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The second type of cells showed well dispersed (i.e. less well packed than the first type), spindle shaped cells which did not form either foci or islands of packed assemblies of cells.
In addition, results from transgenic CUGBP1 mouse models (61, 62) and knockout Mbnl1 mice (63), both lacking RNA foci but having aberrant splicing, demonstrate that foci formation and aberrant splicing are independent events and that some core features of DM1 do not depend on the presence of either foci or deviated alternative splicing.
To determine what percentage of affected cells (i.e., cells having either foci or a poly(GP) inclusion) have both nuclear foci and poly(GP) pathology, we analyzed frontal cortex and cerebellar sections of four c9FTD/ALS cases co-stained for either sense or antisense foci and poly(GP) inclusions.
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