OpenURL Connection Search

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

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration.
Published in:
Movement Disorders Clinical Practice, 2019, v. 6, n. 1, p. 51, doi. 10.1002/mdc3.12693
By:
- Russo, Camilla;
- Ardissone, Anna;
- Freri, Elena;
- Gasperini, Serena;
- Moscatelli, Marco;
- Zorzi, Giovanna;
- Panteghini, Celeste;
- Castellotti, Barbara;
- Garavaglia, Barbara;
- Nardocci, Nardo;
- Chiapparini, Luisa
Publication type:
Article
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.
Published in:
Neurological Sciences, 2021, v. 42, n. 7, p. 2637, doi. 10.1007/s10072-021-05252-9
By:
- Pareyson, Davide;
- Pantaleoni, Chiara;
- Eleopra, Roberto;
- De Filippis, Giuseppe;
- Moroni, Isabella;
- Freri, Elena;
- Zibordi, Federica;
- Bulgheroni, Sara;
- Pagliano, Emanuela;
- Sarti, Daniela;
- Silvani, Antonio;
- Grazzi, Licia;
- Tiraboschi, Pietro;
- Didato, Giuseppe;
- Anghileri, Elena;
- Bersano, Anna;
- Valentini, Laura;
- Piacentini, Sylvie;
- Muscio, Cristina;
- Leonardi, Matilde
Publication type:
Article
Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.
Published in:
Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.872645
By:
- Mosca, Ilaria;
- Rivolta, Ilaria;
- Labalme, Audrey;
- Ambrosino, Paolo;
- Castellotti, Barbara;
- Gellera, Cinzia;
- Granata, Tiziana;
- Freri, Elena;
- Binda, Anna;
- Lesca, Gaetan;
- DiFrancesco, Jacopo C.;
- Soldovieri, Maria Virginia;
- Taglialatela, Maurizio
Publication type:
Article
Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age.
Published in:
Journal of Child Neurology, 2015, v. 30, n. 13, p. 1824, doi. 10.1177/0883073815583687
By:
- Binelli, Simona;
- Ragona, Francesca;
- Canafoglia, Laura;
- Freri, Elena;
- Saletti, Veronica;
- Casazza, Marina;
- Gilioli, Isabella;
- D’Arrigo, Stefano;
- Visani, Elisa;
- Panzica, Ferruccio;
- Granata, Tiziana;
- Riva, Daria;
- Franceschetti, Silvana
Publication type:
Article
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Published in:
Brain: A Journal of Neurology, 2022, v. 145, n. 9, p. 3274, doi. 10.1093/brain/awac164
By:
- Donato, Nataliya Di;
- Guerrini, Renzo;
- Billington, Charles J;
- Barkovich, A James;
- Dinkel, Philine;
- Freri, Elena;
- Heide, Michael;
- Gershon, Elliot S;
- Gertler, Tracy S;
- Hopkin, Robert J;
- Jacob, Suma;
- Keedy, Sarah K;
- Kooshavar, Daniz;
- Lockhart, Paul J;
- Lohmann, Dietmar R;
- Mahmoud, Iman G;
- Parrini, Elena;
- Schrock, Evelin;
- Severi, Giulia;
- Timms, Andrew E
Publication type:
Article
Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients.
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 2, p. 386, doi. 10.1111/j.1528-1167.2010.02925.x
By:
- Ragona, Francesca;
- Granata, Tiziana;
- Bernardina, Bernardo Dalla;
- Offredi, Francesca;
- Darra, Francesca;
- Battaglia, Domenica;
- Morbi, Monica;
- Brazzo, Daniela;
- Cappelletti, Simona;
- Chieffo, Daniela;
- De Giorgi, Ilaria;
- Fontana, Elena;
- Freri, Elena;
- Marini, Carla;
- Toraldo, Alessio;
- Specchio, Nicola;
- Veggiotti, Pierangelo;
- Vigevano, Federico;
- Guerrini, Renzo;
- Guzzetta, Francesco
Publication type:
Article
ICTAL EEG Fast Activity in West Syndrome: From Onset to Outcome.
Published in:
Epilepsia (Series 4), 2007, v. 48, n. 11, p. 2101, doi. 10.1111/j.1528-1167.2007.01264.x
By:
- Panzica, Ferruccio;
- Binelli, Simona;
- Canafoglia, Laura;
- Casazza, Marina;
- Freri, Elena;
- Granata, Tiziana;
- Avanzini, Giuliano;
- Franceschetti, Silvana
Publication type:
Article
Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations.
Published in:
Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1629, doi. 10.1111/j.1528-1167.2006.00641.x
By:
- Mancardi, Maria Margherita;
- Striano, Pasquale;
- Gennaro, Elena;
- Madia, Francesca;
- Paravidino, Roberta;
- Scapolan, Sara;
- dalla Bernardina, Bernardo;
- Bertini, Enrico;
- Bianchi, Amedeo;
- Capovilla, Giuseppe;
- Darra, Francesca;
- Elia, Maurizio;
- Freri, Elena;
- Gobbi, Giuseppe;
- Granata, Tiziana;
- Guerrini, Renzo;
- Pantaleoni, Chiara;
- Parmeggiani, Antonia;
- Romeo, Antonino;
- Santucci, Margherita
Publication type:
Article
Periventricular Nodular Heterotopia: Classification, Epileptic History, and Genesis of Epileptic Discharges.
Published in:
Epilepsia (Series 4), 2006, v. 47, n. 1, p. 86, doi. 10.1111/j.1528-1167.2006.00374.x
By:
- Battaglia, Giorgio;
- Chiapparini, Luisa;
- Franceschetti, Silvana;
- Freri, Elena;
- Tassi, Laura;
- Bassanini, Stefania;
- Villani, Flavio;
- Spreafico, Roberto;
- D'Incerti, Ludovico;
- Granata, Tiziana
Publication type:
Article
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 6, p. 557, doi. 10.1002/ajmg.b.32649
By:
- Rizzo, Ambra;
- Alfei, Enrico;
- Zibordi, Federica;
- Saletti, Veronica;
- Zorzi, Giovanna;
- Freri, Elena;
- Estienne, Margherita;
- Girgenti, Vita;
- D'Arrigo, Stefano;
- Esposito, Silvia;
- Buldrini, Barbara;
- Moroni, Isabella;
- Milani, Donatella;
- Granata, Tiziana;
- Ardissone, Anna;
- Eoli, Marica;
- Molteni, Bruna;
- Bigoni, Stefania;
- Pantaleoni, Chiara;
- Nardocci, Nardo
Publication type:
Article
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 148, doi. 10.1002/ajmg.a.37410
By:
- Nicita, Francesco;
- Garone, Giacomo;
- Spalice, Alberto;
- Savasta, Salvatore;
- Striano, Pasquale;
- Pantaleoni, Chiara;
- Spartà, Maria Valentina;
- Kluger, Gerhard;
- Capovilla, Giuseppe;
- Pruna, Dario;
- Freri, Elena;
- D'Arrigo, Stefano;
- Verrotti, Alberto
Publication type:
Article
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
Published in:
Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00269
By:
- Campostrini, Giulia;
- DiFrancesco, Jacopo C.;
- Castellotti, Barbara;
- Milanesi, Raffaella;
- Gnecchi-Ruscone, Tomaso;
- Bonzanni, Mattia;
- Bucchi, Annalisa;
- Baruscotti, Mirko;
- Ferrarese, Carlo;
- Franceschetti, Silvana;
- Canafoglia, Laura;
- Ragona, Francesca;
- Freri, Elena;
- Labate, Angelo;
- Gambardella, Antonio;
- Costa, Cinzia;
- Gellera, Cinzia;
- Granata, Tiziana;
- Barbuti, Andrea;
- DiFrancesco, Dario
Publication type:
Article
Efficacy of Anti-Inflammatory Therapy in a Model of Acute Seizures and in a Population of Pediatric Drug Resistant Epileptics.
Published in:
PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0018200
By:
- Marchi, Nicola;
- Granata, Tiziana;
- Freri, Elena;
- Ciusani, Emilio;
- Ragona, Francesca;
- Puvenna, Vikram;
- Quingshan Teng;
- Alexopolous, Andreas;
- Janigro, Damir
Publication type:
Article
Treatment with metformin in twelve patients with Lafora disease.
Published in:
2019
By:
- Bisulli, Francesca;
- Muccioli, Lorenzo;
- d'Orsi, Giuseppe;
- Canafoglia, Laura;
- Freri, Elena;
- Licchetta, Laura;
- Mostacci, Barbara;
- Riguzzi, Patrizia;
- Pondrelli, Federica;
- Avolio, Carlo;
- Martino, Tommaso;
- Michelucci, Roberto;
- Tinuper, Paolo
Publication type:
Letter
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Published in:
Developmental Medicine & Child Neurology, 2019, v. 61, n. 12, p. 1439, doi. 10.1111/dmcn.14332
By:
- Remerand, Ganaelle;
- Boespflug‐Tanguy, Odile;
- Tonduti, Davide;
- Touraine, Renaud;
- Rodriguez, Diana;
- Curie, Aurore;
- Perreton, Nathalie;
- Des Portes, Vincent;
- Sarret, Catherine;
- Afenjar, Alexandra;
- Burglen, Lydie;
- Castellotti, Barbara;
- Cuntz, Danielle;
- Desguerre, Isabelle;
- Doummar, Diane;
- Estienne, Margherita;
- Freri, Elena;
- Heron, Delphine;
- Moutard, Marie‐Laure;
- Novara, Francesca
Publication type:
Article
Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis.
Published in:
2019
By:
- Nosadini, Margherita;
- Granata, Tiziana;
- Matricardi, Sara;
- Freri, Elena;
- Ragona, Francesca;
- Papetti, Laura;
- Suppiej, Agnese;
- Valeriani, Massimiliano;
- Sartori, Stefano;
- Bonuccelli, Alice;
- Beccaria, Francesca;
- Buechner, Susanne;
- Buratti, Silvia;
- Cantalupo, Gaetano;
- Cappellari, Alberto;
- Casellato, Susanna;
- Cesaroni, Elisabetta;
- Cimaz, Rolando;
- Cordelli, Duccio Maria;
- Costa, Paola
Publication type:
journal article
Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach.
Published in:
Epilepsia Open, 2024, v. 9, n. 5, p. 1922, doi. 10.1002/epi4.13039
By:
- Castellotti, Barbara;
- Ragona, Francesca;
- Freri, Elena;
- Messina, Giuliana;
- Magri, Stefania;
- Previtali, Roberto;
- Solazzi, Roberta;
- Franceschetti, Silvana;
- Taroni, Franco;
- Canafoglia, Laura;
- Gellera, Cinzia;
- Granata, Tiziana;
- DiFrancesco, Jacopo C.
Publication type:
Article
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Published in:
Epilepsia Open, 2023, v. 8, n. 2, p. 645, doi. 10.1002/epi4.12697
By:
- Castellotti, Barbara;
- Canafoglia, Laura;
- Freri, Elena;
- Tappatà, Maria;
- Messina, Giuliana;
- Magri, Stefania;
- DiFrancesco, Jacopo C.;
- Fanella, Martina;
- Di Bonaventura, Carlo;
- Morano, Alessandra;
- Granata, Tiziana;
- Gellera, Cinzia;
- Franceschetti, Silvana;
- Michelucci, Roberto
Publication type:
Article
A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 12, p. e222, doi. 10.1111/epi.17777
By:
- DiFrancesco, Jacopo C.;
- Ragona, Francesca;
- Murano, Carmen;
- Frosio, Anthony;
- Melgari, Dario;
- Binda, Anna;
- Calamaio, Serena;
- Prevostini, Rachele;
- Mauri, Mario;
- Canafoglia, Laura;
- Castellotti, Barbara;
- Messina, Giuliana;
- Gellera, Cinzia;
- Previtali, Roberto;
- Veggiotti, Pierangelo;
- Milanesi, Raffaella;
- Barbuti, Andrea;
- Solazzi, Roberta;
- Freri, Elena;
- Granata, Tiziana
Publication type:
Article
A novel KCNC1 gain‐of‐function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 7, p. e148, doi. 10.1111/epi.17656
By:
- Ambrosino, Paolo;
- Ragona, Francesca;
- Mosca, Ilaria;
- Vannicola, Chiara;
- Canafoglia, Laura;
- Solazzi, Roberta;
- Rivolta, Ilaria;
- Freri, Elena;
- Granata, Tiziana;
- Messina, Giuliana;
- Castellotti, Barbara;
- Gellera, Cinzia;
- Soldovieri, Maria Virginia;
- DiFrancesco, Jacopo Cosimo;
- Taglialatela, Maurizio
Publication type:
Article
Long‐term effectiveness of add‐on perampanel in patients with Lennox–Gastaut syndrome: A multicenter retrospective study.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 6, p. e98, doi. 10.1111/epi.17601
By:
- Matricardi, Sara;
- Cesaroni, Elisabetta;
- Bonanni, Paolo;
- Foschi, Nicoletta;
- D′Aniello, Alfredo;
- Di Gennaro, Giancarlo;
- Striano, Pasquale;
- Cappanera, Silvia;
- Siliquini, Sabrina;
- Freri, Elena;
- Ragona, Francesca;
- Granata, Tiziana;
- Deleo, Francesco;
- Villani, Flavio;
- Russo, Angelo;
- Messana, Tullio;
- Siri, Laura;
- Bagnasco, Irene;
- Vignoli, Aglaia;
- Operto, Francesca Felicia
Publication type:
Article
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2474, doi. 10.1111/epi.16699
By:
- Matricardi, Sara;
- De Liso, Paola;
- Freri, Elena;
- Costa, Paola;
- Castellotti, Barbara;
- Magri, Stefania;
- Gellera, Cinzia;
- Granata, Tiziana;
- Musante, Luciana;
- Lesca, Gaetan;
- Oertel, Julie;
- Craiu, Dana;
- Hammer, Trine B.;
- Møller, Rikke S.;
- Barisic, Nina;
- Abou Jamra, Rami;
- Polster, Tilman;
- Vigevano, Federico;
- Marini, Carla
Publication type:
Article
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country‐, center‐, and age‐specific variation.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 2, p. 216, doi. 10.1111/epi.16414
By:
- Barba, Carmen;
- Cross, Judith Helen;
- Braun, Kees;
- Cossu, Massimo;
- Klotz, Kerstin Alexandra;
- De Masi, Salvatore;
- Perez Jiménez, Maria Angeles;
- Gaily, Eija;
- Specchio, Nicola;
- Cabral, Pedro;
- Toulouse, Joseph;
- Dimova, Petia;
- Battaglia, Domenica;
- Freri, Elena;
- Consales, Alessandro;
- Cesaroni, Elisabetta;
- Tarta‐Arsene, Oana;
- Gil‐Nagel, Antonio;
- Mindruta, Ioana;
- Di Gennaro, Giancarlo
Publication type:
Article
Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 12, p. 2260, doi. 10.1111/epi.14600
By:
- Trivisano, Marina;
- Pietrafusa, Nicola;
- Terracciano, Alessandra;
- Marini, Carla;
- Mei, Davide;
- Darra, Francesca;
- Accorsi, Patrizia;
- Battaglia, Domenica;
- Caffi, Lorella;
- Canevini, Maria P.;
- Cappelletti, Simona;
- Cesaroni, Elisabetta;
- Palma, Luca;
- Costa, Paola;
- Cusmai, Raffaella;
- Giordano, Lucio;
- Ferrari, Annarita;
- Freri, Elena;
- Fusco, Lucia;
- Granata, Tiziana
Publication type:
Article
Perisylvian, including insular, childhood epilepsy: Presurgical workup and surgical outcome.
Published in:
Epilepsia (Series 4), 2017, v. 58, n. 8, p. 1360, doi. 10.1111/epi.13816
By:
- Freri, Elena;
- Matricardi, Sara;
- Gozzo, Francesca;
- Cossu, Massimo;
- Granata, Tiziana;
- Tassi, Laura
Publication type:
Article
Anakinra usage in febrile infection related epilepsy syndrome: an international cohort.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2467, doi. 10.1002/acn3.51229
By:
- Lai, Yi‐Chen;
- Muscal, Eyal;
- Wells, Elizabeth;
- Shukla, Nikita;
- Eschbach, Krista;
- Hyeong Lee, Ki;
- Kaliakatsos, Marios;
- Desai, Nevedita;
- Wickström, Ronny;
- Viri, Maurizio;
- Freri, Elena;
- Granata, Tiziana;
- Nangia, Srishti;
- Dilena, Robertino;
- Brunklaus, Andreas;
- Wainwright, Mark S.;
- Gorman, Mark P.;
- Stredny, Coral M.;
- Asiri, Abdurhman;
- Hundallah, Khalid
Publication type:
Article
Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases.
Published in:
Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1219244
By:
- Caputo, Davide;
- Franceschetti, Silvana;
- Castellotti, Barbara;
- Freri, Elena;
- Zorzi, G.;
- Saletti, Veronica;
- Canafoglia, Laura;
- Granata, Tiziana
Publication type:
Article
Type II focal cortical dysplasia: Ex vivo 7T magnetic resonance imaging abnormalities and histopathological comparisons.
Published in:
2016
By:
- Zucca, Ileana;
- Milesi, Gloria;
- Medici, Valentina;
- Tassi, Laura;
- Didato, Giuseppe;
- Cardinale, Francesco;
- Tringali, Giovanni;
- Colombo, Nadia;
- Bramerio, Manuela;
- D'Incerti, Ludovico;
- Freri, Elena;
- Morbin, Michela;
- Fugnanesi, Valeria;
- Figini, Matteo;
- Spreafico, Roberto;
- Garbelli, Rita
Publication type:
journal article
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Published in:
Journal of Neurology, 2022, v. 269, n. 7, p. 3597, doi. 10.1007/s00415-022-10974-7
By:
- Orsini, Alessandro;
- Ferrari, Daniele;
- Riva, Antonella;
- Santangelo, Andrea;
- Macrì, Angelo;
- Freri, Elena;
- Canafoglia, Laura;
- D'Aniello, Alfredo;
- Di Gennaro, Giancarlo;
- Massimetti, Gabriele;
- Minetti, Carlo;
- Zara, Federico;
- Michelucci, Roberto;
- Tumber, Anupreet;
- Vincent, Ajoy;
- Minassian, Berge Arakel;
- Striano, Pasquale
Publication type:
Article
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Published in:
Journal of Neurology, 2019, v. 266, n. 6, p. 1439, doi. 10.1007/s00415-019-09280-6
By:
- Castellotti, Barbara;
- Ragona, Francesca;
- Freri, Elena;
- Solazzi, Roberta;
- Ciardullo, Stefano;
- Tricomi, Giovanni;
- Venerando, Anna;
- Salis, Barbara;
- Canafoglia, Laura;
- Villani, Flavio;
- Franceschetti, Silvana;
- Nardocci, Nardo;
- Gellera, Cinzia;
- DiFrancesco, Jacopo C.;
- Granata, Tiziana
Publication type:
Article
Cognitive and neuropsychological evolution in children with anti-NMDAR encephalitis.
Published in:
Journal of Neurology, 2016, v. 263, n. 4, p. 765, doi. 10.1007/s00415-016-8056-9
By:
- Matricardi, Sara;
- Patrini, Mara;
- Freri, Elena;
- Ragona, Francesca;
- Zibordi, Federica;
- Andreetta, Francesca;
- Nardocci, Nardo;
- Granata, Tiziana
Publication type:
Article
Long-term outcome of epilepsy in patients with Prader-Willi syndrome.
Published in:
Journal of Neurology, 2015, v. 262, n. 1, p. 116, doi. 10.1007/s00415-014-7542-1
By:
- Verrotti, Alberto;
- Cusmai, Raffaella;
- Laino, Daniela;
- Falsaperla, Raffaele;
- Margari, Lucia;
- Rizzo, Renata;
- Savasta, Salvatore;
- Grosso, Salvatore;
- Striano, Pasquale;
- Belcastro, Vincenzo;
- Franzoni, Emilio;
- Curatolo, Paolo;
- Giordano, Lucio;
- Freri, Elena;
- Matricardi, Sara;
- Pruna, Dario;
- Toldo, Irene;
- Tozzi, Elisabetta;
- Lobefalo, Lucio;
- Operto, Francesca
Publication type:
Article
Erratum to: Long-term outcome of epilepsy in patients with Prader-Willi syndrome.
Published in:
2015
By:
- Verrotti, Alberto;
- Cusmai, Raffaella;
- Laino, Daniela;
- Carotenuto, Marco;
- Esposito, Maria;
- Falsaperla, Raffaele;
- Margari, Lucia;
- Rizzo, Renata;
- Savasta, Salvatore;
- Grosso, Salvatore;
- Striano, Pasquale;
- Belcastro, Vincenzo;
- Franzoni, Emilio;
- Curatolo, Paolo;
- Giordano, Lucio;
- Freri, Elena;
- Matricardi, Sara;
- Pruna, Dario;
- Toldo, Irene;
- Tozzi, Elisabetta
Publication type:
Erratum
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Published in:
Cerebral Cortex, 2023, v. 33, n. 17, p. 9709, doi. 10.1093/cercor/bhad235
By:
- Specchio, Nicola;
- Trivisano, Marina;
- Lenge, Matteo;
- Ferretti, Alessandro;
- Mei, Davide;
- Parrini, Elena;
- Napolitano, Antonio;
- Rossi-Espagnet, Camilla;
- Talenti, Giacomo;
- Longo, Daniela;
- Proietti, Jacopo;
- Ragona, Francesca;
- Freri, Elena;
- Solazzi, Roberta;
- Granata, Tiziana;
- Darra, Francesca;
- Bernardina, Bernardo Dalla;
- Vigevano, Federico;
- Guerrini, Renzo
Publication type:
Article
Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.
Published in:
Acta Neurologica Scandinavica, 2018, v. 138, n. 6, p. 523, doi. 10.1111/ane.13006
By:
- Verrotti, Alberto;
- Greco, Marco;
- Varriale, Gaia;
- Tamborino, Agnese;
- Savasta, Salvatore;
- Carotenuto, Marco;
- Elia, Maurizio;
- Operto, Francesca;
- Margari, Lucia;
- Belcastro, Vincenzo;
- Selicorni, Angelo;
- Freri, Elena;
- Matricardi, Sara;
- Granata, Tiziana;
- Ragona, Francesca;
- Capovilla, Giuseppe;
- Spalice, Alberto;
- Coppola, Giangennaro;
- Striano, Pasquale
Publication type:
Article
Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.
Published in:
Movement Disorders, 2024, v. 39, n. 7, p. 1238, doi. 10.1002/mds.29793
By:
- Freri, Elena;
- Canafoglia, Laura;
- Ciaccio, Claudia;
- Rossi Sebastiano, Davide;
- Caputo, Davide;
- Solazzi, Roberta;
- Sciacca, Francesca L.;
- Iascone, Maria;
- Panzica, Ferruccio;
- Granata, Tiziana;
- Franceschetti, Silvana;
- Nardocci, Nardo
Publication type:
Article
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 3, p. 260, doi. 10.1002/humu.23140
By:
- Novara, Francesca;
- Groeneweg, Stefan;
- Freri, Elena;
- Estienne, Margherita;
- Reho, Paolo;
- Matricardi, Sara;
- Castellotti, Barbara;
- Visser, W. Edward;
- Zuffardi, Orsetta;
- Visser, Theo J.
Publication type:
Article
International Consensus Based Review and Recommendations for Minimum Reporting Standards in Research on Transcutaneous Vagus Nerve Stimulation (Version 2020).
Published in:
Frontiers in Human Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fnhum.2020.568051
By:
- Farmer, Adam D.;
- Strzelczyk, Adam;
- Finisguerra, Alessandra;
- Gourine, Alexander V.;
- Gharabaghi, Alireza;
- Hasan, Alkomiet;
- Burger, Andreas M.;
- Jaramillo, Andrés M.;
- Mertens, Ann;
- Majid, Arshad;
- Verkuil, Bart;
- Badran, Bashar W.;
- Ventura-Bort, Carlos;
- Gaul, Charly;
- Beste, Christian;
- Warren, Christopher M.;
- Quintana, Daniel S.;
- Hämmerer, Dorothea;
- Freri, Elena;
- Frangos, Eleni
Publication type:
Article
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Published in:
2022
By:
- Rinaldi, Berardo;
- Ge, Yu‑Han;
- Freri, Elena;
- Tucci, Arianna;
- Granata, Tiziana;
- Estienne, Margherita;
- Sun, Jia‑Hui;
- Gérard, Bénédicte;
- Bayat, Allan;
- Efthymiou, Stephanie;
- Gervasini, Cristina;
- Shi, Yun Stone;
- Houlden, Henry;
- Marchisio, Paola;
- Milani, Donatella
Publication type:
Correction Notice
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Published in:
Neurogenetics, 2022, v. 23, n. 1, p. 27, doi. 10.1007/s10048-021-00666-1
By:
- Rinaldi, Berardo;
- Ge, Yu-Han;
- Freri, Elena;
- Tucci, Arianna;
- Granata, Tiziana;
- Estienne, Margherita;
- Sun, Jia-Hui;
- Gérard, Bénédicte;
- Bayat, Allan;
- Efthymiou, Stephanie;
- Gervasini, Cristina;
- Shi, Yun Stone;
- Houlden, Henry;
- Marchisio, Paola;
- Milani, Donatella
Publication type:
Article
Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP<sub>2</sub>-Dependent K<sup>+</sup> Channel Gating.
Published in:
Molecular Neurobiology, 2018, v. 55, n. 8, p. 7009, doi. 10.1007/s12035-018-0883-5
By:
- Ambrosino, Paolo;
- Freri, Elena;
- Castellotti, Barbara;
- Soldovieri, Maria Virginia;
- Mosca, Ilaria;
- Manocchio, Laura;
- Gellera, Cinzia;
- Canafoglia, Laura;
- Franceschetti, Silvana;
- Salis, Barbara;
- Iraci, Nunzio;
- Miceli, Francesco;
- Ragona, Francesca;
- Granata, Tiziana;
- DiFrancesco, Jacopo C.;
- Taglialatela, Maurizio
Publication type:
Article
FDG-PET assessment and metabolic patterns in Lafora disease.
Published in:
European Journal of Nuclear Medicine & Molecular Imaging, 2020, v. 47, n. 6, p. 1576, doi. 10.1007/s00259-019-04647-3
By:
- Muccioli, Lorenzo;
- Farolfi, Andrea;
- Pondrelli, Federica;
- d'Orsi, Giuseppe;
- Michelucci, Roberto;
- Freri, Elena;
- Canafoglia, Laura;
- Licchetta, Laura;
- Toni, Francesco;
- Bonfiglioli, Rachele;
- Civollani, Simona;
- Pettinato, Cinzia;
- Maietti, Elisa;
- Marotta, Giorgio;
- Fanti, Stefano;
- Tinuper, Paolo;
- Bisulli, Francesca
Publication type:
Article
Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.
Published in:
Frontiers in Cellular Neuroscience, 2024, p. 01, doi. 10.3389/fncel.2024.1367838
By:
- Mosca, Ilaria;
- Freri, Elena;
- Ambrosino, Paolo;
- Belperio, Giorgio;
- Granata, Tiziana;
- Canafoglia, Laura;
- Ragona, Francesca;
- Solazzi, Roberta;
- Filareto, Ilaria;
- Castellotti, Barbara;
- Messina, Giuliana;
- Gellera, Cinzia;
- DiFrancesco, Jacopo C.;
- Soldovieri, Maria Virginia;
- Taglialatela, Maurizio
Publication type:
Article

Found: 43