肌萎缩侧索硬化：一个遗传学的观点

Title:Amyotrophic Lateral Sclerosis: A Genetic Point of View

Volume: 14 Issue: 8

Author(s): C. Carlesi, E. Caldarazzo Ienco, M. Mancuso and G. Siciliano

Affiliation:

关键词: 肌萎缩侧索硬化，痴呆，基因测试，全基因组关联，突变，表型，WES

摘要: In the last twenty years the rapid advances in neurogenetic have revolutionized not only the molecular, pathological, inheritance but also the clinical concept of ALS.

Here we review the current genetic breakthrough in familial and sporadic ALS, considering how this knowledge has allowed widening of the scenario on the possible pathogenic disease mechanisms and better understanding of the relationship between the genetic, pathological and clinical subtypes.

Cite this article as:

Carlesi C., Ienco Caldarazzo E., Mancuso M. and Siciliano G., Amyotrophic Lateral Sclerosis: A Genetic Point of View, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010155822