过去一年中添加的文章，按日期排序
[HTML][HTML] Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis
O Dols-Icardo, Á Carbayo, I Jericó… - Journal of Neurology …, 2024 - jnnp.bmj.com
30 天前 - … We performed whole genome sequencing in a group of 12 patients with ALS (5
of them familial) from this unique area. We expanded the study to include affected family …
of them familial) from this unique area. We expanded the study to include affected family …
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry
85 天前 - … Samples from all patients and controls in our cohorts underwent short-read
whole-genome sequencing and sequence data processing as previously published (Citation8), with …
whole-genome sequencing and sequence data processing as previously published (Citation8), with …
Spatial enrichment and genomic analyses reveal the link of NOMO1 with amyotrophic lateral sclerosis
J Guo, L You, Y Zhou, J Hu, J Li, W Yang, X Tang… - Brain, 2024 - academic.oup.com
104 天前 - … 21 burden analyses of rare loss-of-function (LOF) variants detected by whole-genome
sequencing in 22 ALS patients and controls, and then analyzed differential gene …
sequencing in 22 ALS patients and controls, and then analyzed differential gene …