Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry
Author:
Publisher
Elsevier BV
Subject
Behavioral Neuroscience,Neurology (clinical),Neurology
Reference13 articles.
1. Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome;Mao;Dis Model Mech,2021
2. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly;Yoneda;Ann Neurol,2013
3. Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease;Zagaglia;Neurology,2018
4. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke;Sibon;Ann Neurol,2007
5. Ophthalmological features associated with COL4A1 mutations;Coupry;Arch Ophthalmol,2010
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1. Collagen IV of basement membranes: IV. Adaptive mechanism of collagen IV scaffold assembly in Drosophila;Journal of Biological Chemistry;2023-12
2. Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology;Nature Reviews Neurology;2023-08-03
3. Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant;American Journal of Case Reports;2023-04-03
4. Elevated TGFβ signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome;Matrix Biology;2023-01
5. Lysyl hydroxylase 3–mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV);Journal of Biological Chemistry;2022-12
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