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Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan

European journal of neurology, 2017-10, Vol.24 (10), p.1274-1282

2017

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Development of highly radiopure NaI(Tl) scintillator for PICOLON dark matter search project

Progress of theoretical and experimental physics, 2021-04, Vol.2021 (4)

2021

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Development of an alpha-particle imaging detector based on a low radioactivity micro-time-projection chamber

Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment, 2020-02, Vol.953, p.163050, Article 163050

2020

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RESPONSE OF ANTI-NMDA RECEPTOR ENCEPHALITIS WITHOUT TUMOR TO IMMUNOTHERAPY INCLUDING RITUXIMAB

Neurology, 2008-12, Vol.71 (23), p.1921-1923

2008

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Results of a directional dark matter search from the NEWAGE experiment

Journal of physics. Conference series, 2020-02, Vol.1468 (1), p.12042

2020

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Development of a negative ion micro TPC detector with SF6 gas for the directional dark matter search

Journal of instrumentation, 2020-07, Vol.15 (7)

2020

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Response of anti-NMDA receptor encephalitis without tumor to immunotherapy including rituximab

Neurology, 2008-12, Vol.71 (23), p.1921

2008

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Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants

Clinical genetics, 2017-09, Vol.92 (3), p.274-280

2017

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Prototype analog front-end for negative-ion gas and dual-phase liquid-Ar TPCs

Journal of instrumentation, 2019-01, Vol.14 (1), p.T01008-T01008, Article T01008

2019

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Late-onset familial neuronal intranuclear inclusion disease presenting with dementia and unique MRI findings

Journal of the neurological sciences, 2013-10, Vol.333, p.e347-e347

2013

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C.P.14 A four-generation Japanese family with autosomal dominant nemaline myopathy associated with dilated cardiomyopathy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.845-845

2012

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Comprehensive genetic testing for mitochondrial disorders using sanger sequencing, southern blotting, whole exome sequencing, and whole mitochondrial genome sequencing

Journal of the neurological sciences, 2017-10, Vol.381, p.1079-1079

2017

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Brain (London, England : 1878), 2021-06, Vol.144 (5), p.1422-1434

2021

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Fragile X-associated tremor/ataxia syndrome (FXTAS) in Japan - an epidemiological, molecular and clinical study

Journal of the neurological sciences, 2017-10, Vol.381, p.378-378

2017

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Development of a negative ion micro TPC detector with SF 6 gas for the directional dark matter search

Journal of instrumentation, 2020-07, Vol.15 (7), p.P07015-P07015

2020

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Induced pluripotent stem cell-derived neuronal cells from patients with multiple system atrophy as a model for investigating the pathogenesis linked to coenzyme Q10 insufficiency

Journal of the neurological sciences, 2017-10, Vol.381, p.889-890

2017

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A novel missense mutation in valosin-containing protein gene identified in a Japanese family with a pure form of hereditary spastic paraplegia

Journal of the neurological sciences, 2017-10, Vol.381, p.212-213

2017

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Diagnostic role of aerobic exercise tests on cycle ergometry in clinical settings

Journal of the neurological sciences, 2017-10, Vol.381, p.699-699

2017

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Interpretation of sequence variants called by whole exome sequencing in the clinical sequence of muscular diseases

Journal of the neurological sciences, 2017-10, Vol.381, p.460-460

2017

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Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (9), p.1024-1028

2014

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Mutational analysis of sporadic amyotrophic lateral sclerosis (ALS) with loss of function mutations in ALS-related genes in the Japanese population

Journal of the neurological sciences, 2017-10, Vol.381, p.569-569

2017

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Search for target genes of transcriptional regulation by Dentatorubral-pallidoluysian atrophy protein that acts as a transcriptional co-regulator

Journal of the neurological sciences, 2017-10, Vol.381, p.57-57

2017

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A Japanese consanguineous family with early-onset dementia

Journal of the neurological sciences, 2017-10, Vol.381, p.382-383

2017

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DNMT1 p.Y495H mutation is frequently associated with cerebellar ataxia compared with p.Y495C mutation

Journal of the neurological sciences, 2017-10, Vol.381, p.307-307

2017

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Mutational analysis of abcd1 in 86 adrenoleukodystrophy patients, including identification of complex mutations

Journal of the neurological sciences, 2017-10, Vol.381, p.159-159

2017

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Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan

Development of highly radiopure NaI(Tl) scintillator for PICOLON dark matter search project

Development of an alpha-particle imaging detector based on a low radioactivity micro-time-projection chamber

RESPONSE OF ANTI-NMDA RECEPTOR ENCEPHALITIS WITHOUT TUMOR TO IMMUNOTHERAPY INCLUDING RITUXIMAB

Results of a directional dark matter search from the NEWAGE experiment

Development of a negative ion micro TPC detector with SF6 gas for the directional dark matter search

Response of anti-NMDA receptor encephalitis without tumor to immunotherapy including rituximab

Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by GDAP1 variants

Prototype analog front-end for negative-ion gas and dual-phase liquid-Ar TPCs

Late-onset familial neuronal intranuclear inclusion disease presenting with dementia and unique MRI findings

C.P.14 A four-generation Japanese family with autosomal dominant nemaline myopathy associated with dilated cardiomyopathy

Comprehensive genetic testing for mitochondrial disorders using sanger sequencing, southern blotting, whole exome sequencing, and whole mitochondrial genome sequencing

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Fragile X-associated tremor/ataxia syndrome (FXTAS) in Japan - an epidemiological, molecular and clinical study

Development of a negative ion micro TPC detector with SF 6 gas for the directional dark matter search

Induced pluripotent stem cell-derived neuronal cells from patients with multiple system atrophy as a model for investigating the pathogenesis linked to coenzyme Q10 insufficiency

A novel missense mutation in valosin-containing protein gene identified in a Japanese family with a pure form of hereditary spastic paraplegia

Diagnostic role of aerobic exercise tests on cycle ergometry in clinical settings

Interpretation of sequence variants called by whole exome sequencing in the clinical sequence of muscular diseases

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

Mutational analysis of sporadic amyotrophic lateral sclerosis (ALS) with loss of function mutations in ALS-related genes in the Japanese population

Search for target genes of transcriptional regulation by Dentatorubral-pallidoluysian atrophy protein that acts as a transcriptional co-regulator

A Japanese consanguineous family with early-onset dementia

DNMT1 p.Y495H mutation is frequently associated with cerebellar ataxia compared with p.Y495C mutation

Mutational analysis of abcd1 in 86 adrenoleukodystrophy patients, including identification of complex mutations

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