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

Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia , Citterio, Andrea , Bedeschi, Maria Francesca, Berardinelli, Angela, Cusmai, Raffaella, D’Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara , Oehl-Jaschkowitz, Barbara, Rossi, Andrea , Signorini, Sabrina, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, Enza Maria and Borgatti, Renato (2017) Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology 27 (12), pp. 5080-5092.

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Other URL: http://doi.org/10.1007/s00330-017-4945-2


Abstract

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. Twenty-eight patients harbouring 23 heterozygous pathogenic variants (ten novel) in tubulin genes TUBA1A (n = 10), TUBB2B (n = 8) or TUBB3 (n = 5) were studied by a brain MRI scan performed ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1007/s00330-017-4945-2DOI
Keywords:ASYMMETRICAL POLYMICROGYRIA; MICROTUBULE DYNAMICS; CORTICAL DEVELOPMENT; BRAIN MALFORMATIONS; NEURONAL MIGRATION; WIDE SPECTRUM; AXON GUIDANCE; MUTATIONS; TUBB2B; ALPHA; Tubulin genes; Cerebellum; Dysplasia; Mutation; Neuroimaging
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:39543
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