Somatic Instability of the FGF14 -SCA27B GAA•TTC Repeat Reveals a Marked Expansion Bias in the Cerebellum.
David Pellerin,Jean-Loup Mereaux,Susana Boluda,Matt C. Danzi,Marie-Josee Dicaire,Claire-Sophie Davoine,David Genis, Guinevere Spurdens,Catherine Ashton, Jillian M. Hammond, Brandon J. Gerhart,Viorica Chelban, Phuong U. Le, Maryam Safisamghabadi,Christopher Yanick, Hamin Lee, Sathiji K. Nageshwaran,Gabriel Matos-Rodrigues,Zane Jaunmuktane,Kevin Petrecca,Schahram Akbarian,Andre Nussenzweig,Karen Usdin,Mathilde Renaud,Celine Bonnet,Gianina Ravenscroft,Mario A. Saporta,Jill S. Napierala,Henry Houlden,Ira W. Deveson,Marek Napierala,Alexis Brice,Laura Molina Porcel,Danielle Seilhean,Stephan Zuchner,Alexandra Durr,Bernard Brais BRAIN（2025）
Key words
SCA27B,spinocerebellar ataxia 27B,GAA-FGF14 ataxia,repeat expansion disorder,mosaicism,repeat expansion
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