Novel variants causing megalencephalic leukodystrophy in Sudanese families-Reference-Cited by-同舟云学术

Novel variants causing megalencephalic leukodystrophy in Sudanese families

Published:2021-09-10 Issue: Volume: Page:
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Amin Mutaz,Vignal Cedric,Hamed Ahlam A. A.,Mohammed Inaam N.,Elseed Maha A.,Drunat Severine,Babai Arwa,Eltaraifee Esraa,Elbadi Iman,Abubaker Rayan,Mustafa Doaa,Yahia Ashraf,Koko Mahmoud,Osman Melka,Bakhit Yousuf,Elshafea Azza,Alsiddig Mohamed,Haroun Sahwah,Lelay Gurvan,Elsayed Liena E. O.,Ahmed Ammar E.,Boespflug-Tanguy Odile,Dorboz Imen

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://www.nature.com/articles/s10038-021-00945-7.pdf

Reference28 articles.

1. Bajaj SK, Misra R, Gupta R, Chandra R, Malik A. Megalencephalic leukoencephalopathy with sub cortical cysts: an inherited dysmyelinating disorder. J Pediatr Neurosci. 2013;8:77–80.

2. van der Knaap MS, Abbink TE, Min R Megalencephalic leukoencephalopathy with subcortical cysts. GeneReviews®. University of Washington, Seattle; 1993.

3. Hamilton EMC, Tekturk P, Cialdella F, Rappard DF, van, Wolf NI, Yalcinkaya C. et al. Megalencephalic leukoencephalopathy with subcortical cysts. Neurology. 2018;90:e1395–e1403.

4. López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, et al. Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. Hum Mol Genet. 2011;20:3266–77. https://doi.org/10.1093/hmg/ddr238.

5. López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S. et al. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet. 2011;88:422–32.

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature;Frontiers in Genetics;2024-02-29

2. Consanguinity and willingness to perform premarital genetic screening in Sudan;European Journal of Human Genetics;2023-08-01

3. Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations;Neurology Genetics;2023-06

4. Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease;Mutation Research/Reviews in Mutation Research;2022-07

5. Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts;Journal of Child Neurology;2022-03-24