M. Ando

发表

The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan

H. Takashima, A. Hashiguchi, Y. Higuchi, 2022, Neurological Sciences.

Clinical diversity caused by novel IGHMBP2 variants

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

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.

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.

Genetic and phenotypic profile of 112 patients with X‐linked Charcot–Marie–Tooth disease type 1

H. Takashima, Y. Okamoto, A. Yoshimura, 2018, European journal of neurology.

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.

An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families

H. Ishiura, J. Mitsui, E. Matsuura, 2022, Journal of Human Genetics.

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.

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.

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.

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.

Japanese case of Charcot–Marie–Tooth disease type 2Z with severe retinitis pigmentosa

H. Takashima, T. Yamashita, Ryo Sasaki, 2022, Neurology and Clinical Neuroscience.

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.

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.

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.

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.

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

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

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

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

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.

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 spastic paraplegia 48 with a novel mutation in the AP5Z1 gene].

H. Takashima, T. Otomo, M. Ando, 2020, 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.

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

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

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

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

K. Saigoh, M. Kuwahara, M. Samukawa, 2023, Scientific reports.