Disease: Filaminopathy- autosomal dominant
- A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients
- A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report
- Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
- Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy
- Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese
- Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors
- Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
- Diagnostic impact of myotonic discharges in myofibrillar myopathies
- First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC
- FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data
- Heterogeneity of platelet functional alterations in patients with filamin A mutations
- Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
- Myofibrillar instability exacerbated by acute exercise in filaminopathy
- Myofibrillar Myopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Myopathies with finger flexor weakness: Not only inclusion-body myositis
- Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia
- Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
- Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function