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CAMPANA , Chiara

Last name: CAMPANA

First name: Chiara

2019 (v1)

Publication

Metadata-only

Multiscale Functional Clustering Reveals Frequency Dependent Brain Organization in Type II Focal Cortical Dysplasia with Sleep Hypermotor Epilepsy

Coelli, Stefania Maggioni, Eleonora Rubino, Annalisa

A multiscale functional clustering approach is proposed to investigate the organization of the epileptic networks (EN) during different sleep stages and in relation with the occurrence of seizures.

Uploaded on: April 14, 2023
2022 (v1)

Publication

Metadata-only

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

Fiorillo, Chiara Capodivento, Giovanna Geroldi, Alessandro

Aims SPTLC1-related disorder is a late onset sensory-autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl-CoA transferase (SPT) substrate, l-serine. Recently, a juvenile form of motor neuron disease has been linked to SPTLC1 variants. Variants affecting the...

Uploaded on: May 13, 2023