ATR-X/XNP/XH2 gene MIM #300032), .  et al. 0

Fontes M.;"Eur J Hum Genet. 2002 Apr;10(4):223-5. doi: 10.1038/sj.ejhg.5200800.";Villard L;Eur J Hum Genet;2002;29/05/2002;;;10.1038/sj.ejhg.5200800

Ana, .  et al. 0

Adeline; Villard

, .  et al. 0

improved the lifespan and reduced motor defects, .  et al. 0

suggesting a new therapeutic strategy for Rett syndrome.;2012-02;04/08/2025 08:04;04/08/2025 08:04;;786-795;;2;45;;Neurobiol Dis;;;;;;;;eng;Copyright © 2011 Elsevier Inc. All rights reserved.;;;;;;Place: United States PMID: 22127389

Eur J Hum Genet. 2014 Mar, .  et al. 0

Cacciagli P

Roux JC. "F1000Res. 2018 Mar 26, .  et al. 0

Lossi AM, .  et al. 0

Chelly J

we found that chronic L-Dopa treatment improved the motor deficits previously identified. Altogether, .  et al. 0

our findings demonstrate that Mecp2-deficiency induces nigrostriatal deficits

Cécile, .  et al. 0

Bilal; Moncla

each patient in addition displayed a particular clinical and EEG feature: In two pat, .  et al. 0

Eur J Paediatr Neurol. 2013 Nov, .  et al. 0

Tanyalçin I

Canc, .  et al. 0

Barcia G

Saillour Y, .  et al. 0

Castelnau L

Nathalie, .  et al. 0

Caroline; Abidi

, .  et al. 0

whereas the three other patients displayed epileptic spasms associated with typical suppression-burst patterns starting from the early recordings. Epilepsy dramatically improved after 6 months and finally disappeared before the end of the first year of life for four patients, .  et al. 0

EEG paroxysmal abnormalities disappeared in three patients and decreased in two

Orphanet J Rare Dis. 2013 May 22, .  et al. 0

Milh M

Badens C, .  et al. 0

L

Moncla A, .  et al. 0

Ayrault AD

, .  et al. 0