Y. Sakiyama

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.

A new mitochondria‐related disease showing myopathy with episodic hyper‐creatine kinase‐emia

K. Arimura, M. Nakagawa, H. Takashima, 2011, Annals of neurology.

The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1

N. Murase, N. Hattori, H. Kusaka, 2020, Neurobiology of Aging.

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.

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

H. Takashima, Y. Okamoto, Zhe Zhao, 2012, Neurology.

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.

Peripheral neuropathy in a case with CADASIL: a case report

Tomonori Nakamura, E. Matsuura, H. Takashima, 2018, BMC Neurology.

Inclusion body myositis coexisting with hypertrophic cardiomyopathy: An autopsy study

K. Arimura, H. Takashima, I. Higuchi, 2012, Neuromuscular Disorders.

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.

Seroprevalence of anti-ganglionic acetylcholine receptor antibodies in patients with functional neurological symptom disorder/conversion disorder

M. Yamakuchi, D. Kodama, Y. Higuchi, 2022, medRxiv.

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.

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

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

The application of shotgun metagenomics to the diagnosis of granulomatous amoebic encephalitis due to Balamuthia mandrillaris: a case report

T. Kanekura, E. Matsuura, K. Yagita, 2021, BMC Neurology.

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy

K. Arimura, H. Takashima, Y. Okamoto, 2011, Acta Neuropathologica.

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

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

[A case of chronic progressive neuro-Behçet disease with extensive cerebral atrophy and elevated CSF IL-6 activity treated with infliximab].

H. Takashima, A. Hashiguchi, Y. Sakiyama, 2018, Rinsho shinkeigaku = Clinical neurology.

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

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

Anti-ganglionic acetylcholine receptor antibodies in functional neurological symptom disorder/conversion disorder

M. Yamakuchi, T. Hashiguchi, H. Takashima, 2023, Frontiers in Neurology.

Case of autoimmune autonomic ganglionopathy manifesting anhidrosis

T. Kanekura, S. Nakane, O. Higuchi, 2017, The Journal of dermatology.

Efficacy of l‐Arginine treatment in patients with HTLV‐1‐associated neurological disease

E. Matsuura, Y. Yamano, H. Takashima, 2022, Annals of clinical and translational neurology.

Cryptococcus Meningitis Can Co-occur with Anti-NMDA Receptor Encephalitis

Tomonori Nakamura, E. Matsuura, H. Takashima, 2020, Internal medicine.

Identification and tracking of HTLV-1–infected T cell clones in virus-associated neurologic disease

S. Nakahata, H. Takashima, A. Yoshimura, 2023, JCI insight.

[A case of a syndrome resembling PSP after aortic arch replacement under deep hypothermic circulatory arrest].

H. Takashima, K. Nakahara, S. Tomari, 2011, Rinshō shinkeigaku Clinical 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.

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 .

Transcranial magnetic stimulation for tinnitus : No better than sham treatment ?

H. Kamel, N. Hadjikhani, M. Gorno-Tempini, 2012 .

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

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