EMBO Mol Med. 2020 Feb 7, .  et al. 0

Ehinger Y

Maroofian R, .  et al. 0

Çavdarlı B

, .  et al. 0

Cécile, .  et al. 0

Sandra; Corbani

CI 95% 1.48-6.4 and 1.19-6.05, .  et al. 0

respectively)

Am J Hum Genet. 2019 Jun 6, .  et al. 0

O'Donnell-Luria AH

Bourdon V, .  et al. 0

Fontes M

Lydia, .  et al. 0

Ana; Barkats

bone malformations, .  et al. 0

and early death;;;;;;;eng;;;;;PubMed;;PMID: 21465653

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

Int J Genomics. 2019 Mar 27, .  et al. 0

Frullanti E

Saidi L, .  et al. 0

Villard L

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

Nicolas, .  et al. 0

Martine; Bonnefond

, .  et al. 0

, .  et al. 0

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

Epilepsia. 2019 May, .  et al. 0

Denis J

Chavany J, .  et al. 0

Spiga Ghata A

, .  et al. 0

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