. Genomic and precision medicine.

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.

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.

PHACES‐like syndrome with TMEM260 compound heterozygous variants

J. Mitsui, Y. Kuroda, K. Kurosawa, 2023, American journal of medical genetics. Part A.

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.

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.

Reliability and validity of Japanese version of Unified Multiple System Atrophy Rating Scale

T. Matsukawa, S. Tsuji, G. Wenning, 2021 .

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

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

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.

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.

Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy

O. Abe, S. Aoki, T. Matsukawa, 2020, Brain communications.

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.

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

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

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.

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

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

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

Copper Deficiency in Wilson's Disease with a Normal Zinc Value

H. Ishiura, J. Mitsui, Masayuki Ueda, 2022, Internal medicine.