Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay-Reference-Cited by-同舟云学术

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Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Published:2014-09-17 Issue:3 Volume:30 Page:687-694
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Ben-Salem Salma,Gleeson Joseph G.,Al-Shamsi Aisha M.,Islam Barira,Hertecant Jozef,Ali Bassam R.,Al-Gazali Lihadh

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s11011-014-9618-0.pdf

Reference31 articles.

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2. Akawi NA, Al-Jasmi F, Al-Shamsi AM, Ali BR, Al-Gazali L (2013) LINS, a modulator of the WNT signaling pathway, is involved in human cognition. Orphanet J Rare Dis 8:87

3. Al-Gazali L, Ali BR (2010) Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Hum Mutat 31:505–520

4. Andero R, Brothers SP, Jovanovic T, Chen YT, Salah-Uddin H, Cameron M, Bannister TD, Almli L, Stevens JS, Bradley B, Binder EB, Wahlestedt C, Ressler KJ (2013) Amygdala-dependent fear is regulated by Oprl1 in mice and humans with PTSD. Sci Transl Med 5(188):188ra73.

5. Biesecker LG, Shianna KV, Mullikin JC (2011) Exome sequencing: the expert view. Genome Biol 12:128

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3. A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review;Molecular Genetics & Genomic Medicine;2024-03-28

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