1. Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. (April 2017) Authors: Ragona, Francesca; Castellotti, Barbara; Salis, Barbara; Magri, Stefania; DiFrancesco, Jacopo C.; Nardocci, Nardo; Franceschetti, Silvana; Gellera, Cinzia; Granata, Tiziana Journal: Seizure Issue: Volume 47(2017) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia. (14th February 2018) Authors: DiFrancesco, Jacopo C; Isimbaldi, Giuseppe; Bedeschi, Maria Francesca; Castellotti, Barbara Journal: BMJ case reports Issue: Volume 2018 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome. Issue 3 (5th January 2017) Authors: Novara, Francesca; Groeneweg, Stefan; Freri, Elena; Estienne, Margherita; Reho, Paolo; Matricardi, Sara; Castellotti, Barbara; Visser, W. Edward; Zuffardi, Orsetta; Visser, Theo J. Journal: Human mutation Issue: Volume 38:Issue 3(2017) Page Start: 260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. (21st March 2023) Authors: Carapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J.; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F. Lucy; Rowitch, David H.; Solazzi, Roberta; Vercellino, Fabiana; De ... Journal: Neurology Issue: Volume 100:Number 12(2023) Page Start: e1234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Issue 7 (July 2020) Authors: Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Casti... Journal: Lancet Issue: Volume 8:Issue 7(2020) Page Start: 594 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Issue 7 (July 2020) Authors: Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautam P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Casti... Journal: Lancet Issue: Volume 8:Issue 7(2020) Page Start: 594 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients?. (November 2021) Authors: Porro, Alessandro; Abbandonato, Gerardo; Veronesi, Valentina; Russo, Alberto; Binda, Anna; Antolini, Laura; Granata, Tiziana; Castellotti, Barbara; Marini, Carla; Moroni, Anna; DiFrancesco, Jacopo C.; Rivolta, Ilaria Journal: Progress in biophysics and molecular biology Issue: Volume 166(2021) Page Start: 147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Early Parkinsonism in a Senegalese girl with Lafora disease. Issue 2 (1st June 2020) Authors: Ragona, Francesca; Canafoglia, Laura; Castellotti, Barbara; Solazzi, Roberta; Gabbiadini, Sara; Freri, Elena; Scaioli, Vidmer; DiFrancesco, Jacopo Cosimo; Gellera, Cinzia; Granata, Tiziana Journal: Epileptic disorders Issue: Volume 22:Issue 2(2020) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy. (October 2020) Authors: Soldovieri, Maria Virginia; Freri, Elena; Ambrosino, Paolo; Rivolta, Ilaria; Mosca, Ilaria; Binda, Anna; Murano, Carmen; Ragona, Francesca; Canafoglia, Laura; Vannicola, Chiara; Solazzi, Roberta; Granata, Tiziana; Castellotti, Barbara; Messina, Giuliana; Gellera, Cinzia; Labalme, Audrey; Lesca, G... Journal: Pharmacological research Issue: Volume 160(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants. (December 2020) Authors: Malerba, Federica; Alberini, Giulio; Balagura, Ganna; Marchese, Francesca; Amadori, Elisabetta; Riva, Antonella; Vari, Maria Stella; Gennaro, Elena; Madia, Francesca; Salpietro, Vincenzo; Angriman, Marco; Giordano, Lucio; Accorsi, Patrizia; Trivisano, Marina; Specchio, Nicola; Russo, Angelo; Gobb... Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗