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
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
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
Pelizzo G et al.
Bmc Pediatrics, 2019
A review of filamin A mutations and associated interstitial lung disease.
Sasaki E et al.
European Journal of Pediatrics, 2019
Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification.
Shelmerdine SC et al.
Pediatric Pulmonology, 2017
Lung Transplantation for FLNA-Associated Progressive Lung Disease.
Burrage LC et al.
The Journal of Pediatrics, 2017
Lung disease associated with filamin A gene mutation: a case report.
Eltahir S et al.
Journal of Medical Case Reports, 2016
Filamin A mutation may be associated with diffuse lung disease mimicking bronchopulmonary dysplasia in premature newborns.
Lord A et al.
Respiratory Care, 2014
FLNA genomic rearrangements cause periventricular nodular heterotopia.
Clapham KR et al.
Neurology, 2012
Combined cardiological and neurological abnormalities due to filamin A gene mutation.
de Wit MC et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2011
Lung disease in FLNA mutation: confirmatory report.
de Wit MC et al.
European Journal of Medical Genetics, 0
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