Biallelic mutations in the SLC1A4 gene have been identified as a very rare cause of neurodevelopmental disorders. L-serine transport deficiency has been regarded as the causal molecular mechanism underlying the neurological phenotype of SLC1A4 mutation patients. To date this genetic condition has been reported almost exclusively in a limited...
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2018 (v1)PublicationUploaded on: April 14, 2023
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2014 (v1)Publication
Craniofacial duplication is a very rare malformation. The phenotype comprises a wide spectrum, ranging from partial duplication of few facial structures to complete dicephalus. We report the case of a newborn with an accessory oral cavity associated to duplication of the tongue and the mandible diagnosed by multi-row detector Computed...
Uploaded on: April 14, 2023 -
2016 (v1)Publication
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 patients with complex cerebral malformations, such as cerebellar agenesis. The morphological and tractographic study of a 17-year-old male...
Uploaded on: April 14, 2023 -
2016 (v1)Publication
Purpose The aim of this work was to investigate the diagnostic value of the DIR sequence at 3T MR imaging operating in the evaluation of cortical development anomalies. Methods We studied 40 patients, with a previous diagnosis of cortical dysplasia, by FLAIR-3D, DIR, FSE T2 and MPR-GE T1 sequences at 3T MRI. Two independent observers evaluated,...
Uploaded on: March 27, 2023 -
2017 (v1)Publication
Objective To investigate global and lobular cerebellar volumetries in patients with progressive multiple sclerosis (MS), testing the contribution of cerebellar lobular atrophy to both motor and cognitive performances. Methods Eighty-two patients with progressive MS and 46 healthy controls (HC) were enrolled in this cross-sectional study....
Uploaded on: July 1, 2023