ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Panza Emanuele<sup>*</sup>; Escamilla Honrubia Juan M; Marco Marin Clara; Gougeard Nadine; De Michele Giuseppe; Morra Vincenzo Brescia; Liguori Rocco; Salviati Leonardo; Donati Maria Alice; Cusano Roberto; Pippucci Tommaso; Ravazzolo Roberto; Nemeth Andrea H; Smithson Sarah; Davies Sally; Hurst Jane A; Bordo Domenico; Rubio Vicente; Seri Marco

doi:10.1093/brain/awv247

免费注册

赞收藏引用

科研之友

微信

新浪微博

Facebook

分享链接

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

作者：Panza Emanuele^*; Escamilla Honrubia Juan M; Marco Marin Clara; Gougeard Nadine; De Michele Giuseppe; Morra Vincenzo Brescia; Liguori Rocco; Salviati Leonardo; Donati Maria Alice; Cusano Roberto; Pippucci Tommaso; Ravazzolo Roberto; Nemeth Andrea H; Smithson Sarah; Davies Sally; Hurst Jane A; Bordo Domenico; Rubio Vicente; Seri Marco

来源：Brain, 2016, 139(1): e3.

DOI：10.1093/brain/awv247