Cecilia Simonini

No ORCID on file · 1 paper in corpus · active 2022

Study types

  • case-report 1

Condition tags

  • endometriosis 1
case-report 2022
Duplication of exons 15 and 16 in Matrin-3: a phenotype bridging amyotrophic lateral sclerosis and immune-mediated disorders
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology ·doi:10.1007/s10072-021-05669-2

Mutations in Matrin-3 (MATR3) gene have been described in ALS, suggesting a role for this gene in the disease pathogenesis. While most of MATR3 mutations are point mutations, here we report the first case of ALS associated with duplication …