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Pubblicazioni
HUMAN MOLECULAR GENETICS
Rivista
Codice:
E078692
ISSN:
0964-6906
Dati Generali
Dati Generali
Pubblicazioni (10)
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility
Articolo
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
Articolo
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.
Articolo
Molecular characterisation of the human apo(a)-plasminogen gene family clustered on the telomeric region of chromosome 6 (6q26-27).
Articolo
Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region.
Articolo
Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency
Articolo
Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.
Articolo
Substitution of Leu for Pro-193in the insulin receptor in a patient with a genetic form of severe insulinresistance.
Articolo
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis
Articolo
The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5
Articolo
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