Tomonori Nakamura

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.

Vincristine exacerbates asymptomatic Charcot–Marie–Tooth disease with a novel EGR2 mutation

Shinsuke Suzuki, K. Uozumi, Tomonori Nakamura, 2012, neurogenetics.

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

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

Late-onset Charcot–Marie–Tooth disease 4F caused by periaxin gene mutation

Takashi Suzuki, H. Takashima, Y. Okamoto, 2012, neurogenetics.

[Anti-voltage-gated potassium channel (VGKC) complex/leucine-rich glioma-inactivated protein 1 (LGI1) antibody-associated limbic encephalitis mimicking dementia with Lewy bodies in a patient with subacute REM sleep behavior disorder].

T. Oguri, K. Sakurai, H. Yuasa, 2021, Rinsho shinkeigaku = Clinical neurology.

HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report

H. Takashima, R. Kubota, A. Hashiguchi, 2023, BMC Musculoskeletal Disorders.

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

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

Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia.

C. Croce, K. Huebner, R. Berger, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

K. Choi, K. Arimura, R. Hirano, 2007, The EMBO journal.