E-LIB Suche - Ergebnisse für: Jacquier, Arnaud

1

Nucleolar reorganization after cellular stress is orchestra..:

Musawi, Shaqraa ; Donnio, Lise-Marie ; Zhao, Zehui...
Nature Communications. 14 (2023) 1 - p. , 2023

2

Repurposing pentamidine using hyaluronic acid-based nanocar..:

Repellin, Mathieu ; Carton, Flavia ; Boschi, Federico...
Nanomedicine: Nanotechnology, Biology and Medicine. 47 (2023) - p. 102623 , 2023

Link: https://doi.org/10.1016/..

3

Reply: Biallelic variants in the COQ7 gene cause distal her..:

Jacquier, Arnaud ; Theuriet, Julian ; Ribault, Shams...
Brain. 146 (2023) 5 - p. e31-e32 , 2023

Link: https://doi.org/10.1093/..

4

Genetic characterization of non-5q proximal spinal muscular..:

Theuriet, Julian ; Fernandez-Eulate, Gorka ; Latour, Philippe...
European Journal of Human Genetics. 32 (2023) 1 - p. 37-43 , 2023

Link: https://doi.org/10.1038/..

5

Novel Intronic Mutation in VMA21 Causing Severe Phenotype o..:

Pegat, Antoine ; Streichenberger, Nathalie ; Lacoste, Nicolas...
Genes. 13 (2022) 12 - p. 2245 , 2022

Link: https://doi.org/10.3390/..

6

Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in..:

Jacquier, Arnaud ; Roubille, Simon ; Lomonte, Patrick.
Frontiers in Cellular Neuroscience. 16 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

Expanding the phenotypic variability ofMORC2gene mutations:..:

Jacquier, Arnaud ; Ribault, Shams ; Mendes, Michel...
Human Mutation. 43 (2022) 12 - p. 1898-1908 , 2022

Link: https://doi.org/10.1002/..

8

Homozygous COQ7 mutation: a new cause of potentially treata..:

Jacquier, Arnaud ; Theuriet, Julian ; Fontaine, Fanny...
Brain. 146 (2022) 8 - p. 3470-3483 , 2022

Link: https://doi.org/10.1093/..

9

Severe congenital myasthenic syndromes caused by agrin muta..:

Jacquier, Arnaud ; Risson, Valérie ; Simonet, Thomas...
Acta Neuropathologica. 144 (2022) 4 - p. 707-731 , 2022

Link: https://doi.org/10.1007/..

10

Charcot-Marie-Tooth disease type 2CC due toNEFHvariants cau..:

Pipis, Menelaos ; Cortese, Andrea ; Polke, James M...
Journal of Neurology, Neurosurgery & Psychiatry. 93 (2021) 1 - p. 48-56 , 2021

Link: https://doi.org/10.1136/..

11

Systematic elucidation of neuron-astrocyte interaction in m..:

Mishra, Vartika ; Re, Diane B. ; Le Verche, Virginia...
Nature Communications. 11 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

12

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecti..

JoVE : Neuroscience

Jacquier, Arnaud ; Risson, Valérie ; Schaeffer, Laurent , 2019

Link: https://www.jove.com/t/5..

13

Novel combinatorial screening identifies neurotrophic facto..:

Schaller, Sébastien ; Buttigieg, Dorothée ; Alory, Alysson...
Proceedings of the National Academy of Sciences. 114 (2017) 12 - p. , 2017

Link: https://doi.org/10.1073/..

14

Cryptic amyloidogenic elements in mutant NEFH causing Charc..:

Jacquier, Arnaud ; Delorme, Cécile ; Belotti, Edwige...
Acta Neuropathologica Communications. 5 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

15

Novel combinatorial screening identifies neurotrophic facto..:

Schaller, Sébastien ; Buttigieg, Dorothée ; Alory, Alysson...
Proceedings of the National Academy of Sciences of the United States of America. 114 (2017) 12 - p. E2486-E2493 , 2017

Link: https://www.jstor.org/st..