Search Results - "TAKIYAMA, Yoshihisa"
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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Published in Nature genetics (01-04-2018)“…Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms…”
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Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
Published in Brain (London, England : 1878) (01-12-2016)“…Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions…”
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RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
Published in Journal of human genetics (01-12-2020)“…Recently, the expansion of an intronic AAGGG repeat in the replication factor C subunit 1 (RFC1) gene was reported to cause cerebellar ataxia, neuropathy,…”
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A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature
Published in BMC neurology (09-11-2021)“…Abstract Background Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary…”
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Variants in saposin D domain of prosaposin gene linked to Parkinson's disease
Published in Brain (London, England : 1878) (01-04-2020)“…Recently, the genetic variability in lysosomal storage disorders has been implicated in the pathogenesis of Parkinson's disease. Here, we found that variants…”
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Ubap1 knock-in mice reproduced the phenotype of SPG80
Published in Journal of human genetics (01-12-2022)“…Abstract SPG80 is a neurodegenerative disorder characterized by a pure type of juvenile-onset hereditary spastic paraplegia and is caused by a heterozygous…”
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A Nepalese family with an REEP2 mutation: clinical and genetic study
Published in Journal of human genetics (01-07-2021)“…Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive weakness and…”
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Exogenous parathyroid hormone attenuates ovariectomy-induced skeletal muscle weakness in vivo
Published in Bone (New York, N.Y.) (01-10-2021)“…Osteoporosis commonly affects the elderly and is associated with significant morbidity and mortality. Loss of bone mineral density induces muscle atrophy and…”
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Repeated Brain Magnetic Resonance Imaging Provides Clues for the Diagnosis of Autoimmune Glial Fibrillary Acid Protein Astrocytopathy
Published in Internal Medicine (01-10-2022)“…We herein report a 47-year-old man with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) revealed by periventricular radial linear…”
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A treatable case of autoimmune GFAP astrocytopathy presenting chronic progressive cognitive impairment
Published in Neurological sciences (01-10-2020)Get full text
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11
Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation
Published in Internal Medicine (01-01-2021)“…Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder clinically characterized by slowly progressing spastic paraparesis. We herein report a…”
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Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia
Published in Journal of human genetics (01-02-2022)“…Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders characterized by weakness and leg spasticity. LYST is responsible for…”
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A clinical and genetic study of SPG31 in Japan
Published in Journal of human genetics (01-07-2022)“…SPG31 is an autosomal dominant hereditary spastic paraplegia caused by pathogenic variants in the receptor expression-enhancing protein 1 (REEP1) gene. We…”
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JASPAC: Japan Spastic Paraplegia Research Consortium
Published in Brain sciences (13-08-2018)“…Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSPs are…”
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A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
Published in Human genome variation (27-07-2022)“…A heterozygous mutation in GRID2 that causes SCAR18 was first reported in an Algerian family with autosomal dominant cerebellar ataxia (ADCA). We identified…”
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MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations
Published in Internal Medicine (15-12-2021)“…We herein describe a Charcot-Marie-Tooth disease (CMT) family with a MFN2 mutation with atypical ocular manifestations. The proband, his mother, his third…”
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SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
Published in BMC neurology (11-02-2021)“…ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B,…”
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Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
Published in Internal Medicine (15-08-2019)“…Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with mutations in the MAPT gene is a hereditary neurodegenerative tauopathy with…”
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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Published in Brain (London, England : 1878) (02-05-2023)“…Abstract In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to…”
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