E-LIB Suche - Ergebnisse für: Boutron, Audrey

1

MPC2variants disrupt mitochondrial pyruvate metabolism and ..:

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

2

Prenatal sonographic description of fetuses affected by pyr..:

Egloff, Charles ; Eldin de Pecoulas, Aurelia ; Mechler, Charlotte...
Prenatal Diagnosis. 38 (2018) 8 - p. 607-616 , 2018

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

3

Carnitine palmitoyltransferase type 2 deficiency: novel mut..:

Avila-Smirnow, Daniela ; Boutron, Audrey ; Beytía-Reyes, María de Los Ángeles...
Journal of Medical Case Reports. 12 (2018) 1 - p. , 2018

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

4

Fluxomic assay-assisted diagnosis orientation in a cohort o..:

Fontaine, Monique ; Kim, Isabelle ; Dessein, Anne-Frédérique...
Molecular Genetics and Metabolism. 123 (2018) 4 - p. 441-448 , 2018

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

5

Severe defect in mitochondrial complex I assembly with mito..:

Fragaki, Konstantina ; Chaussenot, Annabelle ; Boutron, Audrey...
Muscle & Nerve. 55 (2017) 6 - p. 919-922 , 2017

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

6

Assembly defects of multiple respiratory chain complexes in..:

Fragaki, Konstantina ; Chaussenot, Annabelle ; Boutron, Audrey...
Molecular Genetics and Metabolism. 121 (2017) 3 - p. 224-226 , 2017

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

7

UQCRC2 mutation in a patient with mitochondrial complex III..:

Gaignard, Pauline ; Eyer, Didier ; Lebigot, Elise...
Journal of Human Genetics. 62 (2017) 7 - p. 729-731 , 2017

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

8

A somatic mosaicism in the G6PD gene inducing a late onset ..:

Couronné, Lucile ; Tertian, Gérard ; Boutron, Audrey...
American Journal of Hematology. 92 (2017) 8 - p. , 2017

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

9

E4F1 controls a transcriptional program essential for pyruv..:

Lacroix, Matthieu ; Rodier, Geneviève ; Kirsh, Olivier...
Proceedings of the National Academy of Sciences. 113 (2016) 39 - p. 10998-11003 , 2016

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

10

E4F1 controls a transcriptional program essential for pyruv..:

Lacroix, Matthieu ; Rodier, Geneviève ; Kirsh, Olivier...
Proceedings of the National Academy of Sciences of the United States of America. 113 (2016) 39 - p. 10998-11003 , 2016

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

11

Phenotypic and Neuropathological Characterization of Fetal ..:

Pirot, Nathalie ; Crahes, Marie ; Adle-Biassette, Homa...
Journal of Neuropathology & Experimental Neurology. 75 (2016) 3 - p. 227-238 , 2016

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

12

Mitochondrial trifunctional protein deficiency in human cul..:

Djouadi, Fatima ; Habarou, Florence ; Le Bachelier, Carole...
Journal of Inherited Metabolic Disease. 39 (2015) 1 - p. 47-58 , 2015

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

13

Fructose 1,6‐bisphosphatase deficiency: clinical, biochemic..:

Lebigot, Elise ; Brassier, Anaïs ; Zater, Mokhtar...
Journal of Inherited Metabolic Disease. 38 (2015) 5 - p. 881-887 , 2015

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

14

New spastic paraplegia phenotype associated to mutation of ..:

Tonduti, Davide ; Dorboz, Imen ; Imbard, Apolline...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

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

15

Leukoencephalopathy with cysts and hyperglycinemia may resu..:

Nizon, Mathilde ; Boutron, Audrey ; Boddaert, Nathalie...
Mitochondrion. 15 (2014) - p. 59-64 , 2014

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