PUBLICATIONS of MMG

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Résultats : 4197  publications trouvées.

Neurobiol Dis. 2017 Mar, .  et al. 0

Matagne V

10.1016/j.nbd.2016.12.009
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Pharmaceutics. 2021 Aug 12, .  et al. 0

Felix MS

10.3390/pharmaceutics13081245
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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

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

Arnaud L

10.1016/j.ejmg.2022.104445
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Villard L., .  et al. 0

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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

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c.1265G>A (p.R422H), .  et al. 0

c.1264C>T (p.R422C)

it emerges that the TUBA1A related lissencephaly spectrum ranges from perisylvian pachygyria
- issue: mental retardation and diplegia/tetraplegia. CONCLUSIONS: Our data highlight the presence of consistent a - volume: - pages: these features appear to be specific to TUBA1A related lissencephaly. In addition.

and the Agaricomycetes, .  et al. 0

that may be facultative plant symbionts

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Epilepsia. 2016 May, .  et al. 0

Devaux J

10.1111/epi.13366
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J Physiol. 2022 May, .  et al. 0

Biba-Maazou N

10.1113/JP282536
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Fontés M, .  et al. 0

Saugier-Veber P

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Adeline, .  et al. 0

Laurent; Roux

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, .  et al. 0

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, .  et al. 0

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J Genet. 2016 Mar, .  et al. 0

Lacoste C

10.1007/s12041-016-0619-0
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Epilepsia. 2023 Jun, .  et al. 0

Mignon-Ravix C

10.1111/epi.17603
- issue: - volume: - pages: .