نتایج جستجو برای: choreoathetosis

تعداد نتایج: 1147  

Journal: :Nucleic Acids Research 2006
Barbara M. Tynan-Connolly Jens Erik Nielsen

The pK(a) values in proteins govern the pH-dependence of protein stability and enzymatic activity. A large number of mutagenesis experiments have been carried out in the last three decades to re-engineer the pH-activity and pH-stability profile of enzymes and proteins. We have developed the pKD webserver (http://polymerase.ucd.ie/pKa_Design), which predicts sets of point mutations that will cha...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2009
Carole A Farah Daniel Weatherill Tyler W Dunn Wayne S Sossin

Learning is highly regulated by the pattern of training. In Aplysia, an important organism for the development of cellular and molecular models of learning, spaced versus massed application of the same stimulus leads to different forms of memory. A critical molecular step underlying memory is the serotonin (5HT)-mediated activation of the novel PKC Apl II. Here, we demonstrate that activation o...

Journal: :Journal of medical genetics 1980
C J Brackenridge

The discriminatory power of ten factors has been explored in relation to the presence or absence of muscular rigidity in patients with Huntington's disease. The sex and neurological sign of an affected parent were the only two significant determinants of rigidity or choreoathetosis in offspring. It was shown, using the Mantel-Haenszel method of adjusting for confounding variables that the risk ...

Journal: :Arquivos De Neuro-psiquiatria 2023

Case presentation: A 3-year-old patient started with runny nose and fever onset treatment for pneumonia, without improvement amoxacillin Clavulanic Acid 10 days; later azithromycin 5 days, joined our service due to impaired respiratory function, when performing chest computer tomography (CT): seen opacities in matte glass bilaterally. Screening tests COVID-19 the initial care unit were negative...

2013
Hong-Fu Li Zhi-Ying Wu

The recent discovery of PRRT2 mutations in Paroxysmal Kinesigenic Dyskinesia (PKD) has spurred a number of studies on PRRT2 mutations and PRRT2 disorders including PKD, Benign Familial Infantile Epilepsy (BFIE), and Infantile Convulsions with Choreoathetosis (ICCA). Mutated PRRT2 is also implicated in several other paroxysmal neurological disorders, indicating a wide phenotypic spectrum of PRRT...

2009
R. Pohmann

Introduction Since the small animal imaging generally requires anesthesia, anesthetic agents can induce unintended effects on animal physiology that may confound the results of imaging studies [1]. The use of isoflurane and ketamine/xylazine anesthesia is popular in imaging studies of laboratory animals. The striatum is the major input station of the basal ganglia system. It is involved in Park...

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