Y. Hiramatsu

发表

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.

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

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

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 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.

Epidemiology, diagnosis and treatment of systemic Candida infection in surgical patients under intensive care

J. Vincent, E. Anaissie, D. Pittet, 1998, Intensive Care Medicine.

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.

Cerebral infarction associated with accessory middle cerebral arteries: two case reports.

H. Takashima, H. Matsuoka, R. Hamada, 2014, Internal medicine.

Neuron‐specific knockdown of Drosophila HADHB induces a shortened lifespan, deficient locomotive ability, abnormal motor neuron terminal morphology and learning disability

H. Yoshida, M. Yamaguchi, Ryo Tanaka, 2019, Experimental cell research.

Neuron‐specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting

H. Yoshida, M. Yamaguchi, H. Takashima, 2018, Experimental cell research.

Successful pregnancy in renal transplant recipients.

K. Orita, T. Kudo, S. Saito, 1993, Acta medica Okayama.

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.

Toxocara canis myelitis involving the lumbosacral region: a case report

E. Matsuura, H. Maruyama, H. Takashima, 2017, Journal of Spinal Cord Medicine (JSCM).

Reproductive risk in mating between two translocation carriers: case report and review of the literature.

Y. Hiramatsu, Y. Seino, S. Ninomiya, 1993, American journal of medical genetics.

Manifestation of Pituitary Tumor Subclinical Diabetes during Pregnancy Insipidus due to

Otsuka, Nobuhiko, Hayakawa, 2006 .

Manifestation of subclinical diabetes insipidus due to pituitary tumor during pregnancy.

F. Otsuka, T. Ogura, H. Makino, 1996, Endocrine journal.

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.

A case of cor triatriatum with end-stage renal disease: successful management of open heart surgery under hemodialysis, subsequent renal transplantation and pregnancy.

M. Shigenobu, S. Teramoto, Y. Hiramatsu, 1993, The Journal of cardiovascular surgery.

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.

シャルコー・マリー・トゥース病に類似した三頭酵素欠損症の成人例

R. Kaji, H. Nodera, Y. Izumi, 2017 .

Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.

R. Kaji, H. Nodera, Y. Izumi, 2017, Rinsho shinkeigaku = Clinical neurology.

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

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