Associated Papers
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
Frongia I et al.
Journal of Neuromuscular Diseases, 2024
38143368 (PubMed )
Supplement: jnd-11-jnd230110-s001.xlsx › Foglio1
The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.
Oliveira J et al.
Clinical Genetics, 2017
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Davignon L et al.
Human Molecular Genetics, 2016
Select a paper to view details