Y. Higuchi

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.

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.

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.

PLA2G6 variants associated with the number of affected alleles in Parkinson’s disease in Japan

Y. Shimo, T. Hashimoto, N. Hattori, 2020, Neurobiology of Aging.

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.

Extremely severe complicated spastic paraplegia 3A with neonatal onset.

T. Yonekawa, M. Sasaki, H. Takashima, 2014, Pediatric 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.

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 .

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.

Neuron‐specific knockdown of the Drosophila fat induces reduction of life span, deficient locomotive ability, shortening of motoneuron terminal branches and defects in axonal targeting

H. Yoshida, M. Yamaguchi, Aya Nakamura, 2017, Genes to cells : devoted to molecular & cellular mechanisms.

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

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

A mild case of giant axonal neuropathy without central nervous system manifestation

T. Shiihara, M. Sasaki, H. Takashima, 2016, Brain and Development.

Clinical genetics of Charcot–Marie–Tooth disease

H. Takashima, Y. Higuchi, 2022, Journal of Human 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.

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

[The Cutting-edge of Medicine; Progress in clinical genetics of inherited neuropathy].

H. Takashima, Y. Higuchi, 2015, Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine.

Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease

K. Shiga, M. Nakagawa, I. Mizuta, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

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

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

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

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

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation

S. Tsuji, S. Morishita, Y. Ando, 2015, Neuropathology and applied neurobiology.

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.

Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction

T. Kanda, M. Takao, H. Kawano, 2017, Neurology: Genetics.

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.

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.

X-linked Charcot–Marie–Tooth disease type 5 with recurrent weakness after febrile illness

H. Takashima, T. Yamagata, Takao Morimune, 2019, Brain and Development.

MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2

T. Kawarai, A. Orlacchio, R. Kaji, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Adult‐onset Krabbe disease presenting with an isolated form of peripheral neuropathy

H. Takashima, H. Adachi, N. Oka, 2016, 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.

Histopathological features of a patient with Charcot‐Marie‐Tooth disease type 2U/AD‐CMTax‐MARS

S. Kusunoki, H. Takashima, N. Oka, 2016, Journal of the peripheral nervous system : JPNS.