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
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
Gerlevik U et al.
Plos One, 2022
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Billon C et al.
Orphanet Journal of Rare Diseases, 2021
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
Novel no-stop FLNA mutation causes multi-organ involvement in males.
Oegema R et al.
American Journal of Medical Genetics. Part A, 2013
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Fergelot P et al.
European Journal of Medical Genetics, 2012
Select a paper to view details