Suppr超能文献

Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.

作者信息

Ibáñez-Micó S, Domingo Jiménez R, Pérez-Cerdá C, Ghandour-Fabre D

机构信息

Sección de Neuropediatría, Servicio de Pediatría, Hospital Virgen de la Arrixaca, Murcia, España.

Sección de Neuropediatría, Servicio de Pediatría, Hospital Virgen de la Arrixaca, Murcia, España.

出版信息

Neurologia (Engl Ed). 2019 Mar;34(2):139-141. doi: 10.1016/j.nrl.2017.05.002. Epub 2017 Jul 13.

Abstract
摘要

相似文献

1
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
Neurologia (Engl Ed). 2019 Mar;34(2):139-141. doi: 10.1016/j.nrl.2017.05.002. Epub 2017 Jul 13.
2
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
J Neurol Neurosurg Psychiatry. 2013 Oct;84(10):1119-25. doi: 10.1136/jnnp-2012-304716. Epub 2013 Feb 27.
3
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
Neuromuscul Disord. 2013 Jun;23(6):469-72. doi: 10.1016/j.nmd.2013.03.003. Epub 2013 Apr 13.
4
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11.
5
Congenital myasthenic syndrome caused by mutations in DPAGT.
Neuromuscul Disord. 2015 Mar;25(3):253-6. doi: 10.1016/j.nmd.2014.11.013. Epub 2014 Nov 26.
7
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Am J Hum Genet. 2012 Jul 13;91(1):193-201. doi: 10.1016/j.ajhg.2012.05.022. Epub 2012 Jun 27.
9
Novel PLEC gene variants causing congenital myasthenic syndrome.
Muscle Nerve. 2019 Dec;60(6):E40-E43. doi: 10.1002/mus.26703. Epub 2019 Oct 23.
10
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Neurology. 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9.

引用本文的文献

1
A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress.
PLoS Genet. 2022 Sep 27;18(9):e1010430. doi: 10.1371/journal.pgen.1010430. eCollection 2022 Sep.
2
DPAGT1-Mediated Protein -Glycosylation Is Indispensable for Oocyte and Follicle Development in Mice.
Adv Sci (Weinh). 2020 Jun 3;7(14):2000531. doi: 10.1002/advs.202000531. eCollection 2020 Jul.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验