Search Results - "Stella Vari, Maria"

New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment by Riva, Antonella, Golda, Alice, Balagura, Ganna, Amadori, Elisabetta, Vari, Maria Stella, Piccolo, Gianluca, Iacomino, Michele, Lattanzi, Simona, Salpietro, Vincenzo, Minetti, Carlo, Striano, Pasquale

“…Despite the wide availability of novel anti-seizure medications (ASMs), 30% of patients with epilepsy retain persistent seizures with a significant burden in…”
Get full text

Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis by Cordani, Ramona, Micalizzi, Concetta, Giacomini, Thea, Gastaldi, Matteo, Franciotta, Diego, Fioredda, Francesca, Buratti, Silvia, Morana, Giovanni, Pirlo, Daniela, Renna, Salvatore, Castagnola, Elio, Risso, Marco, Lanteri, Paola, Vari, Maria Stella, Mancardi, Maria Margherita

“…Anti-N-methyl-d-aspartate receptor encephalitis is a central nervous system inflammatory autoimmune disease affecting adults and children. The use of first-…”
Get full text

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet by Cappuccio, Gerarda, Pinelli, Michele, Alagia, Marianna, Donti, Taraka, Day-Salvatore, Debra-Lynn, Veggiotti, Pierangelo, De Giorgis, Valentina, Lunghi, Simona, Vari, Maria Stella, Striano, Pasquale, Brunetti-Pierri, Nicola, Kennedy, Adam D, Elsea, Sarah H

“…Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the…”
Get full text

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy by Stella Vari, Maria, Traverso, Monica, Bellini, Tommaso, Madia, Francesca, Pinto, Francesca, Striano, Pasquale, Minetti, Carlo, Zara, Federico

“…The Publisher regrets that this article is an accidental duplication of an article that has already been published in Seizure 50 (2017) 80–82,…”
Get full text

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project by Amadori, Elisabetta, Scala, Marcello, Cereda, Giulia Sofia, Vari, Maria Stella, Marchese, Francesca, Di Pisa, Veronica, Mancardi, Maria Margherita, Giacomini, Thea, Siri, Laura, Vercellino, Fabiana, Serino, Domenico, Orsini, Alessandro, Bonuccelli, Alice, Bagnasco, Irene, Papa, Amanda, Minetti, Carlo, Cordelli, Duccio Maria, Striano, Pasquale

“…Abstract Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile…”
Get full text

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 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, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K, Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, Salpietro, Vincenzo

“…Abstract Background Pathogenic variants in PEX -genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized…”
Get full text

Acute Neurological Presentation in Children With SARS-CoV-2 Infection by Riva, Antonella, Piccolo, Gianluca, Balletti, Federica, Binelli, Maria, Brolatti, Noemi, Verrotti, Alberto, Amadori, Elisabetta, Spalice, Alberto, Giacomini, Thea, Mancardi, Maria Margherita, Iannetti, Paola, Vari, Maria Stella, Piccotti, Emanuela, Striano, Pasquale, Brisca, Giacomo

“…In the pediatric population, the knowledge of the acute presentation of SARS-CoV-2 infection is mainly limited to small series and case reports, particularly…”
Get full text

A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy by Riva, Antonella, Roberti, Roberta, D'Onofrio, Gianluca, Vari, Maria Stella, Amadori, Elisabetta, De Giorgis, Valentina, Cerminara, Caterina, Specchio, Nicola, Pietrafusa, Nicola, Tombini, Mario, Assenza, Giovanni, Cappanera, Silvia, Marini, Carla, Rasmini, Paolo, Veggiotti, Pierangelo, Zara, Federico, Russo, Emilio, Striano, Pasquale

“…Response to antiseizure medications (ASMs) can be influenced by several gene polymorphisms, causing either lower efficacy or higher occurrence of adverse drug…”
Get full text

Todd Paralysis in Rolandic Epilepsy by Striano, Pasquale, Vari, Maria Stella

“…Investigators from University of Gaziantep, Turkey described the clinical and EEG findings of patients with benign epilepsy of childhood with centrotemporal…”
Get full text

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy by Plecko, Barbara, Zweier, Markus, Begemann, Anaïs, Mathis, Deborah, Schmitt, Bernhard, Striano, Pasquale, Baethmann, Martina, Vari, Maria Stella, Beccaria, Francesca, Zara, Federico, Crowther, Lisa M, Joset, Pascal, Sticht, Heinrich, Papuc, Sorina Mihaela, Rauch, Anita

“…Vitamin-B -dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes ( or ). In neonatal seizures, defects in…”
Get more information

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease by Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S, Vezyroglou, Katharina, Varadkar, Sophia M, Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S, Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L, Desai, Sonal, Smith-Hicks, Constance L, Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M, Striano, Pasquale, Thomas, Rhys H, Micallef, Caroline, Thom, Maria, Werring, David J, Kluger, Gerhard Josef, Cross, J Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M

“…OBJECTIVETo characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype–phenotype correlation. METHODSWe analyzed clinical,…”
Get full text

Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series by Ronzano, Nadia, Scala, Marcello, Abiusi, Emanuela, Contaldo, Ilaria, Leoni, Chiara, Vari, Maria Stella, Pisano, Tiziana, Battaglia, Domenica, Genuardi, Maurizio, Elia, Maurizio, Striano, Pasquale, Pruna, Dario

“…PURPOSEEEG anomalies and epilepsy are a not so rare clinical manifestation in patients with Phosphatase and tensin homolog (PTEN) variants. The main aim of…”
Get full text

Management of genetic epilepsies: From empirical treatment to precision medicine by Striano, Pasquale, Vari, Maria Stella, Mazzocchetti, Chiara, Verrotti, Alberto, Zara, Federico

“…[Display omitted] Despite the over 20 antiepileptic drugs (AEDs) now licensed for epilepsy treatment, seizures can be effectively controlled in about ⿼70% of…”
Get full text

A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome by Terrone, Gaetano, Marchese, Francesca, Vari, Maria Stella, Severino, Mariasavina, Madia, Francesca, Amadori, Elisabetta, Del Giudice, Ennio, Romano, Alfonso, Gennaro, Elena, Zara, Federico, Striano, Pasquale

Get full text

Multiorgan mitochondrial dysfunction is not a main feature of MFN2 mutations (Reply to: CMT2 due to homozygous MFN2 variants is a multiorgan mitochondrial disorder) by Striano, Pasquale, Iapadre, Giulia, Vari, Maria Stella, Verrotti, Alberto

Get full text

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females by Scala, Marcello, Torella, Annalaura, Severino, Mariasavina, Morana, Giovanni, Castello, Raffaele, Accogli, Andrea, Verrico, Antonio, Vari, Maria Stella, Cappuccio, Gerarda, Pinelli, Michele, Vitiello, Giuseppina, Terrone, Gaetano, D'Amico, Alessandra, Nigro, Vincenzo, Capra, Valeria

“…De novo DDX3X variants account for 1-3% of syndromic intellectual disability (ID) in females and have been occasionally reported in males. Furthermore, somatic…”
Get full text

Electroencephalographic findings in ATRX syndrome: A new case series and review of literature by Aiello, Salvatore, Mancardi, Maria Margherita, Romano, Alfonso, Santucci, Margherita, Scaduto, Maria Cristina, Vari, Maria Stella, Striano, Pasquale, Operto, Francesca Felicia, Elia, Maurizio, Vitiello, Giuseppina, Del Giudice, Ennio, Terrone, Gaetano

Get full text

A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus by Roberti, Roberta, Riva, Antonella, D'Onofrio, Gianluca, Giacheri, Emanuele, Amadori, Elisabetta, Vari, Maria Stella, La Neve, Angela, Vigevano, Federico, Verrotti, Alberto, Cordelli, Duccio Maria, Romeo, Antonino, Palmieri, Antonella, Mancardi, Maria Margherita, Caglieris, Sergio, Varone, Antonio, Minetti, Carlo, Russo, Emilio, Buratti, Silvia, Striano, Pasquale

Get more information

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype by Iapadre, Giulia, Morana, Giovanni, Vari, Maria Stella, Pinto, Francesca, Lanteri, Paola, Tessa, Alessandra, Santorelli, Filippo Maria, Striano, Pasquale, Verrotti, Alberto

“…Charcot-Marie-Tooth (CMT) neuropathies represent the most common forms of inherited polyneuropathies. CMT2A, the axonal form, accounts for about one third of…”
Get full text

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy by Scala, Marcello, Amadori, Elisabetta, Fusco, Lucia, Marchese, Francesca, Capra, Valeria, Minetti, Carlo, Vari, Maria Stella, Striano, Pasquale

“…GRIN1 encodes the obligate subunit (GluN1) of glutamate N-methyl-d-aspartate receptor (NMDAr). Pathogenic variants in GRIN1 are a well-known cause of infantile…”
Get full text