Eric Samarut
8PUBLICATIONS
36CO-AUTHORS
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Publications (8)
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|Mar 13, 2026
Ultra-rare biallelic <i>THAP12</i> variants cause loss of function and underlie severe epileptic encephalopathy.Katarzyna Ochenkowska, Bryce Rampal, Antoine Légaré
|Feb 06, 2026
Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDG.Hiba Daghar, Seul Kee Byeon, Claudia Maios
|Jan 23, 2026
CHK1 inhibition rescues abnormal glycogen buildup in a Caenorhabditis elegans model for glycogen storage disease III.Hiba Daghar, Blake Pyman, Claudia Maios
|Jul 02, 2025
RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum.Fanny Nobilleau, Sébastien Audet, Alexandra da Silva Babinet
|Jan 13, 2024
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.Stephanie Efthymiou, Marcello Scala, Vini Nagaraj
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Frequent Collaborators
2 joint publications
J Alex Parker
2 joint publications
Hiba Daghar
1 joint publications
Uday Kundap
1 joint publications
Richard E Rosch
1 joint publications
Bouchra Ouled Amar Bencheikh
1 joint publications
Stephanie Efthymiou
1 joint publications
Marcello Scala
1 joint publications
Barbara Vona
1 joint publications
Martine Tétreault
1 joint publications
Fowzan S Alkuraya