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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

- 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

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

- 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

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