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1.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet
; 92(5): 681-95, 2013 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-23623388
2.
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
Neurogenetics
; 12(2): 165-7, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21318334
3.
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
Nat Cell Biol
; 14(9): 911-23, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22922712
4.
Point mutations in GLI3 lead to misregulation of its subcellular localization.
PLoS One
; 4(10): e7471, 2009 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19829694
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