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名词信息
中 文 名:
帝莫西综合征
英 文 名:
Timothy syndrome
中文又称:
Timothy综合征
中文曾称:
名词来源:
所属专业:
心内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
Timothy syndrome
相关文献:
Timothy syndrome iPSC modeling.
Bekdash R, Klein AD, Yazawa M.
Mol Cell Neurosci. 2020 Sep;107:103529. doi: 10.1016/j.mcn.2020.103529. Epub 2020 Jul 3.
PMID:32629111
Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Chen X, Birey F, Li MY, Revah O, Levy R, Thete MV, Reis N, Kaganovsky K, Onesto M, Sakai N, Hudacova Z, Hao J, Meng X, Nishino S, Huguenard J, Pașca SP.
Nature. 2024 Apr;628(8009):818-825. doi: 10.1038/s41586-024-07310-6. Epub 2024 Apr 24.
PMID:38658687
Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome.
Birey F, Li MY, Gordon A, Thete MV, Valencia AM, Revah O, Paşca AM, Geschwind DH, Paşca SP.
Cell Stem Cell. 2022 Feb 3;29(2):248-264.e7. doi: 10.1016/j.stem.2021.11.011. Epub 2022 Jan 5.
PMID:34990580
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C, Zhang Y.
Expert Rev Mol Med. 2023 May 3;25:e17. doi: 10.1017/erm.2023.11.
PMID:37132248
Update on the Molecular Genetics of Timothy Syndrome.
Bauer R, Timothy KW, Golden A.
Front Pediatr. 2021 May 17;9:668546. doi: 10.3389/fped.2021.668546. eCollection 2021.
PMID:34079780
CACNA1C-Related Channelopathies.
Herold KG, Hussey JW, Dick IE.
Handb Exp Pharmacol. 2023;279:159-181. doi: 10.1007/164_2022_624.
PMID:36598608
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
Sepp R, Hategan L, Bácsi A, Cseklye J, Környei L, Borbás J, Széll M, Forster T, Nagy I, Hegedűs Z.
Am J Med Genet A. 2017 Mar;173(3):784-789. doi: 10.1002/ajmg.a.38084.
PMID:28211989
Assembly of functionally integrated human forebrain spheroids.
Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N, O'Rourke NA, Steinmetz LM, Bernstein JA, Hallmayer J, Huguenard JR, Paşca SP.
Nature. 2017 May 4;545(7652):54-59. doi: 10.1038/nature22330. Epub 2017 Apr 26.
PMID:28445465
Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.
Marcantoni A, Calorio C, Hidisoglu E, Chiantia G, Carbone E.
Pflugers Arch. 2020 Jul;472(7):775-789. doi: 10.1007/s00424-020-02430-0. Epub 2020 Jul 3.
PMID:32621084
ASO to treat Timothy syndrome.
Crunkhorn S.
Nat Rev Drug Discov. 2024 Jun;23(6):420. doi: 10.1038/d41573-024-00075-7.
PMID:38714847
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