Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

Abstract Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% of individua...

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出版年:	BMC Genomics
主要な著者:	Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane A. Martins Moreno, Zhong Ren, Hemali Phatnani, The New York Genome Center ALS Sequencing Consortium, Timothy J. Aitman, Javier Santoyo-Lopez, Scottish Genomes Partnership, Hiroshi Mitsumoto, ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators, David B. Goldstein, Matthew B. Harms
フォーマット:	論文
言語:	英語
出版事項:	BMC 2024-06-01
主題:	Amyotrophic lateral sclerosis ALS Peripheral lateral sclerosis PLS Burden testing Rare-variant analyses
オンライン･アクセス:	https://doi.org/10.1186/s12864-024-10538-1