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TRIMOUILLE, Aurelien
176
results:
Search for persons
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Format
Online (176)
Mediatypes
Articles (Online) (38)
OpenAccess-fulltext (138)
Languages
english (165)
french (10)
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1
Mutation on MT-CO2 gene induces mitochondrial disease assoc..:
Courtois, Sarah
;
Angelini, Chloé
;
M. Durand, Christelle
...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1870 (2024) 1 - p. 166856 , 2024
Link:
https://doi.org/10.1016/..
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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/..
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3
Extending the clinical spectrum of X-linked Tonne-Kalscheue..:
Cuinat, Silvestre
;
Quélin, Chloé
;
Effray, Claire
...
Journal of Medical Genetics. , 2024
Link:
https://doi.org/10.1136/..
?
4
Pharmacogénétique de l'ototoxicité des aminosides : état de..:
Lebreton, Louis
;
Hennart, Benjamin
;
Baklouti, Sarah
...
Therapies. , 2024
Link:
https://doi.org/10.1016/..
?
5
Intégration des données histo-pathologiques, biochimiques e..:
Trimouille, Aurélien
;
Courtois, Sarah
;
Angelini, Chloé
...
Morphologie. 107 (2023) 359 - p. 100623 , 2023
Link:
https://doi.org/10.1016/..
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6
Wells syndrome and acquired cutis laxa: An atypical associa..:
Bouquerel, Margot
;
Dequidt, Laure
;
Jullie, Marie‐Laure
...
The Journal of Dermatology. 50 (2023) 11 - p. , 2023
Link:
https://doi.org/10.1111/..
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7
TRAPPC6B biallelic variants cause a neurodevelopmental diso..:
Almousa, Hashem
;
Lewis, Sara A
;
Bakhtiari, Somayeh
...
Brain. 147 (2023) 1 - p. 311-324 , 2023
Link:
https://doi.org/10.1093/..
?
8
Whole-exome sequencing confirms implication of VPS13D as a ..:
Durand, Christelle M.
;
Angelini, Chloé
;
Michaud, Vincent
...
BMC Neurology. 22 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
9
Hemidystonia with polymicrogyria is part of ATP1A3-related ..:
Lacombe, Didier
;
Van-Gils, Julien
;
Lebrun, Marine
...
Brain and Development. 44 (2022) 8 - p. 567-570 , 2022
Link:
https://doi.org/10.1016/..
?
10
Renal involvement is frequent in adults with primary mitoch..:
Bakis, Hugo
;
Trimouille, Aurélien
;
Vermorel, Agathe
...
Clinical Kidney Journal. 16 (2022) 1 - p. 100-110 , 2022
Link:
https://doi.org/10.1093/..
?
11
Biochemical consequences of two clinically relevant ND-gene..:
Nuber, Franziska
;
Schimpf, Johannes
;
di Rago, Jean-Paul
...
Scientific Reports. 11 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
12
Implication of folate deficiency in CYP2U1 loss of function:
Pujol, Claire
;
Legrand, Anne
;
Parodi, Livia
...
Journal of Experimental Medicine. 218 (2021) 11 - p. , 2021
Link:
https://doi.org/10.1084/..
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13
A recurrent missense variant in EYA3 gene is associated wit..:
Tingaud-Sequeira, Angèle
;
Trimouille, Aurélien
;
Salaria, Manju
...
Human Genetics. 140 (2021) 6 - p. 933-944 , 2021
Link:
https://doi.org/10.1007/..
?
14
CHN1 and duane retraction syndrome: Expanding the phenotype..:
Angelini, Chloé
;
Trimouille, Aurélien
;
Arveiler, Benoit
...
European Journal of Medical Genetics. 64 (2021) 4 - p. 104188 , 2021
Link:
https://doi.org/10.1016/..
?
15
Improved detection of mitochondrial DNA instability in mito..:
Bris, Celine
;
Goudenège, David
;
Desquiret-Dumas, Valerie
...
Genetics in Medicine. 23 (2021) 9 - p. 1769-1778 , 2021
Link:
https://doi.org/10.1038/..
1-15