J. Mahé

RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation

G. Stevanin, S. Mercier, Y. Péréon, 2020, Movement disorders : official journal of the Movement Disorder Society.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

A. Munnich, D. Figarella-Branger, S. Küry, 2015, Orphanet Journal of Rare Diseases.