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
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
Cannaerts E et al.
Bmc Medical Genetics, 2018
47 patients with FLNA associated periventricular nodular heterotopia.
Lange M et al.
Orphanet Journal of Rare Diseases, 2015
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
Structure of the human filamin A actin-binding domain.
Ruskamo S et al.
Acta Crystallographica. Section D, Biological Crystallography, 2009
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.
Gérard-Blanluet M et al.
American Journal of Medical Genetics. Part A, 2006
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Guerrini R et al.
Neurology, 2004
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
Moro F et al.
Neurology, 2002
Select a paper to view details