Associated Papers
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler HS et al.
American Journal of Medical Genetics. Part A, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
Woods JD et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Lornage X et al.
Acta Neuropathologica Communications, 2019
Select a paper to view details