Search Results - "Hata, Takanori"

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia by Tsuchiya, Mai, Nan, Haitian, Koh, Kishin, Ichinose, Yuta, Gao, Lihua, Shimozono, Keisuke, Hata, Takanori, Kim, Yeon-Jeong, Ohtsuka, Toshihisa, Cortese, Andrea, Takiyama, Yoshihisa

“…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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Current progress in microRNA profiling of circulating extracellular vesicles in amyotrophic lateral sclerosis: A systematic review by Ueno, Yuji, Morishima, Yuto, Hata, Takanori, Shindo, Atsuhiko, Murata, Hiroaki, Saito, Tatsuya, Nakamura, Yuki, Shindo, Kazumasa

“…Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons, leading to death resulting mainly from…”
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Ubap1 knock-in mice reproduced the phenotype of SPG80 by Shimozono, Keisuke, Nan, Haitian, Hata, Takanori, Saito, Kozo, Kim, Yeon-Jeong, Nagatomo, Hiroaki, Ohtsuka, Toshihisa, Koizumi, Schuichi, Takiyama, Yoshihisa

“…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 by Nan, Haitian, Takaki, Ryusuke, Hata, Takanori, Koh, Kishin, Takiyama, Yoshihisa

“…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 by Fujimaki, Taro, Ando, Takashi, Hata, Takanori, Takayama, Yoshihiro, Ohba, Tetsuro, Ichikawa, Jiro, Takiyama, Yoshihisa, Tatsuno, Rikito, Koyama, Katsuhiro, Haro, Hirotaka

“…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 by Natori, Takahiro, Fukao, Toko, Watanabe, Tsubasa, Kurita, Takafumi, Hata, Takanori, Kimura, Akio, Shindo, Kazumasa, Shimohata, Takayoshi, Takiyama, Yoshihisa

“…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 clinical and genetic study of SPG31 in Japan by Hata, Takanori, Nan, Haitian, Koh, Kishin, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa

“…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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MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations by Nan, Haitian, Hata, Takanori, Fukao, Toko, Fukao, Toshimichi, Chen, Wanjing, Kurita, Takafumi, Natori, Takahiro, Takiyama, Yoshihisa

“…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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Case report: Atypical case of autoimmune glial fibrillary acidic protein astrocytopathy following COVID-19 vaccination refractory to immunosuppressive treatments by Morishima, Yuto, Hata, Takanori, Nakajima, Sho, Shindo, Kazumasa, Tsuchiya, Mai, Watanabe, Tsubasa, Tahara, Ippei, Kondo, Tetsuo, Kimura, Akio, Shimohata, Takayoshi, Ueno, Yuji

“…A 54-year-old Japanese man presented with headache and fever the day after SARS-CoV-2 vaccination. He became deeply unconscious within a week. Brain MRI showed…”
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Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐Marie‐Tooth disease by Nan, Haitian, Takaki, Ryusuke, Hata, Takanori, Ichinose, Yuta, Tsuchiya, Mai, Koh, Kishin, Takiyama, Yoshihisa

“…We report the first family with a glycyl‐tRNA synthetase (GARS) mutation with autosomal dominant intermediate Charcot‐Marie‐Tooth disease (DI‐CMT). The proband…”
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Sympathetic outflow to skin predicts central autonomic dysfunction in multiple system atrophy by Shindo, Kazumasa, Fukao, Toko, Kurita, Naofumi, Satake, Akane, Tsuchiya, Mai, Ichinose, Yuta, Hata, Takanori, Koh, Kishin, Nagasaka, Takamura, Takiyama, Yoshihisa

“…Background To find out the physiological method for evaluating the severity of central autonomic dysfunction, we performed detailed evaluation of cutaneous…”
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Spinocerebellar ataxia type 31 associated with REM sleep behavior disorder: a case report by Shindo, Kazumasa, Sato, Tohko, Murata, Hiroaki, Ichinose, Yuta, Hata, Takanori, Takiyama, Yoshihisa

“…Spinocerebellar ataxia type 31 (SCA 31) is a slowly progressive neurodegenerative disorder characterized by pure cerebellar ataxia. Unlike other CAG repeat…”
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Age‐related changes in blood pressure and heart rates of patients with Parkinson's disease by Shindo, Kazumasa, Morishima, Yuto, Suwa, Yumi, Fukao, Toko, Kurita, Takafumi, Satake, Akane, Tsuchiya, Mai, Ichinose, Yuta, Hata, Takanori, Koh, Kishin, Nagasaka, Takamura, Takiyama, Yoshihisa

“…This study evaluated yearly changes in systolic blood pressure (SBP), diastolic blood pressure (DBP), and heart rates (HR) for patients with Parkinson's…”
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MOG antibody‐related disorder associated with peripheral facial nerve palsy by Morishima, Yuto, Satake, Akane, Hata, Takanori, Koh, Kishin, Nagasaka, Takamura, Takahashi, Toshiyuki, Shindo, Kazumasa, Takiyama, Yoshihisa

“…A 44‐year‐old Japanese woman exhibited neurological symptoms including unsteadiness of gait, headache, hypoesthesia of the left face, and left‐sided peripheral…”
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Pre- and postganglionic vasomotor dysfunction causes distal limb coldness in multiple system atrophy by Shindo, Kazumasa, Tsuchiya, Mai, Ichinose, Yuta, Koh, Kishin, Hata, Takanori, Yamashiro, Nobuo, Kobayashi, Fumikazu, Nagasaka, Takamura, Takiyama, Yoshihisa

“…The detailed pathophysiology of limb coldness in multiple system atrophy (MSA) is unknown. We evaluated cutaneous vasomotor neural function in 18 MSA patients…”
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Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report by Hata, Takanori, Nagasaka, Takamura, Koh, Kishin, Tsuchiya, Mai, Ichinose, Yuta, Nan, Haitian, Shindo, Kazumasa, Takiyama, Yoshihisa

“…Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle…”
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Thymoma-associated anti-LGI1 encephalitis and myasthenia gravis: A unique combination with autoantibodies by Satake, Akane, Nagasaka, Takamura, Kurita, Takafumi, Murata, Hiroaki, Hata, Takanori, Shinmura, Hiroyuki, Matsubara, Hirochika, Shindo, Kazumasa, Takiyama, Yoshihisa

“…We report a 77-year-old woman with a thymoma, anti-LGI1antibody associated encephalitis (LGI1 encephalitis), and MG accompanied by positive anti-acetylcholine…”
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Parkinson’ s disease complicated after 12 years from the onset of multiple sclerosis by Shindo, Kazumasa, Morishima, Yuto, Hata, Takanori, Nakajima, Sho, Ueno, Yuji

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Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: A case report and literature review by Shindo, Kazumasa, Tsuchiya, Mai, Hata, Takanori, Ichinose, Yuta, Koh, Kishin, Sone, Jun, Nagasaka, Takamura, Sobue, Gen, Takiyama, Yoshihisa

“…Abstract We report a case of neuronal intranuclear inclusion disease (NIID) confirmed by detection of intranuclear inclusions in a skin biopsy specimen. Brain…”
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Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene by Nagasaka, Takamura, Hata, Takanori, Shindo, Kazumasa, Adachi, Yoshiki, Takeuchi, Megumi, Saito, Kayoko, Takiyama, Yoshihisa

“…Abstract We investigated the immunohistochemical localization of several proteins related to excitation-contraction coupling and ultrastructural alterations of…”
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