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A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

Human genome variation, 2021-05, Vol.8 (1), p.21-21, Article 21

2021

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Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough

Journal of human genetics, 2020-09, Vol.65 (9), p.717-725

2020

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Quantitative analysis of neurofibrillary pathology in a general population to reappraise neuropathological criteria for senile dementia of the neurofibrillary tangle type (tangle-only dementia): The Hisayama study

Neuropathology, 2006-12, Vol.26 (6), p.508-518

2006

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Altered expression of COX-2 in subdivisions of the hippocampus during aging and in Alzheimer's disease: the Hisayama Study

Dementia and geriatric cognitive disorders, 2007-01, Vol.23 (6), p.423-431

2007

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Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family

Neurogenetics, 2011-02, Vol.12 (1), p.25-31

2011

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Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG

Clinical neurology and neurosurgery, 2009-02, Vol.111 (2), p.211-215

2009

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A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy

European journal of medical genetics, 2017-09, Vol.60 (9), p.474-478

2017

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A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia

Journal of the neurological sciences, 2015-09, Vol.356 (1), p.142-147

2015

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Clinicopathological Outline of Dementia with Lewy Bodies Applying the Revised Criteria: The Hisayama Study

Brain pathology (Zurich, Switzerland), 2008-07, Vol.18 (3), p.317-325

2008

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Anhedonia in Japanese patients with Parkinson's disease: Analysis using the Snaith–Hamilton Pleasure Scale

Clinical neurology and neurosurgery, 2012-05, Vol.114 (4), p.352-355

2012

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Overlap syndrome comprised of systemic sclerosis and systemic lupus erythematosus associated with spinocerebellar ataxia type 6 and MALT lymphoma

EJD. European journal of dermatology, 2013, Vol.23 (1), p.117-117

2013

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Symmetrical brainstem encephalitis caused by herpes simplex virus

Journal of clinical neuroscience, 2009-04, Vol.16 (4), p.589-590

2009

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Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough

Journal of the neurological sciences, 2008-10, Vol.273 (1), p.88-92

2008

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1B-09 Linkage-Assisted Exome Sequencing To Identify The Responsible Variant For A Novel Type Of Hereditary Motor And Sensory Neuropathy With Proximal Dominancy In The Lower Extremities Found In A Single Japanese Family

Genes & Genetic Systems, 2012-12, Vol.87 (6), p.402-402

2012

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Parkinsonism and ataxia associated with an intracranial dural arteriovenous fistula presenting with hyperintense basal ganglia in T1-weighted MRI

Journal of clinical neuroscience, 2009-02, Vol.16 (2), p.341-343

2009

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Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patient

Clinical neurology and neurosurgery, 2009-12, Vol.111 (10), p.791-794

2009

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A case of intracerebral hemorrhage at the site of cerebral microbleeds after IV rt-PA thrombolysis for cerebral infarction

Nōsotchū, 2012, Vol.34 (2), p.94-97

2012

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Bell-shaped sensory impairments of all modalities in a neurosarcoidosis patient

Clinical neurology and neurosurgery, 2007-11, Vol.109 (9), p.794-798

2007

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Tuberculous meningoencephalitis

Nihon Naika Gakkai zasshi, 2006-07, Vol.95 (7), p.1251-1254

2006

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Combined treatment with prednisolone and tacrolimus for myasthenia gravis with invasive thymoma

Acta neurologica Belgica, 2010-03, Vol.110 (1), p.107-109

2010

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Pathological study on abducent paralysis of the vocal cord in a patient having multiple system atrophy with nasogastric intubation

Rinshō shinkeigaku, 2007-06, Vol.47 (6), p.340

2007

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Generalized Seizure and Eruption of Distal Limbs in a Patient with Lymphomatoid Granulomatosis

Nihon Naika Gakkai Zasshi, 2008, Vol.97(2), pp.417-419

2008

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Generalized Seizure and Eruption of Distal Limbs in a Patient with Lymphomatoid Granulomatosis

Nihon Naika Gakkai zasshi, 2008, Vol.97 (2), p.417-419

2008

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A case of hemophagocytic syndrome associated with miliary tuberculosis

Kekkaku, 2003-06, Vol.78 (6), p.443

2003

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四肢の皮疹と痙攣発作にて発症したLymphomatoid granulomatosis（LYG）の1例

日本内科学会雑誌, 2008, Vol.97(2), pp.417-419

2008

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A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough

Quantitative analysis of neurofibrillary pathology in a general population to reappraise neuropathological criteria for senile dementia of the neurofibrillary tangle type (tangle-only dementia): The Hisayama study

Altered expression of COX-2 in subdivisions of the hippocampus during aging and in Alzheimer's disease: the Hisayama Study

Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family

Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG

A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy

A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia

Clinicopathological Outline of Dementia with Lewy Bodies Applying the Revised Criteria: The Hisayama Study

Anhedonia in Japanese patients with Parkinson's disease: Analysis using the Snaith–Hamilton Pleasure Scale

Overlap syndrome comprised of systemic sclerosis and systemic lupus erythematosus associated with spinocerebellar ataxia type 6 and MALT lymphoma

Symmetrical brainstem encephalitis caused by herpes simplex virus

Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough

1B-09 Linkage-Assisted Exome Sequencing To Identify The Responsible Variant For A Novel Type Of Hereditary Motor And Sensory Neuropathy With Proximal Dominancy In The Lower Extremities Found In A Single Japanese Family

Parkinsonism and ataxia associated with an intracranial dural arteriovenous fistula presenting with hyperintense basal ganglia in T1-weighted MRI

Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patient

A case of intracerebral hemorrhage at the site of cerebral microbleeds after IV rt-PA thrombolysis for cerebral infarction

Bell-shaped sensory impairments of all modalities in a neurosarcoidosis patient

Tuberculous meningoencephalitis

Combined treatment with prednisolone and tacrolimus for myasthenia gravis with invasive thymoma

Pathological study on abducent paralysis of the vocal cord in a patient having multiple system atrophy with nasogastric intubation

Generalized Seizure and Eruption of Distal Limbs in a Patient with Lymphomatoid Granulomatosis

Generalized Seizure and Eruption of Distal Limbs in a Patient with Lymphomatoid Granulomatosis

A case of hemophagocytic syndrome associated with miliary tuberculosis

四肢の皮疹と痙攣発作にて発症したLymphomatoid granulomatosis（LYG）の1例

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