نتایج جستجو برای: episodic ataxia type 2

تعداد نتایج: 3480788  

Journal: :Journal of anxiety disorders 2015
Jade Q Wu Karl K Szpunar Sheina A Godovich Daniel L Schacter Stefan G Hofmann

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...

Journal: :Journal of autism and developmental disorders 2014
Laura K Hanson Cristina M Atance

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...

Journal: :Brain : a journal of neurology 2007
J C Jen T D Graves E J Hess M G Hanna R C Griggs R W Baloh

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...

2015
Jill Sergesketter Butler Marek Napierala

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.

Journal: :Journal of experimental psychology. Learning, memory, and cognition 2011
Ayanna K Thomas John B Bulevich Stacey J Dubois

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...

Journal: :Health education research 2009
Paul Kim Piya Sorcar Sujung Um Heedoo Chung Young Sung Lee

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-...

Journal: :Optics express 2010
Dar-Zu Hsu Chia-Chien Wei Hsing-Yu Chen Jyehong Chen Maria C Yuang Shih-Hsuan Lin Wei-Yuan Li

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.

Journal: :The Journal of biological chemistry 2002
Edwin Wappl Alexandra Koschak Michael Poteser Martina J Sinnegger Doris Walter Andreas Eberhart Klaus Groschner Hartmut Glossmann Richard L Kraus Manfred Grabner Jörg Striessnig

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...

2002
Edwin Wappl Alexandra Koschak Michael Poteser Martina J. Sinnegger Doris Walter Andreas Eberhart Klaus Groschner Hartmut Glossmann Richard L. Kraus Manfred Grabner Jörg Striessnig

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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