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Article
A novel IRF2BPL truncating variant is associated with endolysosomal storage
De novo mutations in the IRF2BPL gene have been identified to date in 18 patients presenting with neuromotor regression, epilepsy and variable neurological signs. Here, we report a female child carrying a novel h...
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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
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study
Aim of this study is to show the potential of probabilistic tractographic techniques, based on the Constrained Spherical Deconvolution (CSD) algorithms, in recognizing white matter fiber bundle anomalies in pa...
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Article
Open AccessOral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 i...
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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...
