Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
Zambonin, Jessica L, Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B, Frazer, Lee M, Geraghty, Michael T, Harper, Amy D, Jones, Julie R, Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R, Gibbons, Melissa, Collins, Abigail, Fogel, Brent L, Dudding-Byth, Tracy, Boycott, Kym M
Published in Orphanet journal of rare diseases (28.06.2017)
Published in Orphanet journal of rare diseases (28.06.2017)
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