Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
'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
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).
Töpf A et al.
European Journal of Human Genetics : Ejhg, 2021
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
Select a paper to view details