MMG PUBLICATIONS

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Results: 4167  publications found.

Laurent, .  et al. 0

Jean-Christophe";Rett syndrome from bench to bedside: recent advances.;F1000Research;;2046-1402;10.12688/f1000research.14056.1;;Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review

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Ian R.", .  et al. 0

genetic differences among isolates of an AMF species could potentially have strong effects on the structure of plant communities. We tested the hypothesis that within species variation in the AMF Rhizophagus irregularis significantly affects plant community structure and plant co-existence. We took advantage of a recent genetic characterization of several isolates using double-digest restriction-site assoc

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Lester T, .  et al. 0

Villard L

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Ute, .  et al. 0

Eve; Mantovani

Emmanuel; Selim
Thomas; Helbig - issue: Marina; Specchio - volume: Nicola; Ceulemans - pages: Helle; Korenke.


C., .  et al. 0

C.; Lépine

it is difficult to find a common mechanism to explain EOEE. In this short review
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were used as either single inoculum or as mixed diversity inoculum. Plants in a mesocosm representing common species that naturally co-exist in European grasslands were inoculated with the different AMF treatments. We found that within-species differences in R. irregularis did not strongly influence the performance of individual plants or the structure of the overall plant community. However, .  et al. 0

the evenness of the plant community was affected by the phylogeny of the fungal isolates

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the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes Tassone F, .  et al. 0

Villard L

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Lennox-Gastaut not emerging from West syndrome (two patients), .  et al. 0

and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome

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Nicolas, .  et al. 0

Yah-Se; Borloz

Lydia; Villard
- issue: and is under-expressed in Mecp2 knockout brains. Here - volume: we demonstra - pages: but non-specific overexpression of BDNF only partially improves the phenotype of Mecp2-deficient mice. We and others have previously shown that huntingtin (HTT) scaffolds molecular motor complexes.


, .  et al. 0

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Millasseau P, .  et al. 0

Djabali M

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truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, .  et al. 0

characterized by slowing of fast inactivation

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increases striatal BDNF availability and synaptic connectivity in vivo, .  et al. 0

and improves the phenotype and the survival of Mecp2 knockout mice-even though treatments were initiated only after the mice had already developed symptoms. Stimulation of endogenous cellular pathways may thus be a promising approach for the treatment of RTT patients.;07/02/2020;23/06/2020 08:42;23/06/2020 08:42;;e10889;;2;12;;EMBO Mol Med;;;;;;;;eng;;;;;PubMed;;PMID: 31913581 PMCID: PMC7005633

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Sanger sequencing, .  et al. 0

epilepsy gene panel

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Fontes M. "Mamm Genome. 1995 Sep, .  et al. 0

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response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.", .  et al. 0

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most biological parameters, .  et al. 0

including brain structure

for several reasons. Firstly
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and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. CONCLUSION: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome., .  et al. 0

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Desbordes de Cepoy P, .  et al. 0

Aeby A

Riquet A
Van Gils J - issue: Vermersch AI - volume: Altuzarra C - pages: Valton L.


Víctor, .  et al. 0

Jordan C.; Sveden

Britt Marie; Azzarello-Burri
Lisa; Currò - issue: Sophia; Charles - volume: Perrine; Cox - pages: Rebecca; Carre.