Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Por Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Publicado em 2012

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Por Weaving, Linda S., Christodoulou, John, Williamson, Sarah L., Friend, Kathie L., McKenzie, Olivia L. D., Archer, Hayley, Evans, Julie, Clarke, Angus, Pelka, Gregory J., Tam, Patrick P. L., Watson, Catherine, Lahooti, Hooshang, Ellaway, Carolyn J., Bennetts, Bruce, Leonard, Helen, Gécz, Jozef
Publicado em 2004