Article
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.
European radiology - 1 Feb 2019
Arrigoni Filippo, Romaniello Romina, Peruzzo Denis, Poretti Andrea, Bassi Maria Teresa, Pierpaoli Carlo, Valente Enza Maria, Nuovo Sara, Boltshauser Eugen, Huisman Thierry André Gerard Marie, Triulzi Fabio, Borgatti Renato
Abstract excerpt
OBJECTIVES: To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). METHODS: Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study....
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