نتایج جستجو برای: episodic ataxia type 2
تعداد نتایج: 3480788 فیلتر نتایج به سال:
Research on future-oriented cognition in generalized anxiety disorder (GAD) has primarily focused on worry, while less is known about the role of episodic future thinking (EFT), an imagery-based cognitive process. To characterize EFT in this disorder, we used the experimental recombination procedure, in which 21 GAD and 19 healthy participants simulated positive, neutral and negative novel futu...
Episodic foresight (EpF) or, the ability to imagine the future and use such imagination to guide our actions, is an important aspect of cognition that has not yet been explored in children with autism spectrum disorder (ASD). This is despite its proposed links with theory of mind (ToM) and executive function (EF), two areas found to be impaired in ASD. Twenty-five children with ASD (M = 5 years...
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the best characterized and account for the majority of identified cases of episodic ataxia. We summarize current knowledge of clinical and genetic diagnosis, genotype-phenotype correlations, pathophysiology and treatment of ep...
Reduced expression of the mitochondrial protein Frataxin (FXN) is the underlying cause of Friedreich's ataxia. We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA repeats that links R-loop structures, antisense transcription, and heterochromatin formation as a novel mechanism of transcriptional repression in Friedreich's ataxia.
In feeling of knowing (FOK) studies, participants predict subsequent recognition memory performance on items that were initially encoded but that cannot presently be recalled. Research suggests that FOK judgment magnitude may be influenced by the total amount, or quantity, of contextual information retrieved related to the unrecalled target (e.g., Koriat, 1993). The present study examined the c...
In order to provide empirical evidence on the role of a web-based avian influenza (AI) education program for mass communication and also ultimately help young children learn and develop healthy behaviors against AI and all types of influenza, an education program with two episodic variations (i.e. fear and humor) has been developed and examined with 183 fifth-grade elementary students. A quasi-...
We experimentally demonstrate a superior performance of 2.1-Tb/s·km OFDM signal transmission over 100-km long-reach PONs. While the bandwidth of a 100-km SMF transmission system is limited to 4.3 GHz due to positive chirp, we successfully achieve spectrally-efficient 21-Gb/s signaling by using a cost-effective and low-chirp EAM, and adopting the 128-QAM format and adaptive subcarrier pre-emphasis.
We have investigated the functional consequences of three P/Q-type Ca(2+) channel alpha1A (Ca(v)2.1alpha(1)) subunit mutations associated with different forms of ataxia (episodic ataxia type 2 (EA-2), R1279Stop, AY1593/1594D; progressive ataxia (PA), G293R). Mutations were introduced into human alpha1A cDNA and heterologously expressed in Xenopus oocytes or tsA-201 cells (with alpha(2)delta and...
We have investigated the functional consequences of three P/Q-type Ca channel 1A (Cav2.1 1) subunit mutations associated with different forms of ataxia (episodic ataxia type 2 (EA-2), R1279Stop, AY1593/1594D; progressive ataxia (PA), G293R). Mutations were introduced into human 1A cDNA and heterologously expressed in Xenopus oocytes or tsA-201 cells (with 2 and 1a) for electrophysiological and ...
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