OpenURL Connection Search

Select item for more details and to access through your institution.

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Published in:
2018
By:
- Fruscione, Floriana;
- Valente, Pierluigi;
- Sterlini, Bruno;
- Romei, Alessandra;
- Baldassari, Simona;
- Fadda, Manuela;
- Prestigio, Cosimo;
- Giansante, Giorgia;
- Sartorelli, Jacopo;
- Rossi, Pia;
- Rubio, Alicia;
- Gambardella, Antonio;
- Nieus, Thierry;
- Broccoli, Vania;
- Fassio, Anna;
- Baldelli, Pietro;
- Corradi, Anna;
- Zara, Federico;
- Benfenati, Fabio
Publication type:
journal article
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810545
By:
- Baldassari, Simona;
- Cervetto, Chiara;
- Amato, Sarah;
- Fruscione, Floriana;
- Balagura, Ganna;
- Pelassa, Simone;
- Musante, Ilaria;
- Iacomino, Michele;
- Traverso, Monica;
- Corradi, Anna;
- Scudieri, Paolo;
- Maura, Guido;
- Marcoli, Manuela;
- Zara, Federico
Publication type:
Article
Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020482
By:
- Sterlini, Bruno;
- Fruscione, Floriana;
- Baldassari, Simona;
- Benfenati, Fabio;
- Zara, Federico;
- Corradi, Anna
Publication type:
Article
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Published in:
Cerebellum, 2023, v. 22, n. 2, p. 206, doi. 10.1007/s12311-022-01379-3
By:
- Accogli, Andrea;
- Lu, Shenzhao;
- Musante, Ilaria;
- Scudieri, Paolo;
- Rosenfeld, Jill A.;
- Severino, Mariasavina;
- Baldassari, Simona;
- Iacomino, Michele;
- Riva, Antonella;
- Balagura, Ganna;
- Piccolo, Gianluca;
- Minetti, Carlo;
- Roberto, Denis;
- Xia, Fan;
- Razak, Razaali;
- Lawrence, Emily;
- Hussein, Mohamed;
- Chang, Emmanuel Yih-Herng;
- Holick, Michelle;
- Calì, Elisa
Publication type:
Article
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44611-2
By:
- Accogli, Andrea;
- Shakya, Saurabh;
- Yang, Taewoo;
- Insinna, Christine;
- Kim, Soo Yeon;
- Bell, David;
- Butov, Kirill R.;
- Severino, Mariasavina;
- Niceta, Marcello;
- Scala, Marcello;
- Lee, Hyun Sik;
- Yoo, Taekyeong;
- Stauffer, Jimmy;
- Zhao, Huijie;
- Fiorillo, Chiara;
- Pedemonte, Marina;
- Diana, Maria C.;
- Baldassari, Simona;
- Zakharova, Viktoria;
- Shcherbina, Anna
Publication type:
Article
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2 -Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.
Published in:
Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.704747
By:
- Piccolo, Gianluca;
- d'Annunzio, Giuseppe;
- Amadori, Elisabetta;
- Riva, Antonella;
- Borgia, Paola;
- Tortora, Domenico;
- Maghnie, Mohamad;
- Minetti, Carlo;
- Gitto, Eloisa;
- Iacomino, Michele;
- Baldassari, Simona;
- Fiorillo, Chiara;
- Zara, Federico;
- Striano, Pasquale;
- Salpietro, Vincenzo
Publication type:
Article
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein.
Published in:
PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032180
By:
- Gazzerro, Elisabetta;
- Baldassari, Simona;
- Giacomini, Caterina;
- Musante, Veronica;
- Fruscione, Floriana;
- Padula, Veronica La;
- Biancheri, Roberta;
- Scarfì, Sonia;
- Prada, Valeria;
- Sotgia, Federica;
- Duncan, Ian D.;
- Zara, Federico;
- Werner, Hauke B.;
- Lisanti, Michael P.;
- Nobbio, Lucilla;
- Corradi, Anna;
- Minetti, Carlo
Publication type:
Article
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Published in:
Cancers, 2023, v. 15, n. 6, p. 1916, doi. 10.3390/cancers15061916
By:
- Ognibene, Marzia;
- Scala, Marcello;
- Iacomino, Michele;
- Schiavetti, Irene;
- Madia, Francesca;
- Traverso, Monica;
- Guerrisi, Sara;
- Di Duca, Marco;
- Caroli, Francesco;
- Baldassari, Simona;
- Tappino, Barbara;
- Romano, Ferruccio;
- Uva, Paolo;
- Vozzi, Diego;
- Chelleri, Cristina;
- Piatelli, Gianluca;
- Diana, Maria Cristina;
- Zara, Federico;
- Capra, Valeria;
- Pavanello, Marco
Publication type:
Article
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Published in:
Cancers, 2021, v. 13, n. 8, p. 1879, doi. 10.3390/cancers13081879
By:
- Scala, Marcello;
- Schiavetti, Irene;
- Madia, Francesca;
- Chelleri, Cristina;
- Piccolo, Gianluca;
- Accogli, Andrea;
- Riva, Antonella;
- Salpietro, Vincenzo;
- Bocciardi, Renata;
- Morcaldi, Guido;
- Di Duca, Marco;
- Caroli, Francesco;
- Verrico, Antonio;
- Milanaccio, Claudia;
- Viglizzo, Gianmaria;
- Traverso, Monica;
- Baldassari, Simona;
- Scudieri, Paolo;
- Iacomino, Michele;
- Piatelli, Gianluca
Publication type:
Article
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.
Published in:
Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00644
By:
- Iacomino, Michele;
- Baldassari, Simona;
- Tochigi, Yuki;
- Kośla, Katarzyna;
- Buffelli, Francesca;
- Torella, Annalaura;
- Severino, Mariasavina;
- Paladini, Dario;
- Mandarà, Luana;
- Riva, Antonella;
- Scala, Marcello;
- Balagura, Ganna;
- Accogli, Andrea;
- Nigro, Vincenzo;
- Minetti, Carlo;
- Fulcheri, Ezio;
- Zara, Federico;
- Bednarek, Andrzej K.;
- Striano, Pasquale;
- Suzuki, Hiroetsu
Publication type:
Article
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Published in:
2022
By:
- Borgia, Paola;
- Baldassari, Simona;
- Pedemonte, Nicoletta;
- Alkhunaizi, Ebba;
- D'Onofrio, Gianluca;
- Tortora, Domenico;
- Calì, Elisa;
- Scudieri, Paolo;
- Balagura, Ganna;
- Musante, Ilaria;
- Diana, Maria Cristina;
- Pedemonte, Marina;
- Vari, Maria Stella;
- Iacomino, Michele;
- Riva, Antonella;
- Chimenz, Roberto;
- Mangano, Giuseppe D.;
- Mohammadi, Mohammad Hasan;
- Toosi, Mehran Beiraghi;
- Ashrafzadeh, Farah
Publication type:
journal article
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
Published in:
Birth Defects Research, 2022, v. 114, n. 20, p. 1440, doi. 10.1002/bdr2.2113
By:
- Romano, Ferruccio;
- Madia, Francesca;
- De Marco, Patrizia;
- Ognibene, Marzia;
- Guerrisi, Sara;
- Scala, Marcello;
- Iacomino, Michele;
- Baldassari, Simona;
- Vercellino, Nadia;
- Manunza, Francesca;
- Tallone, Ramona;
- Pavanello, Marco;
- Piatelli, Gianluca;
- Garaventa, Alberto;
- Zara, Federico;
- Capra, Valeria
Publication type:
Article
The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.
Published in:
Birth Defects Research, 2021, v. 113, n. 15, p. 1161, doi. 10.1002/bdr2.1936
By:
- Romano, Ferruccio;
- De Marco, Patrizia;
- Ognibene, Marzia;
- Di Duca, Marco;
- Baldassari, Simona;
- Pavanello, Marco;
- Piatelli, Gianluca;
- Zara, Federico;
- Capra, Valeria
Publication type:
Article
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.
Published in:
Biomedicines, 2020, v. 8, n. 9, p. 332, doi. 10.3390/biomedicines8090332
By:
- Jaudon, Fanny;
- Baldassari, Simona;
- Musante, Ilaria;
- Thalhammer, Agnes;
- Zara, Federico;
- Cingolani, Lorenzo A.
Publication type:
Article
CFTR Rescue by Lumacaftor (VX-809) Induces an Extensive Reorganization of Mitochondria in the Cystic Fibrosis Bronchial Epithelium.
Published in:
Cells (2073-4409), 2022, v. 11, n. 12, p. 1938, doi. 10.3390/cells11121938
By:
- Braccia, Clarissa;
- Christopher, Josie A.;
- Crook, Oliver M.;
- Breckels, Lisa M.;
- Queiroz, Rayner M. L.;
- Liessi, Nara;
- Tomati, Valeria;
- Capurro, Valeria;
- Bandiera, Tiziano;
- Baldassari, Simona;
- Pedemonte, Nicoletta;
- Lilley, Kathryn S.;
- Armirotti, Andrea
Publication type:
Article
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Published in:
Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1268013
By:
- Iacomino, Michele;
- Houerbi, Nadia;
- Fortuna, Sara;
- Howe, Jennifer;
- Shan Li;
- Scorrano, Giovanna;
- Riva, Antonella;
- Kai-Wen Cheng;
- Steiman, Mandy;
- Peltekova, Iskra;
- Yusuf, Afiqah;
- Baldassari, Simona;
- Tamburro, Serena;
- Scudieri, Paolo;
- Musante, Ilaria;
- Di Ludovico, Armando;
- Guerrisi, Sara;
- Balagura, Ganna;
- Corsello, Antonio;
- Efthymiou, Stephanie
Publication type:
Article
Spontaneous Optic Nerve Compression in the Osteopetrotic (op/op) Mouse: A Novel Model of Myelination Failure.
Published in:
Journal of Neuroscience, 2013, v. 33, n. 8, p. 3514, doi. 10.1523/JNEUROSCI.4849-12.2013
By:
- Kondo, Yoichi;
- Ramaker, Jenna M.;
- Radcliff, Abigail B.;
- Baldassari, Simona;
- Mayer, Joshua A.;
- Ver Hoeve, James N.;
- Zhang, Chuan-Li;
- Chiu, Shing-Yan;
- Colello, Raymond J.;
- Duncan, Ian D.
Publication type:
Article

Found: 17