Y. Ichikawa

发表

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.

S. Tsuji, G. Sobue, T. Kawarai, 2012, American journal of human genetics.

Mutations in COQ2 in familial and sporadic multiple-system atrophy.

J. Trojanowski, S. Gilman, K. Shirahige, 2013, The New England journal of medicine.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Koji Abe, Sumio Sugano, Akio Ikeda, 2018, Nature Genetics.

Machado–Joseph disease gene products carrying different carboxyl termini

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

Variants associated with Gaucher disease in multiple system atrophy

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

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

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

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.

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 .

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

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

Dentatorubral-pallidoluysian atrophy proteins in lymphoblastoid cells

I. Kanazawa, N. Nukina, Y. Ichikawa, 1996, Neurology.

[A case of combined sensation disturbance and clumsiness of the left hand caused by an infarction localized to brodmann areas 1 and 2].

Y. Sunada, Y. Ichikawa, K. Takeda, 2007, Rinsho shinkeigaku = Clinical neurology.

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.

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

L. Tranebjaerg, J. Goto, Y. Ichikawa, 2008, European Journal of Human 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..

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

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

A japanese family carrying a novel mutation in the emery‐dreifuss muscular dystrophy gene

S. Murayama, J. Goto, Y. Ichikawa, 1997, Annals 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.

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

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

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.

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

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

Plasma exchange therapy inhibited the progression of anti-MAG antibody-associated polyneuropathy

Y. Ichikawa, S. Kaname, Satoshi Kobayashi, 2020, Nihon Toseki Igakkai Zasshi.

Homozygous Machado–Joseph disease presenting as REM sleep behaviour disorder and prominent psychiatric symptoms

I. Kanazawa, J. Goto, Y. Ichikawa, 2002, European journal of neurology.

The genomic structure and expression of MJD, the Machado-Joseph disease gene

M. Hattori, Y. Sakaki, I. Kanazawa, 2001, Journal of Human Genetics.

Atypical parkinsonism caused by Pro105Leu mutation of prion protein

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

CV2/CRMP5-antibody-related Paraneoplastic Optic Neuropathy Associated with Small-cell Lung Cancer

Y. Ichikawa, M. Motomura, I. Nakashima, 2018, Internal medicine.

Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity.

I. Komuro, Y. Sunada, H. Toko, 2003, Human molecular genetics.

Overexpression of P 104 L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity

I. Komuro, Y. Sunada, H. Toko, 2003 .

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

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

Is multiple system atrophy with cerebellar ataxia (MSA-C) like spinocerebellar ataxia and multiple system atrophy with parkinsonism (MSA-P) like Parkinson’s disease? – A saccade study on pathophysiology

R. Hanajima, M. Hamada, Y. Terao, 2016, Clinical Neurophysiology.

Time Distortion in Parkinsonism

Y. Terao, Y. Ugawa, Masahiko Suzuki, 2021, Frontiers in Neuroscience.

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.

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

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

Attitude of outpatients with neuromuscular diseases in Japan to pain and use of analgesics

M. Miyashita, Y. Ichikawa, K. Kazuma, 2008, Journal of the Neurological Sciences.

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.

A Case of CV2/CRMP5-antibody-related Paraneoplastic Optic Neuropathy Associated with Small-cell Lung Cancer

Y. Ichikawa, M. Motomura, I. Nakashima, 2017 .

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.

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.

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

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

Dentatorubral-pallidoluysian atrophy proteins in lymphoblastoid cells

N. Nukina, Y. Ichikawa, I. Yazawa, 1996, Neurology.

Machado-Joseph disease gene product identified in lymphocytes and brain.

I. Kanazawa, G. Wang, N. Nukina, 1997, Biochemical and biophysical research communications.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

S. Sugano, Yutaka Suzuki, A. Fujiyama, 2018, Nature Genetics.

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

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

Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity.

I. Komuro, Y. Sunada, H. Toko, 2003, Human molecular genetics.

Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.

I. Kanazawa, G. Sobue, T. Shimohata, 1999, Human molecular genetics.

Pure alexia for kana. Characterization of alexia with lesions of the inferior occipital cortex

Shoji Tsuji, Yasuo Terao, Yasuhisa Sakurai, 2008, Journal of the Neurological Sciences.

Pure alexia from a posterior occipital lesion

Y. Sakurai, Y. Ichikawa, T. Mannen, 2001, Neurology.