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Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.
Mori-Yoshimura M, Yajima H, Oya Y, Mizuno K, Noguchi S, Nishino I, Takahashi Y. Mori-Yoshimura M, et al. Among authors: nishino i. BMJ Neurol Open. 2022 Dec 1;4(2):e000362. doi: 10.1136/bmjno-2022-000362. eCollection 2022. BMJ Neurol Open. 2022. PMID: 36483092 Free PMC article.
However, useful clinical parameters for postmarketing surveillance and long-term clinical observation have not yet been established. OBJECTIVE: We conducted a 5-year observational follow-up natural history study to identify evaluation parameters, which may be useful for th …
However, useful clinical parameters for postmarketing surveillance and long-term clinical observation have not yet been established. …
Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy.
Yoshioka N, Kurose M, Yano M, Tran DM, Okuda S, Mori-Ochiai Y, Horie M, Nagai T, Nishino I, Shibata S, Takebayashi H. Yoshioka N, et al. Among authors: nishino i. Elife. 2022 Aug 9;11:e78419. doi: 10.7554/eLife.78419. Elife. 2022. PMID: 35942699 Free PMC article.
Here, we demonstrate that the Dst-b isoform is essential for long-term maintenance of striated muscles....
Here, we demonstrate that the Dst-b isoform is essential for long-term maintenance of striated muscles....
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.
Yamamoto K, Ohashi K, Fujimoto M, Ieda D, Nakamura Y, Hattori A, Kaname T, Ieda K, Nishino I, Saitoh S. Yamamoto K, et al. Among authors: nishino i. Brain Dev. 2022 Sep;44(8):578-582. doi: 10.1016/j.braindev.2022.04.006. Epub 2022 May 6. Brain Dev. 2022. PMID: 35527075
The severity of SMA-LED2 varies widely, ranging from cases in which patients are able to walk to cases in which severe joint contractures lead to respiratory failure. In this study, we report the long-term course of a case of SMA-LED2 in comparison with previous reports. . …
The severity of SMA-LED2 varies widely, ranging from cases in which patients are able to walk to cases in which severe joint contractures le …
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT.
Amato AA, Hanna MG, Machado PM, Badrising UA, Chinoy H, Benveniste O, Karanam AK, Wu M, Tankó LB, Schubert-Tennigkeit AA, Papanicolaou DA, Lloyd TE, Needham M, Liang C, Reardon KA, de Visser M, Ascherman DP, Barohn RJ, Dimachkie MM, Miller JAL, Kissel JT, Oskarsson B, Joyce NC, Van den Bergh P, Baets J, De Bleecker JL, Karam C, David WS, Mirabella M, Nations SP, Jung HH, Pegoraro E, Maggi L, Rodolico C, Filosto M, Shaibani AI, Sivakumar K, Goyal NA, Mori-Yoshimura M, Yamashita S, Suzuki N, Aoki M, Katsuno M, Morihata H, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Zhang Auberson L; RESILIENT Study Extension Group. Amato AA, et al. Among authors: nishino i. Neurology. 2021 Mar 23;96(12):e1595-e1607. doi: 10.1212/WNL.0000000000011626. Epub 2021 Feb 17. Neurology. 2021. PMID: 33597289 Free PMC article. Clinical Trial.
OBJECTIVE: To assess long-term (2 years) effects of bimagrumab in participants with sporadic inclusion body myositis (sIBM). ...CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that for patients with sIBM, long-term treatment with bimagrumab was saf …
OBJECTIVE: To assess long-term (2 years) effects of bimagrumab in participants with sporadic inclusion body myositis (sIBM). ...CLASS …
[A case of colchicine myopathy in which the long-term use of colchicine hampered the recovery].
Takashima H, Hosoi Y, Bunai T, Watanabe K, Sugimoto M, Nishino I, Miyajima H. Takashima H, et al. Among authors: nishino i. Rinsho Shinkeigaku. 2021 Jan 29;61(1):47-50. doi: 10.5692/clinicalneurol.cn-001492. Epub 2020 Dec 15. Rinsho Shinkeigaku. 2021. PMID: 33328421 Japanese.
It was suggested that renal failure and muscle disuse had prevented the full recovery of her muscles in addition to the long-term use of colchicine. Typical colchicine myopathy improves rapidly, but the long-term use of colchicine is considered to cause muscle weakn …
It was suggested that renal failure and muscle disuse had prevented the full recovery of her muscles in addition to the long-term use …
Antimitochondrial Antibody-associated Myopathy with Slowly Progressive Cardiac Dysfunction.
Takahashi F, Sawada J, Minoshima A, Sakamoto N, Ono T, Akasaka K, Takei H, Nishino I, Hasebe N. Takahashi F, et al. Among authors: nishino i. Intern Med. 2021 Apr 1;60(7):1035-1041. doi: 10.2169/internalmedicine.5600-20. Epub 2020 Oct 28. Intern Med. 2021. PMID: 33116011 Free PMC article.
She was diagnosed with myopathy, accompanied by cardiomyopathy of unknown etiology. She was treated with prednisolone. After long-term follow-up and a detailed examination, the patient was diagnosed with antimitochondrial antibody (AMA)-associated myopathy with cardiac inv …
She was diagnosed with myopathy, accompanied by cardiomyopathy of unknown etiology. She was treated with prednisolone. After long-term …
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen.
Kumutpongpanich T, Owattanapanich W, Tanboon J, Nishino I, Boonyapisit K. Kumutpongpanich T, et al. Among authors: nishino i. Neuromuscul Disord. 2018 Jul;28(7):610-613. doi: 10.1016/j.nmd.2018.04.011. Epub 2018 May 16. Neuromuscul Disord. 2018. PMID: 29910095
The regimen may be considered as an alternative option for patients with sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance that are ineligible for upfront high-dose melphalan with autologous stem cell transplantation or that are being t …
The regimen may be considered as an alternative option for patients with sporadic late-onset nemaline myopathy with monoclonal gammopathy of …
Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.
Matsuoka T, Miwa Y, Tajika M, Sawada M, Fujimaki K, Soga T, Tomita H, Uemura S, Nishino I, Fukuda T, Sugie H, Kosuga M, Okuyama T, Umeda Y. Matsuoka T, et al. Among authors: nishino i. Mol Genet Metab Rep. 2016 Nov 18;9:98-105. doi: 10.1016/j.ymgmr.2016.11.001. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27896132 Free PMC article.
These results suggest that initiation of ERT during the pre-symptomatic period can prevent and/or attenuate the progression of IOPD, including cardiomyopathy, respiratory distress, and muscle weakness for first several years of ERT. However, to improve the long-term effica …
These results suggest that initiation of ERT during the pre-symptomatic period can prevent and/or attenuate the progression of IOPD, includi …
Multicenter questionnaire survey for sporadic inclusion body myositis in Japan.
Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata KY, Inamori Y, Matsui N, Kimura E, Kusaka H, Kondo T, Higuchi I, Kaji R, Tateyama M, Izumi R, Ono H, Kato M, Warita H, Takahashi T, Nishino I, Aoki M. Suzuki N, et al. Among authors: nishino i. Orphanet J Rare Dis. 2016 Nov 8;11(1):146. doi: 10.1186/s13023-016-0524-x. Orphanet J Rare Dis. 2016. PMID: 27821140 Free PMC article.
The mean length of time from the onset to diagnosis was 55.52 49.72 months, suggesting that there is a difficulty in diagnosing this disease with long-term consequences because of late treatment. 73 % described the psychological/mental aspect of the disease. ...
The mean length of time from the onset to diagnosis was 55.52 49.72 months, suggesting that there is a difficulty in diagnosing this disease …
Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy.
Ikeda K, Mori-Yoshimura M, Yamamoto T, Sonoo M, Suzuki S, Kondo Y, Nakamura H, Mitsuhashi K, Maeda MH, Shimizu J, Hayashi YK, Nishino I, Oya Y, Murata M. Ikeda K, et al. Among authors: nishino i. J Clin Neuromuscul Dis. 2016 Jun;17(4):197-206. doi: 10.1097/CND.0000000000000115. J Clin Neuromuscul Dis. 2016. PMID: 27224434
RESULTS: All 6 patients were initially diagnosed with muscular dystrophy because of the long-term clinical course and lack of inflammation on biopsy; 5 were diagnosed with FSHD based on a winged scapula. ...
RESULTS: All 6 patients were initially diagnosed with muscular dystrophy because of the long-term clinical course and lack of inflamm …
19 results