نتایج جستجو برای: episodic ataxia type 2
تعداد نتایج: 3480788 فیلتر نتایج به سال:
This paper presents a computational model for encoding and inferential reuse of memories, based on novelty and familiarity principle. The method is strongly inspired by the state of the art understanding of the hippocampal functioning and especially its role in novelty detection and episodic memory formation in relation to spatial context. A navigation task is used to provide an experimental se...
BACKGROUND Multiple episodic ataxia phenotypes and genotypes have been described. OBJECTIVE To describe a new episodic ataxia syndrome. DESIGN Genomewide linkage analysis with dense single nucleotide polymorphism arrays. SETTING University clinic. Patients Family with lifelong episodes of ataxia and normal interictal examination results. RESULTS Suggestive linkage (logarithm of odds sco...
Two experiments investigated the long-term effects of retrieval practice. In the retrieval-practice procedure, selected items from a previously studied list are repeatedly recalled. The typical retrieval-practice effects are considerably enhanced memory for practiced items accompanied by low levels of recall, relative to baseline, for previously studied items that are associated with the practi...
Familial hemiplegic migraine (HM) is an autosomal dominant migraine with aura. In 20% of HM families, HM is associated with a mild permanent cerebellar ataxia (PCA). The CACNA1A gene encoding the alpha1A subunit of P/Q-type voltage-gated calcium channels is involved in 50% of unselected HM families and in all families with HM/PCA. Four CACNA1A missense mutations have been identified in HM: two ...
OBJECTIVE To identify the disease-causing mutation and to characterize penetrance and phenotypic variability in a large pedigree with episodic ataxia type 2 (EA-2) previously linked to chromosome 19. BACKGROUND Mutations in the CACNA1A gene on chromosome 19 encoding a calcium channel subunit cause EA-2, which is characterized by recurrent attacks of imbalance with interictal eye movement abno...
8 ABSTRACT Migraine with aura (MA) is a common headache disorder with a population prevalence of approximately 5%. This subtype of migraine is characterized by neurological, typically visual, symptoms that precede the headache. Twin and family studies have provided strong evidence of genetic factors in MA susceptibility and have shown that the mode ...
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