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名词信息
中 文 名:
管聚集性肌病
英 文 名:
myopathy with tubular aggregate
中文又称:
中文曾称:
名词来源:
所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
myopathy with tubular aggregate
相关文献:
Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case.
Baille G, Severa G, Verebi C, Carlier RY, Malfatti E.
Acta Myol. 2024 Dec;43(4):130-133. doi: 10.36185/2532-1900-675.
PMID:40017288
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J.
Hum Mutat. 2020 Jan;41(1):17-37. doi: 10.1002/humu.23899. Epub 2019 Sep 15.
PMID:31448844
Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Lee JM, Noguchi S.
Int J Mol Sci. 2016 Nov 22;17(11):1952. doi: 10.3390/ijms17111952.
PMID:27879676
An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.
Zhao N, Michelucci A, Pietrangelo L, Malik S, Groom L, Leigh J, O'Connor TN, Takano T, Kingsley PD, Palis J, Boncompagni S, Protasi F, Dirksen RT.
EMBO J. 2024 Dec;43(23):5941-5971. doi: 10.1038/s44318-024-00273-4. Epub 2024 Oct 17.
PMID:39420094
Tubular aggregate myopathy causing progressive fatiguable weakness.
Fan Q, Gwathmey K, Du X, Seth A, Corse A.
Pract Neurol. 2024 Mar 19;24(2):137-140. doi: 10.1136/pn-2023-003838.
PMID:37923376
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.
Silva-Rojas R, Pérez-Guàrdia L, Simon A, Djeddi S, Treves S, Ribes A, Silva-Hernández L, Tard C, Laporte J, Böhm J.
JCI Insight. 2024 Mar 5;9(6):e174866. doi: 10.1172/jci.insight.174866.
PMID:38516893
Tubular aggregate myopathy mutant unveils novel activation and inactivation mechanisms of Orai1.
Derler I, Romanin C.
Cell Calcium. 2023 Jun;112:102739. doi: 10.1016/j.ceca.2023.102739. Epub 2023 Apr 7.
PMID:37058922
Necrotizing autoimmune myopathy with tubular aggregates.
Madigan NN, Liewluck T, Milone M, Naddaf E.
Neurology. 2019 Aug 13;93(7):313-314. doi: 10.1212/WNL.0000000000007952.
PMID:31405936
Store-operated calcium entry: From physiology to tubular aggregate myopathy.
Protasi F, Girolami B, Roccabianca S, Rossi D.
Curr Opin Pharmacol. 2023 Feb;68:102347. doi: 10.1016/j.coph.2022.102347. Epub 2023 Jan 4.
PMID:36608411
Sweat retention anhidrosis associated with tubular aggregate myopathy.
Ishitsuka Y, Inoue S, Furuta J, Koguchi-Yoshioka H, Nakamura Y, Watanabe R, Okiyama N, Fujisawa Y, Enokizono T, Fukushima H, Suzuki H, Nishino I, Kosaki K, Fujimoto M.
Br J Dermatol. 2019 Nov;181(5):1104-1106. doi: 10.1111/bjd.18175. Epub 2019 Aug 21.
PMID:31145807
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