output
20062023
most citedHomozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms

97 citations

researchers with a paper here

Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.

collaborating institutions

3 papers

cs.CC2023★ 4 cited

Configuring an heterogeneous smartgrid network: complexity and approximations for tree topologies

Dominique Barth, Thierry Mautor, Dimitri Watel +1

We address the problem of configuring a power distribution network with reliability and resilience objectives by satisfying the demands of the consumers and saturating each product…

q-bio.BM2020★ 97 cited

Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms

Vincent Huin, Mathieu Barbier, Armand Bottani +18

Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar atax…

q-bio.NC2006★ 2 cited

Cerebellar Purkinje Cell Loss in Heterozygous Rora+/-Mice: A Longitudinal Study

Mohamed Doulazmi, Francesca Capone, Florence Frederic +3

The staggerer (sg/sg) mutation is a spontaneous deletion in the Rora gene that prevents the translation of the ligand-binding domain (LBD), leading to the loss of RORαactivity. The…