A. Yoshimura

发表

The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins

N. Hasebe, H. Takashima, J. Sawada, 2019, Internal medicine.

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.

Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss

T. Hamamoto, S. Takeno, A. Yoshimura, 2021, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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.

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.

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.

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene

T. Iwasaki, K. Miyata, Jinhee Lee, 2022, American Journal of Ophthalmology Case Reports.

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.

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.

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.

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.

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

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

T. Kawarai, A. Orlacchio, R. Kaji, 2019, Neuromuscular Disorders.

Benzalkonium Chloride Resistance in Staphylococcus epidermidis on the Ocular Surface of Glaucoma Patients Under Long-Term Administration of Eye Drops

M. Aihara, T. Iwasaki, K. Miyata, 2020, Translational vision science & technology.

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

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

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.

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

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

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

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

H. Takashima, A. Yoshimura, H. Sumi, 2021, Internal medicine.

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

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

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

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

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.

Clinical presentation of axial myopathy in two siblings with HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP)

E. Matsuura, H. Takashima, A. Yoshimura, 2015, BMC 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.

Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation

Y. Ando, S. Yamashita, K. Hara, 2019, Muscle & nerve.

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

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

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 .

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.