Search Results - "Ishikawa, Kin'ya"
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Spinocerebellar ataxia type 31 (SCA31)
Published in Journal of human genetics (01-03-2023)“…Spinocerebellar ataxia type 31 (SCA31) is one of the most common forms of autosomal-dominant cerebellar ataxia in Japan. SCA31 has a strong founder effect,…”
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Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31)
Published in Neurotherapeutics (01-10-2019)“…Spinocerebellar ataxia type 31 (SCA31) is one of the autosomal-dominant neurodegenerative disorders that shows progressive cerebellar ataxia as a cardinal…”
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Small molecule targeting r(UGGAA)n disrupts RNA foci and alleviates disease phenotype in Drosophila model
Published in Nature communications (11-01-2021)“…Synthetic small molecules modulating RNA structure and function have therapeutic potential for RNA diseases. Here we report our discovery that naphthyridine…”
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Tandem internal models execute motor learning in the cerebellum
Published in Proceedings of the National Academy of Sciences - PNAS (10-07-2018)“…In performing skillful movement, humans use predictions from internal models formed by repetition learning. However, the computational organization of internal…”
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Gait disorders induced by photothrombotic cerebellar stroke in mice
Published in Scientific reports (22-09-2023)“…Patients with cerebellar stroke display relatively mild ataxic gaits. These motor deficits often improve dramatically; however, the neural mechanisms of this…”
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Insight Into Spinocerebellar Ataxia Type 31 (SCA31) From Drosophila Model
Published in Frontiers in neuroscience (25-05-2021)“…Spinocerebellar ataxia type 31 (SCA31) is a progressive neurodegenerative disease characterized by degeneration of Purkinje cells in the cerebellum. Its…”
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Cryptogenic New-onset Refractory Status Epilepticus with Hyperintensity of T1-weighted Magnetic Resonance Imaging in the Bilateral Basal Ganglia: An Autopsy Report
Published in Internal Medicine (27-09-2024)“…We present a 76-year-old man with cryptogenic new-onset refractory status epilepticus (C-NORSE) with an initial abnormal signal in the nucleus accumbens and a…”
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Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31
Published in Neuron (Cambridge, Mass.) (05-04-2017)“…Microsatellite expansion disorders are pathologically characterized by RNA foci formation and repeat-associated non-AUG (RAN) translation. However, their…”
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Spinocerebellar ataxia type 31: A clinical and radiological literature review
Published in Journal of the neurological sciences (15-01-2023)“…Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (ADCA type 3). While SCA31 is the third…”
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FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72 -linked ALS/FTD
Published in eLife (18-07-2023)“…Abnormal expansions of GGGGCC repeat sequence in the noncoding region of the gene is the most common cause of familial amyotrophic lateral sclerosis and…”
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Spinocerebellar Ataxia Type 31 Exacerbated by Anti-amino Terminal of Alpha-enolase Autoantibodies
Published in Internal Medicine (15-09-2022)“…We herein report a 61-year-old woman who was genetically diagnosed with spinocerebellar ataxia type 31 whose symptoms were modified by anti-amino terminal of…”
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A commentary on confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1
Published in Journal of human genetics (01-12-2012)Get full text
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Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model
Published in Human molecular genetics (01-09-2015)“…Spinocerebellar ataxia type 6 (SCA6) is dominantly inherited neurodegenerative disease, caused by an expansion of CAG repeat encoding a polyglutamine (PolyQ)…”
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Uncovering the Localization and Function of a Novel Read-Through Transcript ' TOMM40-APOE '
Published in Cells (Basel, Switzerland) (01-01-2024)“…Recent advancements in genome analysis technology have revealed the presence of read-through transcripts in which transcription continues by skipping the polyA…”
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Impaired Adaptive Motor Learning Is Correlated With Cerebellar Hemispheric Gray Matter Atrophy in Spinocerebellar Ataxia Patients: A Voxel-Based Morphometry Study
Published in Frontiers in neurology (14-11-2019)“…To evaluate the degree to which recently proposed parameters measured via a prism adaptation task are correlated with changes in cerebellar structure,…”
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Quantitative evaluation of human cerebellum-dependent motor learning through prism adaptation of hand-reaching movement
Published in PloS one (18-03-2015)“…The cerebellum plays important roles in motor coordination and learning. However, motor learning has not been quantitatively evaluated clinically. It thus…”
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Comorbid argyrophilic grain disease in an 87-year-old male with spinocerebellar ataxia type 31 with dementia: a case report
Published in BMC neurology (15-04-2020)“…Spinocerebellar ataxia type 31 (SCA31) is not usually associated with dementia, and autopsy in a patient with both conditions is very rare. An 87-year-old male…”
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Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42
Published in Neurobiology of disease (01-10-2019)“…Spinocerebellar ataxia 42 (SCA42) is a neurodegenerative disorder recently shown to be caused by c.5144G > A (p.Arg1715His) mutation in CACNA1G, which encodes…”
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A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging
Published in Journal of the neurological sciences (15-04-2018)“…Cerebellar ataxias (CAs) are heterogeneous conditions often require differential diagnosis. This study aimed to establish a diagnostic decision tree for…”
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Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial
Published in Lancet neurology (01-09-2010)“…Summary Background Spinal and bulbar muscular atrophy is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen…”
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