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First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt:early onset and high consanguinity
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作者 Nabila Hamdi Kathrin Mueller +8 位作者 Amr Hamza Radwa Soliman Enass Onbool Kareem Omran omnia ocab Axel Freischmidt Reiner Siebert Albert Ludolph Nagia Fahmy 《Frontiers of Medicine》 CSCD 2024年第6期1115-1118,共4页
Dear Editor,Significant progress has been made in understanding the genetics of amyotrophic lateral sclerosis(ALS),particularly in European populations.However,a substantial proportion of familial ALS(fALS)cases remai... Dear Editor,Significant progress has been made in understanding the genetics of amyotrophic lateral sclerosis(ALS),particularly in European populations.However,a substantial proportion of familial ALS(fALS)cases remaingenetically unexplained.Emerging evidence suggests that ALS phenotypes and genetic risk factors may vary across ethnicities and regions.Investigating the genetic architecture of ALS in understudied populations could uncover new pathwaysand mechanisms contributing to motor neuron degeneration. 展开更多
关键词 amyotrophic FAMILIAL DEGENERATION
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