E-LIB Suche - Ergebnisse für: Bernard, Emilien

1

A Novel De Novo Missense Mutation in KIF1A Associated with ..:

Bernard, Emilien ; Cluse, Florent ; Bohic, Adrien...
International Journal of Molecular Sciences. 25 (2024) 15 - p. 8170 , 2024

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

2

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/..

3

The new missense G376V-TDP-43 variant induces late-onset di..:

Zibold, Julia ; Lessard, Lola E R ; Picard, Flavien...
Brain. 147 (2023) 5 - p. 1768-1783 , 2023

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

4

Consensus d'experts sur les échelles et critères utilisés e..:

Verschueren, Annie ; Bernard, Emilien ; Cassereau, Julien..
Revue Neurologique. 179 (2023) - p. S141 , 2023

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

5

SORD‐related peripheral neuropathy in a French and Swiss co..:

Pons, Nicolas ; Fernández‐Eulate, Gorka ; Pegat, Antoine...
European Journal of Neurology. 30 (2023) 7 - p. 2001-2011 , 2023

Link: https://doi.org/10.1111/..

6

High rate of hypomorphic variants as the cause of inherited..:

Benkirane, Mehdi ; Marelli, Cecilia ; Guissart, Claire...
Genetics in Medicine. 23 (2021) 11 - p. 2160-2170 , 2021

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

7

Phenoconversion from Spastic Paraplegia to ALS/FTD Associat..:

Theuriet, Julian ; Pegat, Antoine ; Leblanc, Pascal...
Genes. 12 (2021) 12 - p. 1876 , 2021

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

8

Assessing the upper motor neuron in amyotrophic lateral scl..:

Grapperon, Aude-Marie ; Verschueren, Annie ; Jouve, Elisabeth...
Clinical Neurophysiology. 132 (2021) 10 - p. 2551-2557 , 2021

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

9

Adenovirus COVID‐19 Vaccines and Guillain–Barré Syndrome wi..:

Pegat, Antoine ; Vogrig, Alberto ; Khouri, Charles...
Annals of Neurology. 91 (2021) 1 - p. 162-163 , 2021

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

10

End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and ..:

Aloui, Chaker ; Hervé, Dominique ; Marenne, Gaelle...
Annals of Neurology. 90 (2021) 6 - p. 962-975 , 2021

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

11

Comparative diagnosis interest of NfL and pNfH in CSF and p..:

Escal, Jean ; Fourier, Anthony ; Formaglio, Maité...
Journal of Neurology. 269 (2021) 3 - p. 1522-1529 , 2021

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

12

The French national protocol for Kennedy's disease (SBMA): ..:

Pradat, Pierre-François ; on behalf of the French Kennedy's Disease Writing Group ; Bernard, Emilien...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

13

Clinical and Molecular Landscape of ALS Patients with SOD1 ..:

Bernard, Emilien ; Pegat, Antoine ; Svahn, Juliette...
International Journal of Molecular Sciences. 21 (2020) 18 - p. 6807 , 2020

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

14

Cas clinique 2 : cas d'une atteinte multitronculaire dans u..:

Brenière, Céline ; Pegat, Antoine ; Svahn, Juliette...
Revue Neurologique. 176 (2020) - p. S132-S133 , 2020

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

15

Clinical Phenotype and Inheritance in Patients With C9ORF72..:

Esselin, Florence ; Mouzat, Kevin ; Polge, Anne...
Frontiers in Neuroscience. 14 (2020) - p. , 2020

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