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Article
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
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Article
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
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.
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Article
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation
Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent ambulation. Recessive loss-of-funct...
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Article
Open AccessMutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date...