Search Results - "Hirunagi, Tomoki"

Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy by Ogura, Yosuke, Sahashi, Kentaro, Hirunagi, Tomoki, Iida, Madoka, Miyata, Takaki, Katsuno, Masahisa

“…Spinal and bulbar muscular atrophy (SBMA) is an adult-onset hereditary neurodegenerative disease caused by the expansions of CAG repeats in the androgen…”
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Acute bilateral hypotropia and esotropia complex as first manifestation of multiple sclerosis: a case report by Senda, Joe, Hirao, Ryota, Maeda, Kentaro, Amakusa, Yoshinobu, Hirunagi, Tomoki, Katsuno, Masahisa, Kawaguchi, Katsuhiro

“…A 21-year-old Japanese woman presented with sudden eye movement disorders. An ophthalmic examination revealed bilateral hypotropia and esotropia complex. Brain…”
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Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders by Hirunagi, Tomoki, Sahashi, Kentaro, Meilleur, Katherine G, Katsuno, Masahisa

“…The recent advances in nucleic acid therapeutics demonstrate the potential to treat hereditary neurological disorders by targeting their causative genes…”
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Exercise attenuates polyglutamine‐mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy by Hirunagi, Tomoki, Nakatsuji, Hideaki, Sahashi, Kentaro, Yamamoto, Mikiyasu, Iida, Madoka, Tohnai, Genki, Kondo, Naohide, Yamada, Shinichiro, Murakami, Ayuka, Noda, Seiya, Adachi, Hiroaki, Sobue, Gen, Katsuno, Masahisa

“…Background Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by the expansion of trinucleotide cytosine–adenine–guanine…”
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Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS by Hirunagi, Tomoki, Sahashi, Kentaro, Tachikawa, Kiyoshi, Leu, Angel I., Nguyen, Michelle, Mukthavaram, Rajesh, Karmali, Priya P., Chivukula, Padmanabh, Tohnai, Genki, Iida, Madoka, Onodera, Kazunari, Ohyama, Manabu, Okada, Yohei, Okano, Hideyuki, Katsuno, Masahisa

“…Polyglutamine (polyQ) diseases are inherited neurodegenerative disorders caused by expansion of cytosine-adenine-guanine (CAG)-trinucleotide repeats in…”
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Anti‐Mi‐2 antibody‐positive inflammatory myopathy during treatment with golimumab by Hirunagi, Tomoki, Goto, Yoji, Mano, Kazuo

“…A 56‐year‐old woman, who was treated with golimumab for rheumatoid arthritis, presented with myalgia and rash. She had proximal limbs weakness, and…”
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Trousseau's Syndrome due to Anaplastic Thyroid Carcinoma Presenting with Multiple Ischemic Strokes by Hirunagi, Tomoki, Kiriyama, Ayami, Fujino, Masahiko, Goto, Yoji, Mano, Kazuo

“…Trousseau's syndrome is characterized by a cerebral or systemic thromboembolism caused by coagulation abnormalities in malignancy. We herein report a case of…”
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Aggregatibacter segnis endocarditis mimicking antineutrophil cytoplasmic antibody-associated vasculitis presenting with cerebral hemorrhage: a case report by Hirunagi, Tomoki, Kawanishi, Hiroshi, Mitsuma, Norimasa, Goto, Yoji, Mano, Kazuo

“…A 56-year-old man who underwent a tooth extraction in the previous year presented with weakness of the right upper extremity. Brain CT and MRI scans showed…”
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Subacute cerebellar ataxia with amphiphysin antibody developing in a patient with follicular thyroid adenoma: a case report by Hirunagi, Tomoki, Sato, Katsunori, Fujino, Masahiko, Tanaka, Keiko, Goto, Yoji, Mano, Kazuo

“…The patient was a 61-year-old woman with thyroid enlargement since her 20s. She began to fall down repeatedly towards the end of June 2015. She was admitted to…”
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Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy by Kataoka, Mayumi, Sahashi, Kentaro, Tsujikawa, Koyo, Takeda, Jun-ichi, Hirunagi, Tomoki, Iida, Madoka, Katsuno, Masahisa

“…Lower motor neuron degeneration is the pathological hallmark of spinal muscular atrophy (SMA), a hereditary motor neuron disease caused by loss of the SMN1…”
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α‐Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid‐Binding Property by Daida, Kensuke, Shimonaka, Shotaro, Shiba‐Fukushima, Kahori, Ogata, Jun, Yoshino, Hiroyo, Okuzumi, Ayami, Hatano, Taku, Motoi, Yumiko, Hirunagi, Tomoki, Katsuno, Masahisa, Shindou, Hideo, Funayama, Manabu, Nishioka, Kenya, Hattori, Nobutaka, Imai, Yuzuru

“…ABSTRACT Background The α‐Synuclein (α‐Syn) V15A variant has been found in two Caucasian families with Parkinson's disease (PD). However, the significance of…”
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Elderly-onset familial myasthenia gravis in two siblings by Hirunagi, Tomoki, Tsujikawa, Koyo, Hasegawa, Yasuhiro, Mano, Kazuo, Katsuno, Masahisa

“…Highlights • We report two siblings' cases of elderly-onset MG sharing the common HLA haplotypes. • These cases indicate that elderly-onset MG can occur in a…”
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