E-LIB Suche - Ergebnisse für: Lebigot, Élise

1

A novel mutation in the NR3C1 gene associated with reversib..:

Laulhé, Margaux ; Kuhn, Emmanuelle ; Bouligand, Jérôme...
European Journal of Endocrinology. 190 (2024) 4 - p. 284-295 , 2024

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

2

Primary mitochondrial disorders and mimics: Insights from a..:

Rouzier, Cécile ; Pion, Emmanuelle ; Chaussenot, Annabelle...
Annals of Clinical and Translational Neurology. 11 (2024) 6 - p. 1478-1491 , 2024

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

3

Elevated MCHC reveals a Southeast Asian Ovalocytosis:

Souissi, Maïssa ; Daliphard, Sylvie ; Picard, Véronique...
American Journal of Hematology. 99 (2023) 2 - p. 331-332 , 2023

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

4

UQCRC2-related mitochondrial complex III deficiency, about ..:

Bansept, Claire ; Gaignard, Pauline ; Lebigot, Elise...
Mitochondrion. 68 (2023) - p. 138-144 , 2023

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

5

Author Correction: CBP-HSF2 structural and functional inter..:

de Thonel, Aurélie ; Ahlskog, Johanna K. ; Daupin, Kevin...
Nature Communications. 14 (2023) 1 - p. , 2023

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

6

Movement disorders in valine métabolism diseases caused by ..:

François‐Heude, Marie‐Céline ; Lebigot, Elise ; Roze, Emmanuel...
European Journal of Neurology. 29 (2022) 11 - p. 3229-3242 , 2022

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

7

MPC2variants disrupt mitochondrial pyruvate metabolism and ..:

Pujol, Claire ; Lebigot, Elise ; Gaignard, Pauline...
Brain. 146 (2022) 3 - p. 858-864 , 2022

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

8

CBP-HSF2 structural and functional interplay in Rubinstein-..:

de Thonel, Aurélie ; Ahlskog, Johanna K. ; Daupin, Kevin...
Nature Communications. 13 (2022) 1 - p. , 2022

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

9

Fructose‐1,6‐bisphosphatase deficiency causes fatty liver d..:

Gorce, Magali ; Lebigot, Elise ; Arion, Alina...
Journal of Inherited Metabolic Disease. 45 (2021) 2 - p. 215-222 , 2021

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

10

Galaxy Is a Suitable Bioinformatics Platform for the Molecu..:

Chappell, Kenneth ; Francou, Bruno ; Habib, Christophe...
Clinical Chemistry. 68 (2021) 2 - p. 313-321 , 2021

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

11

A Review of Multiple Mitochondrial Dysfunction Syndromes, S..:

Lebigot, Elise ; Schiff, Manuel ; Golinelli-Cohen, Marie-Pierre
Biomedicines. 9 (2021) 8 - p. 989 , 2021

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

12

Enteral tube feeding in patients receiving dietary treatmen..:

Bérat, Claire-Marine ; Roda, Célina ; Brassier, Anais...
Molecular Genetics and Metabolism Reports. 26 (2021) - p. 100655 , 2021

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

13

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase c..:

Hengel, Holger ; Bosso-Lefèvre, Célia ; Grady, George...
Nature Communications. 11 (2020) 1 - p. , 2020

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

14

Recurrent Liver Failure in an 11-Year-Old Boy:

Neveu, Julien ; Hoebeke, Célia ; Lebigot, Elise.
Clinical Chemistry. 66 (2020) 8 - p. 1115-1117 , 2020

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

15

Mitochondrial dysfunction caused by novel ATAD3A mutations:

Dorison, Nathalie ; Gaignard, Pauline ; Bayot, Aurélien...
Molecular Genetics and Metabolism. 131 (2020) 1-2 - p. 107-113 , 2020

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