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
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Knierim E et al.
American Journal of Human Genetics, 2016
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