E. Vial

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1999, Biochimica et biophysica acta.

Detection of heterozygousSMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

N. Drouot, A. Munnich, T. Frebourg, 2001, Journal of medical genetics.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

A. Munnich, K. Bushby, R. Adams, 2002, Annals of neurology.

PYCR1 Levels Track with Premature and Chronological Skin Aging

O. Dreesen, S. Nampoothiri, P. Lai, 2023, medRxiv.