K. Koh

发表

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study

Y. Takiyama, Ying Wang, K. Koh, 2014, Journal of Human Genetics.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Koji Abe, Sumio Sugano, Akio Ikeda, 2018, Nature Genetics.

No relation between sympathetic outflow to muscles and respiratory function in amyotrophic lateral sclerosis

Y. Takiyama, K. Koh, N. Yamashiro, 2015, Journal of the Neurological Sciences.

Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: A case report and literature review

G. Sobue, Y. Takiyama, K. Koh, 2019, Epilepsy & Behavior Case Reports.

UBAP 1 mutations cause juvenile-onset hereditary spastic paraplegias ( SPG 80 ) and impair UBAP 1 targeting to endosomes

S. Hamada, S. Tsuji, H. Ishiura, 2019 .

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

S. Hamada, S. Tsuji, H. Ishiura, 2019, Journal of Human Genetics.

Sympathetic outflow to skin predicts central autonomic dysfunction in multiple system atrophy

Y. Takiyama, K. Koh, K. Shindo, 2020, Neurological Sciences.

Conjugal cerebellar type of multiple system atrophy: Person-to-person transmission?

Z. Yamagata, Y. Takiyama, K. Koh, 2019, Parkinsonism & related disorders.

Pre- and postganglionic vasomotor dysfunction causes distal limb coldness in multiple system atrophy

Y. Takiyama, K. Koh, N. Yamashiro, 2017, Journal of the Neurological Sciences.

Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene

Y. Takiyama, K. Koh, Y. Ichinose, 2019, Internal medicine.

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

H. Shimazaki, Y. Takiyama, K. Koh, 2022, Human Genome Variation.

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome

S. Tsuji, H. Ishiura, Y. Takiyama, 2015, Journal of Human Genetics.

Hot cross bun sign in a late-onset SCA1 patient

Y. Takiyama, Ying Wang, K. Koh, 2016, Neurological Sciences.

Decreasing 123I-ioflupane SPECT accumulation and 123I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene

Y. Takiyama, K. Koh, K. Shindo, 2018, Neurological Sciences.

Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation

M. Shoji, Y. Takiyama, Y. Ikeda, 2020, Internal medicine.

Japanese amyotrophic lateral sclerosis patient with learning disabilities with a deletion mutation in the C‐terminal of the FUS/TLS gene

Y. Takiyama, M. Aoki, Masaaki Kato, 2015 .

Exome sequencing shows a novel de novo mutation in ATL1

S. Tsuji, S. Morishita, H. Ishiura, 2014 .

Vasomotor regulation in patients with multiple system atrophy

Y. Takiyama, K. Koh, N. Yamashiro, 2017, Journal of Neural Transmission.

Whole‐exome sequencing reveals a missense mutation in the KCND3 gene in a patient with SCA19/22

Y. Takiyama, M. Namekawa, Ying Wang, 2015 .

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

Y. Takiyama, K. Koh, K. Shindo, 2019, BMC Neurology.

Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis

E. Nagata, Y. Takiyama, K. Koh, 2018, Internal medicine.

Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8

S. Tsuji, H. Ishiura, K. Koh, 2016, Clinical Neurology and Neurosurgery.

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 mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

S. Tsuji, H. Shimazaki, H. Ishiura, 2018, Journal of Human Genetics.

Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia

H. Shimazaki, H. Ishiura, Y. Takiyama, 2021, Journal of Human Genetics.

Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.

N. Hattori, T. Hatano, Yih-Ru Wu, 2020, Brain : a journal of neurology.

A case of late‐onset Chediak‐Higashi syndrome with progressive gait disturbance and cognitive dysfunction caused by novel variant in LYST gene

Y. Takiyama, K. Koh, Makio Takahashi, 2020 .

S. Hamada, S. Tsuji, H. Shimazaki, 2019, Molecular genetics & genomic medicine.

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

Y. Takiyama, A. Cortese, K. Koh, 2020, Journal of Human Genetics.

Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family

Y. Takiyama, N. Hara, T. Ikeuchi, 2017, Journal of the Neurological Sciences.

[A case of Creutzfeldt-Jakob disease with a double mutation (V180I/M232R) in the PRNP gene].

Y. Takiyama, K. Koh, Michiaki Miwa, 2015, Rinshō shinkeigaku Clinical neurology.

[Cheyne-Stokes respiration appeared in an early stage of the disease in a patient with Creutzfeldt-Jakob disease].

Y. Takiyama, K. Koh, N. Yamashiro, 2013, Rinsho shinkeigaku = Clinical neurology.

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

S. Tsuji, K. Haginoya, H. Ishiura, 2018, Journal of Human Genetics.

A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

Y. Takiyama, K. Koh, Y. Ichinose, 2016, Clinical genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

S. Tsuji, H. Onishi, S. Morishita, 2019, Parkinsonism & related disorders.

Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐Marie‐Tooth disease

Y. Takiyama, K. Koh, M. Tsuchiya, 2018, Journal of the peripheral nervous system : JPNS.

A clinical and genetic study of SPG31 in Japan

H. Ishiura, Y. Takiyama, K. Koh, 2022, Journal of Human Genetics.

A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene

Y. Takiyama, K. Koh, M. Hashiyada, 2020, Internal medicine.

JASPAC: Japan Spastic Paraplegia Research Consortium

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Brain sciences.

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

S. Tsuji, H. Ishiura, Y. Takiyama, 2021, BMC Neurology.

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

S. Tsuji, M. Yoshita, H. Ishiura, 2020, Neurology: Genetics.

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

K. Haginoya, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

Paraneoplastic sensorimotor neuropathy associated with mediastinal germ cell tumor: favorable outcome after high-dose intravenous immunoglobulin therapy

Y. Takiyama, K. Koh, K. Shindo, 2019, Neurological Sciences.

Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5

Y. Takiyama, K. Koh, M. Tsuchiya, 2018, Internal medicine.

Sympathetic nerve outflow to skin in a case with dentatorubral-pallidoluysian atrophy

Y. Takiyama, K. Koh, K. Shindo, 2021, Journal of Clinical Neuroscience.

Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia

H. Shimazaki, H. Ishiura, Y. Takiyama, 2021, Journal of human genetics.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

S. Sugano, Yutaka Suzuki, A. Fujiyama, 2018, Nature Genetics.

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

S. Tsuji, H. Shimazaki, H. Ishiura, 2018, Journal of Human Genetics.

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia

S. Tsuji, H. Ishiura, Y. Takiyama, 2018, Journal of Human Genetics.

Y. Takiyama, K. Koh, K. Shindo, 2020, Journal of clinical hypertension.

SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis

T. Matsukawa, H. Ishiura, Y. Takiyama, 2024, Annals of clinical and translational neurology.