Y. Okamoto

发表

The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins

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

Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan

K. Arimura, R. Hirano, H. Takashima, 2009, Journal of Human Genetics.

Clinical diversity caused by novel IGHMBP2 variants

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

A new mitochondria‐related disease showing myopathy with episodic hyper‐creatine kinase‐emia

K. Arimura, M. Nakagawa, H. Takashima, 2011, Annals of neurology.

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.

Autosomal dominant palatal myoclonus and spinal cord atrophy

K. Arimura, M. Nakagawa, Y. Okamoto, 2002, Journal of the Neurological Sciences.

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.

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

H. Takashima, Y. Okamoto, Zhe Zhao, 2012, Neurology.

A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation

M. Nakagawa, H. Takashima, Y. Okamoto, 2003, Neuroscience Letters.

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.

Curcumin facilitates a transitory cellular stress response in Trembler-J mice.

J. Lupski, D. Pehlivan, W. Wiszniewski, 2013, Human molecular genetics.

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

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

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis

S. Tsujino, Tomokatsu Yoshida, M. Nakagawa, 2011, Journal of Neurology.

The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells

Tomokatsu Yoshida, M. Nakagawa, Y. Okamoto, 2007, 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.

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.

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.

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.

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.

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

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

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Cell reports.

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.

Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families

K. Arimura, M. Nakagawa, R. Hirano, 2004, Neurogenetics.

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).

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

J. Lupski, R. Gibbs, D. Muzny, 2015, Genetics in Medicine.

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Donna M. Muzny, Yuji Okamoto, Richard A. Gibbs, 2013, Genetics in Medicine.

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene

K. Arimura, M. Nakagawa, R. Hirano, 2006, Neurogenetics.

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

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

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma

M Nakagawa, J. Lupski, C. Boerkoel, 2004, Neurology.

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy

K. Arimura, H. Takashima, Y. Okamoto, 2011, Acta Neuropathologica.

[Inherited Creutzfeldt-Jakob disease with four-octapeptide repeat insertional mutation in the prion gene].

H. Takashima, Y. Okamoto, Y. Nobuhara, 2021, Rinshō shinkeigaku Clinical neurology.

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.

The Influence of Age on the Outcomes of Traumatic Brain Injury: Findings from a Japanese Nationwide Survey (J-ASPECT Study-Traumatic Brain Injury).

K. Hongo, H. Nakase, T. Shono, 2019, World neurosurgery.

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

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

Bilateral striatal necrosis caused by a founder mitochondrial 14459G>A mutation in two independent Japanese families

K. Makioka, Y. Ikeda, H. Takashima, 2017, Journal of the Neurological Sciences.

Adult‐type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case

K. Arimura, A. Sano, Y. Okamoto, 2011, Psychiatry and clinical neurosciences.

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.

Glial fibrillary acidic protein mutations in adult‐onset Alexander disease: clinical features observed in 12 Japanese patients

Y. Hayashi, M. Nakagawa, I. Mizuta, 2011, Acta neurologica Scandinavica.

Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan

H. Takashima, Y. Okamoto, A. Yoshimura, 2021, The Cerebellum.

The Current State of Charcot–Marie–Tooth Disease Treatment

H. Takashima, Y. Okamoto, 2023, Genes.

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

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