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1

Polyradiculoneuritis on MRI: An Overlooked Feature of Biall..:

Roux, Charles-Joris ; Dufeu-Berat, Claire-Marine ; Hully, Marie...
Neurology. 102 (2024) 11 - p. , 2024

Link: https://doi.org/10.1212/..

2

Recurrent "outsider" intronic variation in the SLC5A6 gene ..:

Mansour-Hendili, Lamisse ; Gitiaux, Cyril ; Harion, Madeleine...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

3

Systematic analysis of NDUFAF6 in complex I assembly and mi..:

Sung, Andrew Y. ; Guerra, Rachel M. ; Steenberge, Laura H....
Nature Metabolism. 6 (2024) 6 - p. 1128-1142 , 2024

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

4

Successful treatment of severe MSUD in Bckdhb−/− mice with ..:

Pontoizeau, Clément ; Gaborit, Clovis ; Tual, Nolan...
Journal of Inherited Metabolic Disease. 47 (2023) 1 - p. 41-49 , 2023

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

5

Novel ELAC2 Mutations in Individuals Presenting with Variab..:

Cafournet, Cérane ; Zanin, Sofia ; Guimier, Anne...
Life. 13 (2023) 2 - p. 445 , 2023

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

6

A shared pattern of altered gene expression in human embryo..:

Chatzovoulou, Kalliopi ; Mayeur, Anne ; Cagnard, Nicolas...
Human Reproduction. , 2023

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

7

258th ENMC international workshop Leigh syndrome spectrum: ..:

Diodato, Daria ; Schiff, Manuel ; Cohen, Bruce H....
Neuromuscular Disorders. 33 (2023) 8 - p. 700-709 , 2023

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

8

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Ty..:

Barbier, Mathieu ; Bahlo, Melanie ; Pennisi, Alessandra...
Annals of Neurology. 92 (2022) 1 - p. 122-137 , 2022

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

9

Neuropathological hallmarks of antenatal mitochondrial dise..:

Boutaud, Lucile ; Ruzzenente, Benedetta ; Tessier, Aude...
Brain. 146 (2022) 5 - p. 1804-1811 , 2022

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

10

Neonatal gene therapy achieves sustained disease rescue of ..:

Pontoizeau, Clément ; Simon-Sola, Marcelo ; Gaborit, Clovis...
Nature Communications. 13 (2022) 1 - p. , 2022

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

11

Biallelic variants in TAMM41 are associated with low muscle..:

Thompson, Kyle ; Bianchi, Lucas ; Rastelli, Francesca...
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100097 , 2022

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

12

Biallelic mutations in the SARS2 gene presenting as congeni..:

Colin, Elia ; Courtois, Geneviève ; Brouzes, Chantal...
Haematologica. 106 (2021) 12 - p. 3202-3205 , 2021

Link: https://doi.org/10.3324/..

13

Response to: Phenotypic heterogeneity of Leigh syndrome due..:

Torraco, Alessandra ; Maroofian, Reza ; Rötig, Agnès...
Human Mutation. 43 (2021) 1 - p. 99-100 , 2021

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

14

Cerebral blood flow and acute episodes of Leigh syndrome in..:

Loiselet, Klervie ; Ruzzenente, Benedetta ; Roux, Charles‐Joris...
Developmental Medicine & Child Neurology. 63 (2021) 6 - p. 705-711 , 2021

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

15

NovelNDUFA12variants are associated with isolated complex I..:

Torraco, Alessandra ; Nasca, Alessia ; Verrigni, Daniela...
Human Mutation. 42 (2021) 6 - p. 699-710 , 2021

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

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