MMG PUBLICATIONS

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Results: 4198  publications found.

born to first-cousin parents, .  et al. 0

affected with infantile-onset myoclonic epilepsy. The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. The patients had very early onset of focal myoclonic fits with variable topography

in the two affected brothers. This observation combined with recent data from the literature
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Int J Genomics. 2019 Mar 27, .  et al. 0

Frullanti E

10.1155/2019/6956934
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Saidi L, .  et al. 0

Villard L

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were significantly decreased to WT levels in Mecp2 KO mice after AAV9-MCO administration. Semi-quantitative analysis showed that AAV9-MCO administration in Mecp2 KO mice resulted in 10 to 20% Mecp2 immunopositive cells compared to WT animals, .  et al. 0

with the highest Mecp2 expression found in midbrain regions known to regulate cardio-respiratory functions. In addition

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Nicolas, .  et al. 0

Martine; Bonnefond

Anne; Feingold
- issue: 000 females. The total population of females aged 4-15 years in November - volume: - pages: based on a large cohort of 424 patients with Rett syndrome.


, .  et al. 0

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, .  et al. 0

Skeletal muscle MACF1 maintains myonuclei and mitochondria localization through microtubules to control muscle functionalities | bioRxiv

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Epilepsia. 2019 May, .  et al. 0

Denis J

10.1111/epi.14727
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Chavany J, .  et al. 0

Spiga Ghata A

Félix MS
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, .  et al. 0

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but that this amount is affected more importantly by 9 weeks of age. Neurochemical measurements revealed a significant reduction of dopamine content at 5 and 9 weeks of age in the CPu whereas SNpc contents were preserved. Finally, .  et al. 0

we found that chronic L-Dopa treatment improved the motor deficits previously identified. Altogether

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Genet Med. 2019 Jun, .  et al. 0

Piard J

10.1038/s41436-018-0339-3
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Villard L, .  et al. 0

Rodriguez D

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David, .  et al. 0

Christophe; Villard

Martin";Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton;Journal of...
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Ana, .  et al. 0

Jean-Christophe; Dorboz

Pierre; Lévy
and programmed cell death. BAP31 is encoded by BCAP31 - issue: and central hypomyelination and disorganize the Golgi apparatus.;American journal of human genetics;;1537-6605 0002-9297;10.1016/j.ajhg.2013.07.023;;BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein - volume: including ER-associated degradation - pages: Laurent";Mutations in BCAP31 cause a severe X-linked phenotype with deafness.


, .  et al. 0

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Genet Med. 2019 Apr, .  et al. 0

Mignot C

10.1038/s41436-018-0268-1
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Missirian C, .  et al. 0

Borges A

Lindsay S
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Nicolas, .  et al. 0

Ana; Saudou

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which together define an X-linked syndrome. In the primary fibroblasts of affected individuals, .  et al. 0

we found that BCAP31 deficiency altered ER morphology and caused a disorganization of the Golgi apparatus in a significant proportion of cells. Contrary to what has been described with transient-RNA-interference experiments

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