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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Romina RomanielloFilippo ArrigoniElena PanzeriAndrea PorettiAlessia MicalizziAndrea CitterioMaria Francesca BedeschiAngela BerardinelliRaffaella CusmaiStefano D'ArrigoAlessandro FerrarisAnnette HackenbergAlma KuechlerMargherita MancardiSara NuovoBarbara Oehl-JaschkowitzAndrea RossiSabrina SignoriniFrank TüttelmannDagmar WahlUte HehrEugen BoltshauserMaria Teresa BassiEnza Maria ValenteRenato Borgatti
Published in: European radiology (2017)
• Cortical cerebellar dysplasia without cysts is suggestive of tubulin-related disorder. • Cerebellar dysplasia in tubulinopathies shows specific features labelled as 'tubulin-related CD'. • Focal and unilateral involvement of cerebellar hemispheres has important implications for counselling.
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