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

Romina Romaniello,Filippo Arrigoni,Elena Panzeri,Andrea Poretti,Alessia Micalizzi,Andrea Citterio,Maria Francesca Bedeschi,Angela Berardinelli,Raffaella Cusmai,Stefano D’Arrigo,Alessandro Ferraris,Annette Hackenberg,Alma Kuechler,Margherita Mancardi,Sara Nuovo,Barbara Oehl-Jaschkowitz,Andrea Rossi,Sabrina Signorini,Frank Tüttelmann,Dagmar Wahl,Ute Hehr,Eugen Boltshauser,Maria Teresa Bassi,Enza Maria Valente,Renato Borgatti

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

2017

Objective To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations.

Keywords:

Pathology
Fossa
Cerebellar dysplasia
Cerebellar malformation
Dysplasia
Tubulin
Neuroimaging
Cerebellum
Medicine
Anatomy
Mutation
posterior fossa

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