H. Ishiura

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.

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.

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.

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.

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.

Proteomic profile of nuclei containing p62-positive inclusions in neuronal intranuclear inclusion disease

Kenichiro Sato, M. Setou, S. Murayama, 2022, bioRxiv.

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.

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.

CSF p-tau181 increases in patients with neuronal intranuclear inclusion disease without amyloid burden

A. Tokumaru, S. Murayama, H. Ishiura, 2022, medRxiv.

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

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

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.

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.

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.

Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis

G. Sobue, T. Kanda, K. Abe, 2021, Journal of Neurology.

Nonsyndromic arteriopathy and aortopathy and vascular Ehlers–Danlos syndrome causing COL3A1 variants

Jiro Sato, H. Akazawa, H. Morita, 2022, American journal of medical genetics. Part A.

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome

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

TDP‐43 Proteinopathy Presenting with Typical Symptoms of Parkinson's Disease

M. Hasegawa, H. Ishiura, H. Mochizuki, 2022, Movement Disorders.

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.

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.

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 .

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.

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 .

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 .

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.

Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction

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

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.

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.

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.

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.

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.

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.

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

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

Cranial Nerve Involvement and Dysautonomia in Post-COVID-19 Guillain-Barré Syndrome

M. Hamada, H. Ishiura, T. Toda, 2021, Internal medicine.

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

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

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

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

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

S. Tsuji, M. Hamada, S. Kako, 2008, 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.

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.

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.

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.

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.

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

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

Partial duplication of DHH causes minifascicular neuropathy

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

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.

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.

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.

Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease

Kenichiro Sato, M. Setou, H. Ishiura, 2023, Neurobiology of Disease.

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.

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.

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

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

Hypertrophic pachymeningitis and tracheobronchial stenosis in IgG4-related disease: case presentation and literature review.

T. Kano, H. Ishiura, A. Mimori, 2012, Internal medicine.

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.

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.

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

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.

Dominant mutations in RP1L1 are responsible for occult macular dystrophy.

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

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 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.

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.

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.

Isolated Paravermal Hyperintensities in Neuronal Intranuclear Inclusion Disease

C. Fujimoto, H. Ishiura, F. Suzuki, 2022, Neurology.

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.

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 .

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

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

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

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

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.

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.

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.

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

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

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.

CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease

A. Tokumaru, S. Murayama, H. Ishiura, 2022, Neurology.

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.

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.

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.

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

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

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.

A clinical and genetic study of SPG31 in Japan

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

JASPAC: Japan Spastic Paraplegia Research Consortium

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

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

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

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis

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

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

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

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

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

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.

Temporal characterization of memory retrieval processes: a fMRI study of ‘tip of the tongue’ phenomenon

Kensuke Sekihara, Hiroyuki Ishiura, Hideyuki Kikyo, 2001, NeuroImage.

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.

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.

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.

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.

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.

Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation

H. Ishiura, Y. Nagafuchi, H. Shoda, 2022, Clinical Rheumatology.

Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy.

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

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 novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitis.

T. Yamauchi, H. Ishiura, Masaki Tanaka, 2023, Journal of clinical lipidology.

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.

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.

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.

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.

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.

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.

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.

[Molecular genetics and gene analysis of hereditary spastic paraplegia].

H. Ishiura, 2014, Rinsho shinkeigaku = Clinical neurology.

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

T. Matsukawa, S. Tsuji, M. Hamada, 2019, Internal medicine.

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.

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 .

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..

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.

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.

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.

Anti-neurofascin 155 Antibody-positive Neuropathy in a Human Immunodeficiency Virus-infected Patient.

H. Ishiura, S. Yanagimoto, W. Satake, 2023, Internal medicine.

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.

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.

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

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

CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy.

H. Ishiura, Longquan Chen, Zhiqiang Wang, 2023, Journal of genetics and genomics = Yi chuan xue bao.

A case of intravascular lymphoma presenting with a lesion in the splenium of the corpus callosum

H. Ishiura, O. Abe, Kenta Orimo, 2023, Radiology case reports.

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

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