SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure
Author:
Affiliation:
1. Department of Pediatric; College of Medicine and Health Science; United Arab Emirates University; Al Ain UAE
2. Department of Pediatric; Mafraq Hospital; Abu Dhabi UAE
Funder
United Arab Emirates University
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.341/fullpdf
Reference11 articles.
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2. Phosphoinositides in cell regulation and membrane dynamics;Di Paolo;Nature,2006
3. Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms;Drouet;BioMed Research International,2014
4. Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology;Dyment;Neurobiology of Aging,2015
5. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline;Hardies;Brain,2016
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