BALDASSARI, SARA
BALDASSARI, SARA
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
2013-01-01 Licchetta L;Pippucci T;Bisulli F;Cantalupo G;Magini P;Alvisi L;Baldassari S;Martinelli P;Naldi I;Vanni N;Liguori R;Seri M;Tinuper P
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31.
2014-01-01 Bisulli F;Naldi I;Baldassari S;Magini P;Licchetta L;Castegnaro G;Fabbri M;Stipa C;Ferrari S;Seri M;Gon?alves Silva GE;Tinuper P;Pippucci T
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies
2019-01-01 Pippucci T.; Licchetta L.; Baldassari S.; Marconi C.; De Luise M.; Myers C.; Nardi E.; Provini F.; Cameli C.; Minardi R.; Bacchelli E.; Giordano L.; Crichiutti G.; d'Orsi G.; Seri M.; Gasparre G.; Mefford H.C.; Tinuper P.; Bisulli F.; Bianchi A.; Striano P.; Gambardella A.; Meletti S.; Dilena R.; Santucci M.; Marini C.; Vignoli A.; Gobbi G.; Briatore E.; Mastrangelo M.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
2022-01-01 Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A; Bennett, Mark F; Damiano, John A; Zsurka, Gábor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stéphanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E; Bahlo, Melanie; Berkovic, Samuel F; Hildebrand, Michael S; Kunz, Wolfram S; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
2021-01-01 Bonduelle T.; Hartlieb T.; Baldassari S.; Sim N.S.; Kim S.H.; Kang H.-C.; Kobow K.; Coras R.; Chipaux M.; Dorfmuller G.; Adle-Biassette H.; Aronica E.; Lee J.H.; Blumcke I.; Baulac S.
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).
2014-01-01 Magini P;Bisulli F;Baldassari S;Stipa C;Naldi I;Licchetta L;Menghi V;Tinuper P;Seri M;Pippucci T
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. | 2013 | Licchetta L;Pippucci T;Bisulli F;Cantalupo G;Magini P;Alvisi L;Baldassari S;Martinelli P;Naldi I;Vanni N;Liguori R;Seri M;Tinuper P | |
| Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. | 2014 | Bisulli F;Naldi I;Baldassari S;Magini P;Licchetta L;Castegnaro G;Fabbri M;Stipa C;Ferrari S;Seri M;Gon?alves Silva GE;Tinuper P;Pippucci T | |
| Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies | 2019 | Pippucci T.; Licchetta L.; Baldassari S.; Marconi C.; De Luise M.; Myers C.; Nardi E.; Provini F.; Cameli C.; Minardi R.; Bacchelli E.; Giordano L.; Crichiutti G.; d'Orsi G.; Seri M.; Gasparre G.; Mefford H.C.; Tinuper P.; Bisulli F.; Bianchi A.; Striano P.; Gambardella A.; Meletti S.; Dilena R.; Santucci M.; Marini C.; Vignoli A.; Gobbi G.; Briatore E.; Mastrangelo M. | |
| Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy | 2022 | Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A; Bennett, Mark F; Damiano, John A; Zsurka, Gábor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stéphanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E; Bahlo, Melanie; Berkovic, Samuel F; Hildebrand, Michael S; Kunz, Wolfram S; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso | |
| Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) | 2021 | Bonduelle T.; Hartlieb T.; Baldassari S.; Sim N.S.; Kim S.H.; Kang H.-C.; Kobow K.; Coras R.; Chipaux M.; Dorfmuller G.; Adle-Biassette H.; Aronica E.; Lee J.H.; Blumcke I.; Baulac S. | |
| LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). | 2014 | Magini P;Bisulli F;Baldassari S;Stipa C;Naldi I;Licchetta L;Menghi V;Tinuper P;Seri M;Pippucci T |