نتایج جستجو برای: neuroaxonal dystrophy
تعداد نتایج: 22776 فیلتر نتایج به سال:
Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy
BACKGROUND Since 1998 BUPA has used the Short-Form 36 (SF-36) questionnaire to monitor changes in health status after adult elective surgery. Over 70 independent hospitals across the United Kingdom have collected data on over 100000 patient episodes. SF-36 is one of a number of tools that support clinical governance in the sector. Results are reported confidentially, putting the emphasis on sup...
Chunks are a programming construct in PLAN, the Packet Language for Active Networks, comprised of a code segment and a suspended function call. In PLAN, chunks provide support for encapsulation and other packet programming techniques. This paper begins by explaining the semantics and implementation of chunks. We proceed, using several PLAN source code examples, to demonstrate the usefulness of ...
The light response in Drosophila photoreceptor cells is mediated by a series of proteins that assemble into a macromolecular complex referred to as the signalplex. The central player in the signalplex is inactivation no afterpotential D (INAD), a protein consisting of a tandem array of five PDZ domains. At least seven proteins bind INAD, including the transient receptor potential (TRP) channel,...
BACKGROUND Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical NAD); and the more recently recognized young-onset dystonia-parkinsonism (PLAN-DP). CASE REPORT We report the clinical, radiological, and genetic...
Transsynaptic degeneration of lateral geniculate bodies in blind children: in vivo MR demonstration.
PURPOSE To investigate signal alterations in the thalamic lateral geniculate bodies of blind patients compatible with transsynaptic degeneration of these nuclei caused by pregeniculate or postgeniculate interruption of the visual pathway. METHODS Six patients were selected from a group of blind children in our care. Four had cerebral palsy caused by periventricular leukomalacia, one had infan...
Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5 children, of whom 4 presented with infantile neuroaxonal dystrophy (INAD). One other patient was diagnosed with the onset of PLAN in childhood, and our report h...
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