PUBLICATIONS of MMG

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Résultats : 4196  publications trouvées.

Lester T, .  et al. 0

Villard L

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in a child presenting with ID and an autism spectrum disorder (ASD). The second CNV is a partial deletion of KLHL15, .  et al. 0

in a patient with severe ID

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, .  et al. 0

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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.


, .  et al. 0

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Am J Med Genet. 1999 Apr 2, .  et al. 0

Holden JJ

10.1002/(sici)1096-8628(19990402)83:4<221::aid-ajmg1>3.0.co;2-k
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Villard L. "J Neurosci Res. 2010 May 15, .  et al. 0

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to a lesser extent, .  et al. 0

in the glutamate pathway. The implication of the GABA pathway in the RTT neuropathology was further confirmed using an in vivo treatment with a GABA reuptake inhibitor that significantly improved the lifespan of Mecp2-deficient mice. Our results confirm that RTT mouse present a deficit in the GABAergic pathway and suggest that GABAergic modulat

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, .  et al. 0

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a severe regression occurred. We identified a novel homozygous protein-truncating variant in the NAPB (N-ethylmaleimide-sensitive fusion [NSF] attachment protein beta) gene that encodes the βSNAP protein, .  et al. 0

a key regulator of NSF-adenosine triphosphatase. This enzyme is essential for synaptic transmission by disassembling and recycling proteins of the SNARE complex. Here

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Font, .  et al. 0

Saugier-Veber P

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Le Fur Y, .  et al. 0

Villard L

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Nadine, .  et al. 0

Marc; Zelenika

Laurent";AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability
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and the tooth buds themselves. We have also identified the orthologous mouse Tbx22 gene and performed expression analysis in E12.5-E17.5 mouse embryos. The location of mRNA expression closely correlates between mouse and human, .  et al. 0

while at later stages of development

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Gene. 1998 Mar 27, .  et al. 0

Villard L

10.1016/s0378-1119(98)00032-8
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Villard L, .  et al. 0

Roux JC. "Behav Brain Res. 2011 Jan 1;216(1):313-20. doi: 10.1016/j.bbr.2010.08.011. Epub 2010 Aug 14." Pratte M Behav Brain Res 2011 18/08/2010 10.1016/j.bbr.2010.08.011

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, .  et al. 0

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suggesting that it belongs to the clinical entity of rare congenital muscular dystrophies., .  et al. 0

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, .  et al. 0

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Hum Mol Genet. 1998 Apr, .  et al. 0

Cardoso C

10.1093/hmg/7.4.679
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