Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorde r characterized by earlyonset cerebellar ataxia, oculomotor apraxia, and perip heral neuropathy. The causative gene (APTX) has been rece...Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorde r characterized by earlyonset cerebellar ataxia, oculomotor apraxia, and perip heral neuropathy. The causative gene (APTX) has been recently identified in Port uguese and Japanese kindreds. Three patients with AOA1 were identified in an APT X mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found i n one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical het erogeneity and onset later than previously described are shown.展开更多
"优质与功绩计划"(the Quality and Merit Project,PQM)是意大利南部的坎帕尼亚、西西里岛、卡拉布里亚、阿普利亚地区薄弱学校实施的学校改进计划,其宗旨是充分利用欧盟区域发展基金和欧洲社会资金的资助,通过对薄弱学校的..."优质与功绩计划"(the Quality and Merit Project,PQM)是意大利南部的坎帕尼亚、西西里岛、卡拉布里亚、阿普利亚地区薄弱学校实施的学校改进计划,其宗旨是充分利用欧盟区域发展基金和欧洲社会资金的资助,通过对薄弱学校的教师进行多元化在职培训以及为教师提供创新性的教学材料,提高教师的专业发展水平,从而增强学生在数学科目的学业成就。经过为期两个学年的实践,完成PQM学校改进项目的学生数学成绩都有不同程度提高。这一项目的计划和实施对中国教育水平落后地区薄弱学校的改进有重要的借鉴意义。展开更多
文摘Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorde r characterized by earlyonset cerebellar ataxia, oculomotor apraxia, and perip heral neuropathy. The causative gene (APTX) has been recently identified in Port uguese and Japanese kindreds. Three patients with AOA1 were identified in an APT X mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found i n one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical het erogeneity and onset later than previously described are shown.
文摘"优质与功绩计划"(the Quality and Merit Project,PQM)是意大利南部的坎帕尼亚、西西里岛、卡拉布里亚、阿普利亚地区薄弱学校实施的学校改进计划,其宗旨是充分利用欧盟区域发展基金和欧洲社会资金的资助,通过对薄弱学校的教师进行多元化在职培训以及为教师提供创新性的教学材料,提高教师的专业发展水平,从而增强学生在数学科目的学业成就。经过为期两个学年的实践,完成PQM学校改进项目的学生数学成绩都有不同程度提高。这一项目的计划和实施对中国教育水平落后地区薄弱学校的改进有重要的借鉴意义。