Carla Mendonça

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OBJECTIVE To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology. METHODS We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis(More)
(A) Functional analysis of the missense alterations p.Pro557Arg, p.Tyr647Ser, p.Gly815Arg and p.Phe817Leu showed a significant reduction in maximal-inducible currents upon heterologous expression with GluN2B in Xenopus laevis oocytes and two-electrode voltage clamping (TEVC). (B) Pharmacological characterization of the apparent glutamate affinities of(More)
This study is the first to evaluate the effects of five seaweeds (Ulva sp., Laminaria ochroleuca, Saccharina latissima, Gigartina sp., and Gracilaria vermiculophylla) on gas and methane production and ruminal fermentation parameters when incubated in vitro with two substrates (meadow hay and corn silage) for 24 h. Seaweeds led to lower gas production, with(More)
Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease,(More)
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