A. Hashiguchi

发表

Histopathological differences between human T‐lymphotropic virus type 1‐positive and human T‐lymphotropic virus type 1‐negative polymyositis

E. Matsuura, S. Izumo, H. Takashima, 2011 .

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.

Vincristine exacerbates asymptomatic Charcot–Marie–Tooth disease with a novel EGR2 mutation

Shinsuke Suzuki, K. Uozumi, Tomonori Nakamura, 2012, neurogenetics.

[A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report].

E. Matsuura, H. Takashima, Y. Hokezu, 2017, Rinsho shinkeigaku = Clinical neurology.

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.

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.

[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene].

T. Komori, K. Mizoguchi, H. Takashima, 2020, Rinsho shinkeigaku = Clinical neurology.

Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation

H. Shigeto, J. Kira, T. Tateishi, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

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.

A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1.

H. Takashima, Kengo Maeda, Ryo Idehara, 2014, Internal medicine.

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.

Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan

S. Kusunoki, Hidekazu Suzuki, Y. Hamada, 2021, Journal of Neurology.

A case of successful renal transplantation of Charcot‐Marie‐Tooth disease associated with FSGS due to mutation of the INF2 gene

K. Abe, M. Araki, H. Takashima, 2022, Neurology and Clinical Neuroscience.

A novel EGR2 mutation within a family with a mild demyelinating form of Charcot‐Marie‐Tooth disease

K. Shiga, M. Nakagawa, I. Mizuta, 2012, Journal of the peripheral nervous system : JPNS.

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.

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.

Inclusion body myositis coexisting with hypertrophic cardiomyopathy: An autopsy study

K. Arimura, H. Takashima, I. Higuchi, 2012, Neuromuscular Disorders.

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 .

[Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient].

H. Takashima, M. Kuriyama, Kota Sato, 2018, Rinsho shinkeigaku = Clinical neurology.

A family with IVIg-responsive Charcot–Marie–Tooth disease

K. Sugimoto, M. Baba, H. Takashima, 2013, Journal of Neurology.

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible

H. Ishiura, J. Mitsui, H. Takashima, 2022, Biomedicines.

Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency

K. Arimura, M. Osame, I. Higuchi, 2006, Muscle & nerve.

A novel mutation in FGD4 causes Charcot–Marie–Tooth disease type 4H with cranial nerve involvement

J. Kira, K. Yamashita, H. Takashima, 2017, Neuromuscular Disorders.

Charcot–Marie–Tooth disease with a mutation in FBLN5 accompanying with the small vasculitis and widespread onion-bulb formations

S. Kusunoki, K. Saigoh, H. Takashima, 2019, Journal of the Neurological Sciences.

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

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

Different pattern of HSP47 expression in skeletal muscle of patients with neuromuscular diseases

K. Arimura, E. Matsuura, M. Osame, 2007, Neuromuscular Disorders.

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

M. Frith, K. Katoh, G. Sobue, 2019, Nature Genetics.

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Fumiaki Tanaka, Hiroshi Doi, Martin C Frith, 2019, Nature Genetics.

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

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

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.

Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report

N. Kurahashi, K. Aso, H. Takashima, 2016, Brain and Development.

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.

Repeated hyperhidrosis and chilblain‐like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II

T. Shima, T. Kondo, Hidefumi Ito, 2018, The Journal of dermatology.

MRI studies of spinal visceral larva migrans syndrome

K. Arimura, E. Matsuura, M. Osame, 2006, Journal of the Neurological Sciences.

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.

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

Charcot‐marie‐tooth disease type 4C in Japan: Report of a case

Y. Shimizu, Kayoko Saito, S. Uchiyama, 2013, Muscle & nerve.

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

G. Sobue, N. Kokubun, Y. Takiyama, 2016, Brain : a journal of neurology.

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.

The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan

I. Nishino, R. Kaji, H. Nodera, 2019, Orphanet Journal of Rare Diseases.

[A case of chronic progressive neuro-Behçet disease with extensive cerebral atrophy and elevated CSF IL-6 activity treated with infliximab].

H. Takashima, A. Hashiguchi, Y. Sakiyama, 2018, Rinsho shinkeigaku = Clinical 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.

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

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

Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening

Y. Ikeda, H. Takashima, K. Nagashima, 2021, Internal medicine.

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.

Charcot–Marie–Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease

N. Sawamoto, H. Takashima, N. Oka, 2017, Journal of Human Genetics.

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.

[A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant].

K. Ikenaka, H. Mochizuki, H. Takashima, 2022, Rinsho shinkeigaku = Clinical neurology.

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

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

(Pro)renin receptor accelerates development of sarcopenia via activation of Wnt/YAP signaling axis

A. Nishiyama, K. Fukuda, J. Endo, 2019, Aging cell.

Long-read sequencing identifies GGC repeat expansion in human-specific NOTCH2NLC associated with neuronal intranuclear inclusion disease

M. Frith, G. Sobue, N. Matsumoto, 2019, bioRxiv.

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.

Cryptococcus Meningitis Can Co-occur with Anti-NMDA Receptor Encephalitis

Tomonori Nakamura, E. Matsuura, H. Takashima, 2020, Internal medicine.

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.

HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report

H. Takashima, R. Kubota, A. Hashiguchi, 2023, BMC Musculoskeletal Disorders.

Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient

H. Maruyama, H. Takashima, M. Nakamori, 2023, Frontiers in 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.

Novel mutations in SH3TC2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

S. Takeshita, H. Takashima, A. Hashiguchi, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

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

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

Charcot–Marie–Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease

N. Sawamoto, R. Takahashi, H. Takashima, 2017, Journal of Human Genetics.

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.

Vincristine exacerbates asymptomatic Charcot–Marie–Tooth disease with a novel EGR2 mutation

Shinsuke Suzuki, K. Uozumi, Tomonori Nakamura, 2012, neurogenetics.

A Novel PRPS1 Mutation in a Japanese Patient with CMTX5

Y. Sunada, T. Murakami, H. Takashima, 2021, Internal medicine.

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.