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Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias

Neurochemistry international, 2016-03, Vol.94, p.1-8

2016

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A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

American journal of human genetics, 2014-09, Vol.95 (3), p.294-300

2014

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Coexistence of Huntington’s disease and amyotrophic lateral sclerosis: a clinicopathologic study

Acta neuropathologica, 2012-11, Vol.124 (5), p.749-760

2012

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Reversible Cerebral Vasoconstriction Syndrome(RCVS)and Posterior Reversible Encephalopathy Syndrome(PRES)

Nō shinkei geka, 2021-03, Vol.49 (2), p.342

Tada, Masayoshi

2021

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Redefining cerebellar ataxia in degenerative ataxias: lessons from recent research on cerebellar systems

Journal of Neurology, Neurosurgery and Psychiatry, 2015-08, Vol.86 (8), p.922-928

2015

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Long-term therapeutic efficacy and safety of low-dose tacrolimus (FK506) for myasthenia gravis

Journal of the neurological sciences, 2006-08, Vol.247 (1), p.17-20

2006

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Diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

European journal of neurology, 2018-01, Vol.25 (1), p.142-147

2018

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Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS

Neurology, 2014-01, Vol.82 (2), p.139

2014

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Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids

Annals of neurology, 2016-10, Vol.80 (4), p.554-565

2016

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Roles of the cerebellum and basal ganglia in temporal integration: Insights from a synchronized tapping task

Clinical neurophysiology, 2024-02, Vol.158, p.1-15

2024

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Arginine is a disease modifier for polyQ disease models that stabilizes polyQ protein conformation

Brain (London, England : 1878), 2020-06, Vol.143 (6), p.1811-1825

2020

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Role of RNF213 p.4810K variant in the development of intracranial arterial disease in patients treated with nilotinib

Journal of the neurological sciences, 2020-01, Vol.408, p.116577, Article 116577

2020

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Overview of Hereditary Spinocerebellar Ataxias in Japan

Brain and nerve = Shinkei kenkyū no shinpo, 2017-08, Vol.69 (8), p.879

2017

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Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Brain (London, England : 1878), 2008-03, Vol.131 (3), p.772-784

2008

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Early adult-onset orbital apex Langerhans cell histiocytosis histologically confirmed during “truly spontaneous” regression

Acta neurochirurgica, 2012-02, Vol.154 (2), p.301-302

2012

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Hereditary diffuse leukoencephalopathy with spheroids (HDLS): a review of the literature on its clinical characteristics and mutations in the colony-stimulating factor-1 receptor gene

Brain and nerve = Shinkei kenkyū no shinpo, 2014-05, Vol.66 (5), p.581

2014

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Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends

Nucleic acids research, 2007-06, Vol.35 (11), p.3797

2007

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Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations

Neuropathology and applied neurobiology, 2014-08, Vol.40 (5), p.551-563

2014

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Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia

Brain (London, England : 1878), 2011-05, Vol.134 (Pt 5), p.1387-1399

2011

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Nitrogen Absorption by Sm2Fe17

Journal of the Ceramic Society of Japan, 2006, Vol.114(1335), pp.896-901

2006

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Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of J apanese patients with novel SCARB2 mutations

Neuropathology and applied neurobiology, 2014-08, Vol.40 (5), p.551-563

2014

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Disease notification and self-determination in treatment decisions for patients with Creutzfeldt-Jakob disease

Rinsho shinkeigaku = Clinical neurology, 2014, Vol.54 (4), p.298

2014

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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1

Advances in experimental medicine and biology, 2010, Vol.685, p.21

2010

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Early development of autonomic dysfunction may predict poor prognosis in patients with multiple system atrophy

Archives of neurology (Chicago), 2007-02, Vol.64 (2), p.256

2007

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Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

Coexistence of Huntington’s disease and amyotrophic lateral sclerosis: a clinicopathologic study

Reversible Cerebral Vasoconstriction Syndrome(RCVS)and Posterior Reversible Encephalopathy Syndrome(PRES)

Redefining cerebellar ataxia in degenerative ataxias: lessons from recent research on cerebellar systems

Long-term therapeutic efficacy and safety of low-dose tacrolimus (FK506) for myasthenia gravis

Diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS

Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids

Roles of the cerebellum and basal ganglia in temporal integration: Insights from a synchronized tapping task

Arginine is a disease modifier for polyQ disease models that stabilizes polyQ protein conformation

Role of RNF213 p.4810K variant in the development of intracranial arterial disease in patients treated with nilotinib

Overview of Hereditary Spinocerebellar Ataxias in Japan

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

The Japan MSA registry: A multicenter cohort study of multiple system atrophy

Early adult-onset orbital apex Langerhans cell histiocytosis histologically confirmed during “truly spontaneous” regression

Hereditary diffuse leukoencephalopathy with spheroids (HDLS): a review of the literature on its clinical characteristics and mutations in the colony-stimulating factor-1 receptor gene

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends

Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations

Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia

Nitrogen Absorption by Sm2Fe17

Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of J apanese patients with novel SCARB2 mutations

Disease notification and self-determination in treatment decisions for patients with Creutzfeldt-Jakob disease

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1

Early development of autonomic dysfunction may predict poor prognosis in patients with multiple system atrophy

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