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
Sinus of Valsalva Aneurysm in Females.
Wang Y et al.
International Heart Journal, 2022
Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology.
Tsujikawa K et al.
Science Advances, 2022
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
Structural basis of the filamin A actin-binding domain interaction with F-actin.
Iwamoto DV et al.
Nature Structural & Molecular Biology, 2018
Ehlers-Danlos syndromes and epilepsy: An updated review.
Cortini F et al.
Seizure, 2018
Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
Chen MH et al.
American Journal of Medical Genetics. Part A, 2018
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Fergelot P et al.
European Journal of Medical Genetics, 2012
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
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
Solé G et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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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