Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures-Reference-Cited by-同舟云学术

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

Published:2018-11 Issue:6 Volume:6 Page:1255-1260
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Elbracht Miriam¹,Kraft Florian¹,Begemann Matthias¹,Holschbach Petra²,Mull Michael³,Kabat Ildiko M.⁴,Müller Britta²,Häusler Martin²,Kurth Ingo¹^ORCID,Hehr Ute⁵

Affiliation:

1. Institute of Human Genetics, Medical Faculty; RWTH Aachen University; Aachen Germany

2. Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty; RWTH Aachen University; Aachen Germany

3. Department of Diagnostic and Interventional Neuroradiology, Medical Faculty; RWTH Aachen University; Aachen Germany

4. Department of Radiology, Radiologie Universität Bonn Ildiko M. Kabat; University Hospital Bonn; Bonn Germany

5. Department of Human Genetics, Medical Center; University of Regensburg; Regensburg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.490/fullpdf

Reference13 articles.

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2. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia;Broix;Nature Genetics,2016

3. Nedd4-2 (NEDD4L) controls intracellular Na(+)-mediated activity of voltage-gated sodium channels in primary cortical neurons;Ekberg;The Biochemical Journal,2014

4. Structural basis of the activation and degradation mechanisms of the E3 ubiquitin ligase Nedd4L;Escobedo;Structure,2014

5. Nodular heterotopia is built upon layers;Ferland;Neurology,2009

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1. Cortical Neuron Migration in Health and Disease;Neocortical Neurogenesis in Development and Evolution;2023-08-08

2. Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary;Molecular Genetics & Genomic Medicine;2023-03-19

3. Ophthalmic Findings Associated with NEDD4L-related Disorder;Journal of American Association for Pediatric Ophthalmology and Strabismus;2022-06

4. E3 ubiquitin ligases and cerebral cortex development in health and disease;Developmental Neurobiology;2022-05-09

5. Genetic causes underlying grey matter heterotopia;European Journal of Paediatric Neurology;2021-11