Junhui Yuan

发表

Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE

Tomonori Nakamura, E. Matsuura, H. Takashima, 2013, Journal of the peripheral nervous system : JPNS.

Clinical diversity caused by novel IGHMBP2 variants

Tomonori Nakamura, H. Takashima, Y. Okamoto, 2017, Journal of Human Genetics.

Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs

Tomonori Nakamura, E. Matsuura, H. Takashima, 2014, Journal of the peripheral nervous system : JPNS.

Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan

E. Matsuura, H. Takashima, Y. Okamoto, 2021, The Cerebellum.

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.

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 features of inherited neuropathy with BSCL2 mutations in Japan

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

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

M. Nakagawa, Tomonori Nakamura, H. Takashima, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

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.

Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation

Tomonori Nakamura, E. Matsuura, S. Izumo, 2013, Neurology.

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.

Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study

H. Takashima, A. Yoshimura, A. Hashiguchi, 2022, Journal of Neurology.

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

E. Matsuura, M. Nagai, H. Takashima, 2022, Frontiers in Neurology.

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.

Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease

T. Kanda, H. Takashima, T. Tokashiki, 2022, Annals of clinical and translational neurology.

Novel mutation in the methyltransferase domain of DNMT1 in a hereditary sensory and autonomic neuropathy patient with hearing loss, cataract, and dementia

T. Kanda, H. Takashima, H. Nishihara, 2015 .

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

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

New type of encephalomyelitis responsive to trimethoprim/sulfamethoxazole treatment in Japan

H. Wakaguri, M. Goto, R. Hirano, 2015, Neurology: Neuroimmunology & Neuroinflammation.

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

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

Partial deficiency of emerin caused by a splice site mutation in EMD.

E. Matsuura, H. Takashima, A. Yoshimura, 2014, Internal medicine.

Repeated hyperhidrosis and chilblain‐like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II

T. Shima, T. Kondo, Hidefumi Ito, 2018, The Journal of dermatology.

M. Shibata, H. Takashima, Keiko Yamada, 2016, BMC Neurology.

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2

Kayoko Saito, K. Shiomi, H. Takashima, 2018, Journal of Human Genetics.

Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study

H. Takashima, A. Yoshimura, A. Hashiguchi, 2022, Journal of Neurology.

Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

Katsuhiro Kobayashi, T. Akiyama, H. Yoshinaga, 2015, Pediatric neurology.

A case of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: Long‐term treatment with repeated courses of immunotherapy

T. Yamawaki, T. Kohriyama, H. Maruyama, 2022, Neurology and Clinical Neuroscience.

Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)

T. Yoshiura, H. Takashima, A. Yoshimura, 2018, Journal of the Neurological Sciences.

Mitochondrial myopathy with autophagic vacuoles in patients with the m.8344A>G mutation

H. Takashima, A. Yoshimura, I. Higuchi, 2013, Journal of Clinical Pathology.

[A case of hyperkalemic periodic paralysis presenting progressive myopathy with tubular aggregates].

S. Nakano, Junhui Yuan, K. Yoshimura, 2018, Rinsho shinkeigaku = Clinical neurology.

A case of Andersen–Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide

I. Nakano, A. Kawata, H. Takashima, 2014, Journal of the Neurological Sciences.

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

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

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

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

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan

H. Takashima, A. Yoshimura, A. Hashiguchi, 2023, Frontiers in Neurology.

Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan

H. Takashima, Y. Okamoto, A. Yoshimura, 2021, The Cerebellum.

Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation

H. Takashima, T. Tokashiki, A. Yoshimura, 2023, Frontiers in neurology.

[A clinical and pathological analysis of inclusion body myositis].

Nan Li, Zhe Zhao, Hong-rui Shen, 2007, Zhonghua nei ke za zhi.

Novel mutations identified in patients with a mild phenotype of Ullrich congenital muscular dystrophy through targeted next‐generation sequencing

K. Arimura, E. Matsuura, H. Takashima, 2013 .

WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study

S. Kusunoki, K. Saigoh, A. Taniguchi, 2017, Clinical genetics.

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

H. Takashima, Y. Okamoto, A. Yoshimura, 2023, Journal of neurology.

Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation

Tomonori Nakamura, E. Matsuura, S. Izumo, 2013, Neurology.