Manon Boivin

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

Zhaoxia Wang, M. Oulad-Abdelghani, P. Koebel, 2021, Neuron.

A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.

S. Viville, N. Charlet-Berguerand, O. Okutman, 2022, Human reproduction.

Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

N. Charlet-Berguerand, Manon Boivin, 2022, Frontiers in Genetics.

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

L. Negroni, C. Sellier, V. Pfister, 2020, The EMBO journal.

Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

R. Willemsen, C. Sellier, R. Hukema, 2017, European journal of medical genetics.