, .  et al. 0

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

Font, .  et al. 0

Saugier-Veber P

Le Fur Y, .  et al. 0

Villard L

Nadine, .  et al. 0

Marc; Zelenika

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

Gene. 1998 Mar 27, .  et al. 0

Villard L

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

, .  et al. 0

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

, .  et al. 0

Hum Mol Genet. 1998 Apr, .  et al. 0

Cardoso C

Popp B, .  et al. 0

Tamer C

, .  et al. 0

Carlos, .  et al. 0

Christa Lese; Weiss

, .  et al. 0

, .  et al. 0

Genomics. 1997 Jul 15, .  et al. 0

Villard L

, .  et al. 0

Vera M., .  et al. 0

Marlène; Doco-Fenzy