Marta G G de la Banda

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

J. Hoenicka, R. Carlier, H. Lochmüller, 2019, American journal of medical genetics. Part A.

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study

A. Verloes, J. Vallat, A. Echaniz-Laguna, 2021, neurogenetics.

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

C. Richelme, P. Sabouraud, S. Quijano-roy, 2020, Orphanet Journal of Rare Diseases.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow‐up

I. Pulido-Valdeolivas, R. Carlier, S. Quijano-roy, 2018, Muscle & nerve.

Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen

R. Carlier, S. Quijano-roy, C. Barnérias, 2020, Pediatric pulmonology.