PUBLICATIONS of MMG

Veuillez utiliser l'outil ci-dessous pour consulter nos publications par mots clés et/ou par équipe et/ou par année.

Suivez les liens pour consulter les publications sur le site de PubMed.



Rechercher une publication





Résultats : 4167  publications trouvées.

Kammoun F, .  et al. 0

Fakhfakh F

- issue: - volume: - pages: .


, .  et al. 0

- issue: - volume: - pages: .


EEG paroxysmal abnormalities disappeared in three patients and decreased in two, .  et al. 0

giving place to continuous activity with fast rhythms. Each patient displayed frequent nonepileptic movement disorders that could easily be mistaken for epileptic seizures. These movements could be observed as early as the neonatal period and

- issue: - volume: - pages: .


to a lesser extent, .  et al. 0

in the glutamate pathway. The implication of the GABA pathway in the RTT neuropathology was further confirmed using an in vivo treatment with a GABA reuptake inhibitor that significantly improved the lifespan of Mecp2-deficient mice. Our results confirm that RTT mouse present a deficit in the GABAergic pathway and suggest that GABAe

- issue: - volume: - pages: .


Brain. 2017 May 1, .  et al. 0

Wolff M

10.1093/brain/awx054
- issue: - volume: - pages: .


J Med Genet. 2023 Feb, .  et al. 0

Brock S

10.1136/jmedgenet-2021-107971
- issue: - volume: - pages: .


Roux JC., .  et al. 0

- issue: - volume: - pages: .


Julie, .  et al. 0

Cyril; Auvin

Maryline; Kaminska
Dianne; Billette de Villemeur - issue: Domitille; Afenjar - volume: Alexandra; Dorison - pages: Marie Anne; Heron.


, .  et al. 0

- issue: - volume: - pages: .


, .  et al. 0

- issue: - volume: - pages: .


Neurobiol Dis. 2017 Mar, .  et al. 0

Matagne V

10.1016/j.nbd.2016.12.009
- issue: - volume: - pages: .


Pharmaceutics. 2021 Aug 12, .  et al. 0

Felix MS

10.3390/pharmaceutics13081245
- issue: - volume: - pages: .


St-Onge J, .  et al. 0

Duffourd Y

Isidor B
de Saint Martin A - issue: Chouchane M - volume: Huet F - pages: Toutain A.


without any brain structural abnormality. To be included in the cohort, .  et al. 0

patient's epilepsy should begin before three months of age and be associated with abnormal interictal EEG and neurological impairment. Brain MRI should not show any structural abnormality that could account for the epilepsy. RESULTS: Out of those 71 patients

- issue: - volume: - pages: .


N., .  et al. 0

Y.; Castelnau

S.; Bourgeois
J.";Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.;Journal of medical genetics;;1468-6244 0022-2593;10.1136/jmg.2008.058073;;OBJECTIVE: We have recently shown that de novo mutations in the TUBA1A gene are responsible for a w - issue: F.; Pinard - volume: J. M.; Beldjord - pages: L.; Roubertie.


Hélène, .  et al. 0

Mari; Villard

Ian; Guisan
- issue: - volume: - pages: and then test the effect of the number of soil fungal operational taxonomic units (OTUs) on plant species distributions using a recently collected dataset of plant and metagenomic information on soil fu.


Am J Med Genet A. 2016 Nov, .  et al. 0

Goldenberg A

10.1002/ajmg.a.37878
- issue: - volume: - pages: .


Eur J Med Genet. 2022 Mar, .  et al. 0

Arnaud L

10.1016/j.ejmg.2022.104445
- issue: - volume: - pages: .


Villard L., .  et al. 0

- issue: - volume: - pages: .


the interictal background EEG was altered and displayed multifocal spikes or a suppression-burst pattern. The ongoing epilepsy and development were highly variable but overall severe: 15/16 had obvious cognitive impairment, .  et al. 0

half of the patients became seizure-free

- issue: - volume: - pages: .