Associated Papers
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J et al.
Biorxiv : the Preprint Server for Biology, 2023
38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants
Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.
Yang L et al.
Bmc Pediatrics, 2023
Structural basis of the filamin A actin-binding domain interaction with F-actin.
Iwamoto DV et al.
Nature Structural & Molecular Biology, 2018
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
Clark AR et al.
Human Molecular Genetics, 2009
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Parrini E et al.
Brain : a Journal of Neurology, 2006
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.
Sheen VL et al.
Clinical Medicine & Research, 2005
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Sheen VL et al.
Neurology, 2005
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