Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
- Creator: Zambonin, Jessica L. , Bellomo, Allison , Koenig, Mary Kay , Lines, Matthew , Palmer, Elizabeth Emma , Richardson, Randal , Segel, Reeval , Tarnopolsky, Mark , Vanstone, Jason R. , Gibbons, Melissa , Collins, Abigail , Fogel, Brent L. , Ben-Pazi, Hilla , Dudding-Byth, Tracy , Boycott, Kym M. , Everman, David B. , Frazer, Lee M. , Geraghty, Michael T. , Harper, Amy D. , Jones, Julie R. , Kamien, Benjamin , Kernohan, Kristin
- Resource Type: journal article
- Date: 2017
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
- Creator: Huang, Lijia , Chardon, Jodi Warman , Boycott, Kym M , Carter, Melissa T. , Friend, Kathie L , Dudding, Tracy E. , Schwartzentruber, Jeremy , Zou, Roubing , Schofield, Peter W. , Douglas, Stuart , Bulman, Dennis E
- Resource Type: journal article
- Date: 2012