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Expanded clinical spectrum of oculopharyngodistal myopathy type 1

Muscle & nerve, 2022-12, Vol.66 (6), p.679-685

2022

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Reduced impact of viral load of HHV-6 in liquor on severity of AESD due to exanthema subitum: A case report and literature review

Brain & development (Tokyo. 1979), 2021-09, Vol.43 (8), p.879-883

2021

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Immunotherapy for ocular myasthenia gravis: an observational study in Japan

Therapeutic advances in neurological disorders, 2023-01, Vol.16, p.17562864231163819-17562864231163819

2023

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Low back pain due to superior cluneal nerve entrapment: A clinicopathologic study

Muscle & nerve, 2018-05, Vol.57 (5), p.777-783

2018

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Alanine transaminase is predominantly increased in the active phase of anti-HMGCR myopathy

Neuromuscular disorders : NMD, 2022-01, Vol.32 (1), p.25-32

2022

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Long-term outcomes in motor and cognitive impairment with acute encephalopathy

Brain & development (Tokyo. 1979), 2018-10, Vol.40 (9), p.807-812

2018

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Slowly progressive D-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing

Journal of the neurological sciences, 2017-01, Vol.372, p.6-10

2017

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Needle electromyography, muscle MRI, and muscle pathology: Correlations in idiopathic inflammatory myopathies

Neurology and clinical neuroscience, 2020-01, Vol.8 (1), p.28-35

2020

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Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD

Neurology and clinical neuroscience, 2021-11, Vol.9 (6), p.490-493

2021

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“Localized” chronic invasive fungal rhinosinusitis without serological abnormalities

Neurology and clinical neuroscience, 2019-03, Vol.7 (2), p.96-97

2019

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Spontaneous Regression of an Asymptomatic Meningioma Associated With Discontinuation of Progesterone Agonist Administration: Case Report

Neurologia medico-chirurgica, 2008, Vol.48(5), pp.227-230

2008

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Treatment consensus for management of polymyositis and dermatomyositis among rheumatologists, neurologists and dermatologists

Neurology and clinical neuroscience, 2019-01, Vol.7 (1), p.3-21

2019

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Familial amyloid polyneuropathy diagnosed by minor salivary gland biopsy

Neurology and clinical neuroscience, 2018-03, Vol.6 (2), p.67-67

2018

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A case of late‐onset Leber's hereditary optic neuropathy with elevated serum lactic acid and pyruvic acid levels by cycle ergometer exercise

Neurology and clinical neuroscience, 2018-11, Vol.6 (6), p.179-181

2018

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A case of late‐onset Krabbe disease which showed subacute progression of spastic paresis with bilateral spinal cord lesions

Neurology and clinical neuroscience, 2018-07, Vol.6 (4), p.104-106

2018

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Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay–Sachs disease

Brain & development (Tokyo. 1979), 2010-03, Vol.32 (3), p.244-247

2010

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Neuronal intranuclear inclusion disease presenting with recurrent cerebral infarct‐like lesions

Neurology and clinical neuroscience, 2015-09, Vol.3 (5), p.185-187

2015

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Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance

Neurology and clinical neuroscience, 2016-09, Vol.4 (5), p.189-191

2016

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A clinicopathological study of low back pain due to middle cluneal nerve entrapment: case series

European spine journal, 2024-02, Vol.33 (2), p.490-495

2024

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Inflammatory myopathies associated with anti-mitochondrial antibodies

Brain (London, England : 1878), 2012-06, Vol.135 (Pt 6), p.1767-1777

2012

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Myasthenia gravis with inflammatory myopathy without elevation of creatine kinase

Neuromuscular disorders : NMD, 2021-06, Vol.31 (6), p.570-573

2021

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DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism

Neuromuscular disorders : NMD, 2022-03, Vol.32 (3), p.263-269

2022

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Overexpression of heat shock proteins in pallido-nigral axonal spheroids of nonhuman aged primates

Acta neuropathologica, 2005-08, Vol.110 (2), p.145-150

2005

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Sporadic late‐onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset

Muscle & nerve, 2015-05, Vol.51 (5), p.772-774

2015

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A 52-year-old man with hypohidrosis

Neuropathology, 2006-12, Vol.26 (6), p.592-594

2006

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Expanded clinical spectrum of oculopharyngodistal myopathy type 1

Reduced impact of viral load of HHV-6 in liquor on severity of AESD due to exanthema subitum: A case report and literature review

Immunotherapy for ocular myasthenia gravis: an observational study in Japan

Low back pain due to superior cluneal nerve entrapment: A clinicopathologic study

Alanine transaminase is predominantly increased in the active phase of anti-HMGCR myopathy

Long-term outcomes in motor and cognitive impairment with acute encephalopathy

Slowly progressive D-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing

Needle electromyography, muscle MRI, and muscle pathology: Correlations in idiopathic inflammatory myopathies

Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD

“Localized” chronic invasive fungal rhinosinusitis without serological abnormalities

Spontaneous Regression of an Asymptomatic Meningioma Associated With Discontinuation of Progesterone Agonist Administration: Case Report

Treatment consensus for management of polymyositis and dermatomyositis among rheumatologists, neurologists and dermatologists

Familial amyloid polyneuropathy diagnosed by minor salivary gland biopsy

A case of late‐onset Leber's hereditary optic neuropathy with elevated serum lactic acid and pyruvic acid levels by cycle ergometer exercise

A case of late‐onset Krabbe disease which showed subacute progression of spastic paresis with bilateral spinal cord lesions

Unilaterally and rapidly progressing white matter lesion and elevated cytokines in a patient with Tay–Sachs disease

Neuronal intranuclear inclusion disease presenting with recurrent cerebral infarct‐like lesions

Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance

A clinicopathological study of low back pain due to middle cluneal nerve entrapment: case series

Inflammatory myopathies associated with anti-mitochondrial antibodies

Myasthenia gravis with inflammatory myopathy without elevation of creatine kinase

DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism

Overexpression of heat shock proteins in pallido-nigral axonal spheroids of nonhuman aged primates

Sporadic late‐onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset

A 52-year-old man with hypohidrosis

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