1. A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease. Issue 1 (March 2014) Authors: Saracchi, Enrico; Castelli, Marianna; Bassi, Maria T.; Brighina, Erika; Cereda, Diletta; Marzorati, Laura; Patassini, Mirko; Appollonio, Ildebrando; Ferrarese, Carlo; Brighina, Laura Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 15:Issue 1/2(2014) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel neurofibromatosis type 2 mutation presenting with status epilepticus. Issue 1 (March 2014) Authors: DiFrancesco, Jacopo C.; Sestini, Roberta; Cossu, Federica; Bolognesi, Martino; Sala, Elena; Mariani, Silvana; Saracchi, Enrico; Papi, Laura; Ferrarese, Carlo Journal: Epileptic disorders Issue: Volume 16:Issue 1(2014:Mar.) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗