Sfoglia per Autore
Response to rituximab in 3 children with opsoclonus-myoclonus syndrome resistant to conventional treatments.
2012-01-01 Battaglia, T; DE GRANDIS, Elisa; MIRABELLI BADENIER, MARISOL ELENA; Boeri, L; Morcaldi, Guido; Barabino, P; Intra, C; Naselli, F; Pistoia, V; Veneselli, EDVIGE MARIA; Conte, M.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
2012-01-01 Heinzen, El; Swoboda, Kj; Hitomi, Y; Gurrieri, F; De Vries, B; Tiziano, Fd; Fontaine, B; Walley, Nm; Heavin, S; Panagiotakaki, El; Fiori, S; Abiusi, E; Di Pietro, L; Sweney, Mt; Newcomb, Tm; Viollet, L; Huff, C; Jorde, Lb; Reyna, Sp; Murphy, K; Shianna, Kv; Gumbs, Ce; Little, L; Silver, K; Ptáček, Lj; Haan, J; Ferrari, Md; Bye, Am; Herkes, Gk; Whitelaw, Cm; Webb, D; Lynch, Bj; Uldall, P; King, Md; Scheffer, Ie; Neri, G; Arzimanoglou, A; Van Den Maagdenberg, A; Sisodiya, Sm; Mikati, Ma; Goldstein, Db; Koelewijn, S; Kamphorst, J; Geilenkirchen, M; Pelzer, N; Ferrari, M; Van Den Maagdenberg, A; Zucca, C; Franchini, F; Vavassori, R; Giannotta, M; Gobbi, G; Granata, T; Nardocci, N; De Grandis, E; Veneselli, E; Stagnaro, M; Vigevano, F; Oechsler, C; Nicole, S; Ninan, M; Neville, B; Ebinger, F; Fons, C; Campistol, J; Kemlink, D; Nevsimalova, S; Laan, L; Peetersscholte, C; Casaer, P; Casari, G; Sange, G; Spiel, G; Boneschi, Fm; Bassi, M; Schyns, T; Crawley, F; Poncelin, D.
Lack of SLC2A1 (Glucose Transporter 1) Mutations in 30 Italian Patients With Alternating Hemiplegia of Childhood.
2013-01-01 DE GRANDIS, Elisa; Stagnaro, M; Biancheri, R; Giannotta, M; Gobbi, G; Traverso, M; Veneselli, EDVIGE MARIA; Zara, F.
Leucomalacia periventricolare ed encefalopatia epilettica con punte-onda continue in sonno lento
2013-01-01 Carelli, V.; Mancardi, M. M.; Vari, M. S.; Carpaneto, M.; DE GRANDIS, Elisa; Mirabelli, M.; Brera, F.; Veneselli, E.; Baglietto, M. G.
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism
2014-01-01 S., Fornarino; M., Stagnaro; M., Rinelli; D., Tiziano; M. M., Mancardi; M., Traverso; Veneselli, EDVIGE MARIA; DE GRANDIS, Elisa
Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia.
2014-01-01 DE GRANDIS, Elisa; Mancardi, MARIA MARGHERITA; Carelli, V; Carpaneto, M; Morana, Giovanni; Prato, G; MIRABELLI BADENIER, MARISOL ELENA; Pinto, F; Veneselli, EDVIGE MARIA; Baglietto, MARIA GIUSEPPINA
Distinct neurological disorders with ATP1A3 mutations
2014-01-01 Heinzen, El; Arzimanoglou, A; Brashear, A; Clapcote, Sj; Gurrieri, F; Goldstein, Db; Jóhannesson, Sh; Mikati, Ma; Neville, B; Nicole, S; Ozelius, Lj; Poulsen, H; Schyns, T; Sweadner, Kj; van den Maagdenberg, A; Vilsen, B; ATP1A3 Working, Group; Arzimanoglou, A; Ashcroft, Fm; Brashear, A; Salem, W; Brockmann, K; Campistol, J; Capuano, A; Carrilho, I; Casaer, P; Clapcote, Sj; DE GRANDIS, Elisa; de Vries, B; Di Michele, M; Dion, C; Doummar, D; Einholm, Ap; Fons, C; Franchini, F; Friedrich, T; Freson, K; Gadsby, Dc; Giannotta, M; Goldstein, Db; Goubau, C; Granata, T; Gurrieri, F; Heinzen, El; Hirose, S; Hitomi, Y; Holm, R; Ikeda, K; Ishii, A; Jóhannesson, Sh; Khodakhah, K; King, Md; Kirshenbaum, Gs; Kockhans, A; Koenderink, Jb; Lesca, G; Lykke Hartmann, K; Maschke, U; Merida, Mr; Mikati, Ma; Müller, R; Neri, G; Neville, B; Nicole, S; Nielsen, Hn; Nissen, P; O'Brien, T; Ozelius, Lj; Panagiotakaki, E; Parowicz, M; Poncelin, D; Poulsen, H; Reyna, Sp; Roder, Jc; Rosewich, H; Sasaki, M; Schack, Vr; Schyns, P; Schyns, T; Stagnaro, M; Sweadner, Kj; Swoboda, Kj; Tiziano, Df; Toustrup Jensen, Ms; van den Maagdenberg, A; Vilamala, A; Vilsen, B; Wuchich, J. T.
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
2015-01-01 Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; de Vries, B; Goubau, C; Weckhuysen, S; Kemlink, D; Scheffer, I; Lesca, G; Rabilloud, M; Klich, A; Ramirez-Camacho, A; Ulate-Campos, A; Campistol, J; Giannotta, M; Moutard, Ml; Doummar, D; Hubsch-Bonneaud, C; Jaffer, F; Cross, H; Gurrieri, F; Tiziano, D; Nevsimalova, S; Nicole, S; Neville, B; van den Maagdenberg, Am; Mikati, M; Goldstein, Db; Vavassori, R; Arzimanoglou, A.
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
2015-01-01 Jaffer, Fatima; Avbersek, Andreja; Vavassori, Rosaria; Fons, Carmen; Campistol, Jaume; Stagnaro, Michela; DE GRANDIS, Elisa; Veneselli, EDVIGE MARIA; Rosewich, Hendrik; Gianotta, Melania; Zucca, Claudio; Ragona, Francesca; Granata, Tiziana; Nardocci, Nardo; Mikati, Mohamed; Helseth, Ashley R.; Boelman, Cyrus; Minassian, Berge A.; Johns, Sophia; Garry, Sarah I.; Scheffer, Ingrid E.; Gourfinkel An, Isabelle; Carrilho, Ines; Aylett, Sarah E.; Parton, Matthew; Hanna, Michael G.; Houlden, Henry; Neville, Brian; Kurian, Manju A.; Novy, Jan; Sander, Josemir W.; Lambiase, Pier D.; Behr, Elijah R.; Schyns, Tsveta; Arzimanoglou, Alexis; Cross, J. Helen; Kaski, Juan P.; Sisodiya, Sanjay M.
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?
2015-01-01 Mirabelli-Badenier, M; Morana, G; Bruno, C; Di Rocco, M; Striano, P; De Grandis, E; Veneselli, E; Rossi, A; Biancheri, R.
Congenital neuroblastoma with symptoms of epidural compression at birth
2016-01-01 Gigliotti, A. R.; De Ioris, M. A.; DE GRANDIS, Elisa; Podda, M.; Cellini, M.; Sorrentino, Stefania; De Bernardi, B; Paladini, D.; Gandolfo, C.
LOW-GRADE IVH AND LOW-GRADE CBH: WHICH INFLUENCE ON GRIFFITHS SCORE AT 2 YEARS OF AGE?
2017-01-01 Parodi, A.; Malova, M.; Uccella, S.; Boeri, L.; De Grandis, E.; Sannia, A.; Severino, M.; Morana, G.; Tortora, D.; Rossi, A.; , ; Ramenghi, L. A.
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients
2017-01-01 Pisciotta, Livia; Gherzi, Marcella; Stagnaro, Michela; Calevo, Maria Grazia; Giannotta, Melania; Vavassori, Maria Rosaria; Veneselli, EDVIGE MARIA; DE GRANDIS, Elisa
PANDAS e PANS: caratterizzazione clinica e biologica di una coorte di pazienti
2018-01-01 Uccella, S.; Gamucci, A.; Sciarretta, L.; Calevo, M. G.; D’Apruzzo, M.; Mancardi, M. M.; Cordani, R.; Veneselli, E.; De Grandis, E.
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases
2018-01-01 Pisciotta, L.; Uccella, S.; Giacomini, T.; Croci, C.; Cordani, R.; Prato, G.; Veneselli, E.; De Grandis, E.; Severino, M. S.; Mancardi, M. M.
PATTERN OF NEURODEVELOPMENTAL OUT- COME AT 2 YEARS OF CORRECTED AGE (CA) IN ISOLATED LOW-GRADE INTRA- VENTRICULAR HEMORRHAGES VS LOW- GRADE CEREBELLAR HEMORRHAGES
2018-01-01 Parodi, A.; Malova, M.; Uccella, S.; Boeri, L.; De Grandis, E.; Sannia, A.; Severino3, M.; Morana, G.; Tortora, D.; Rossi, A.; Veneselli, E.; Ramenghi, L. A.
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern
2018-01-01 Prato, G.; De Grandis, E.; Mancardi, M. M.; Croci, C.; Pisciotta, L.; Uccella, S.; Costanzo, C.; Severino, S.; Tortora, D.; Pavanello, M.; Veneselli, E.
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases
2018-01-01 Stagnaro, M.; Pisciotta, L.; Gherzi, M.; Di Rocco, M.; Gurrieri, F.; Parrini, E.; Prato, G.; Veneselli, E.; De Grandis, E.
A UHPLC–MS/MS method for the quantification of Δ9-tetrahydrocannabinol and cannabidiol in decoctions and in plasma samples for therapeutic monitoring of medical cannabis
2018-01-01 Barco, S; Fucile, C; Manfredini, Luca; De Grandis, E; Gherzi, M; Martelli, A; Tripodi, G; Mattioli, F; Cangemi, G
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
2018-01-01 Ghosh, S. G.; Becker, K.; Huang, H.; Dixon-Salazar, T.; Chai, G.; Salpietro, V.; Al-Gazali, L.; Waisfisz, Q.; Wang, H.; Vaux, K. K.; Stanley, V.; Manole, A.; Akpulat, U.; Weiss, M. M.; Efthymiou, S.; Hanna, M. G.; Minetti, C.; Striano, P.; Pisciotta, L.; De Grandis, E.; Altmuller, J.; Nurnberg, P.; Thiele, H.; Yis, U.; Okur, T. D.; Polat, A. I.; Amiri, N.; Doosti, M.; Karimani, E. G.; Toosi, M. B.; Haddad, G.; Karakaya, M.; Wirth, B.; van Hagen, J. M.; Wolf, N. I.; Maroofian, R.; Houlden, H.; Cirak, S.; Gleeson, J. G.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Response to rituximab in 3 children with opsoclonus-myoclonus syndrome resistant to conventional treatments. | 1-gen-2012 | Battaglia, T; DE GRANDIS, Elisa; MIRABELLI BADENIER, MARISOL ELENA; Boeri, L; Morcaldi, Guido; Barabino, P; Intra, C; Naselli, F; Pistoia, V; Veneselli, EDVIGE MARIA; Conte, M. | |
| De novo mutations in ATP1A3 cause alternating hemiplegia of childhood | 1-gen-2012 | Heinzen, El; Swoboda, Kj; Hitomi, Y; Gurrieri, F; De Vries, B; Tiziano, Fd; Fontaine, B; Walley, Nm; Heavin, S; Panagiotakaki, El; Fiori, S; Abiusi, E; Di Pietro, L; Sweney, Mt; Newcomb, Tm; Viollet, L; Huff, C; Jorde, Lb; Reyna, Sp; Murphy, K; Shianna, Kv; Gumbs, Ce; Little, L; Silver, K; Ptáček, Lj; Haan, J; Ferrari, Md; Bye, Am; Herkes, Gk; Whitelaw, Cm; Webb, D; Lynch, Bj; Uldall, P; King, Md; Scheffer, Ie; Neri, G; Arzimanoglou, A; Van Den Maagdenberg, A; Sisodiya, Sm; Mikati, Ma; Goldstein, Db; Koelewijn, S; Kamphorst, J; Geilenkirchen, M; Pelzer, N; Ferrari, M; Van Den Maagdenberg, A; Zucca, C; Franchini, F; Vavassori, R; Giannotta, M; Gobbi, G; Granata, T; Nardocci, N; De Grandis, E; Veneselli, E; Stagnaro, M; Vigevano, F; Oechsler, C; Nicole, S; Ninan, M; Neville, B; Ebinger, F; Fons, C; Campistol, J; Kemlink, D; Nevsimalova, S; Laan, L; Peetersscholte, C; Casaer, P; Casari, G; Sange, G; Spiel, G; Boneschi, Fm; Bassi, M; Schyns, T; Crawley, F; Poncelin, D. | |
| Lack of SLC2A1 (Glucose Transporter 1) Mutations in 30 Italian Patients With Alternating Hemiplegia of Childhood. | 1-gen-2013 | DE GRANDIS, Elisa; Stagnaro, M; Biancheri, R; Giannotta, M; Gobbi, G; Traverso, M; Veneselli, EDVIGE MARIA; Zara, F. | |
| Leucomalacia periventricolare ed encefalopatia epilettica con punte-onda continue in sonno lento | 1-gen-2013 | Carelli, V.; Mancardi, M. M.; Vari, M. S.; Carpaneto, M.; DE GRANDIS, Elisa; Mirabelli, M.; Brera, F.; Veneselli, E.; Baglietto, M. G. | |
| Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism | 1-gen-2014 | S., Fornarino; M., Stagnaro; M., Rinelli; D., Tiziano; M. M., Mancardi; M., Traverso; Veneselli, EDVIGE MARIA; DE GRANDIS, Elisa | |
| Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia. | 1-gen-2014 | DE GRANDIS, Elisa; Mancardi, MARIA MARGHERITA; Carelli, V; Carpaneto, M; Morana, Giovanni; Prato, G; MIRABELLI BADENIER, MARISOL ELENA; Pinto, F; Veneselli, EDVIGE MARIA; Baglietto, MARIA GIUSEPPINA | |
| Distinct neurological disorders with ATP1A3 mutations | 1-gen-2014 | Heinzen, El; Arzimanoglou, A; Brashear, A; Clapcote, Sj; Gurrieri, F; Goldstein, Db; Jóhannesson, Sh; Mikati, Ma; Neville, B; Nicole, S; Ozelius, Lj; Poulsen, H; Schyns, T; Sweadner, Kj; van den Maagdenberg, A; Vilsen, B; ATP1A3 Working, Group; Arzimanoglou, A; Ashcroft, Fm; Brashear, A; Salem, W; Brockmann, K; Campistol, J; Capuano, A; Carrilho, I; Casaer, P; Clapcote, Sj; DE GRANDIS, Elisa; de Vries, B; Di Michele, M; Dion, C; Doummar, D; Einholm, Ap; Fons, C; Franchini, F; Friedrich, T; Freson, K; Gadsby, Dc; Giannotta, M; Goldstein, Db; Goubau, C; Granata, T; Gurrieri, F; Heinzen, El; Hirose, S; Hitomi, Y; Holm, R; Ikeda, K; Ishii, A; Jóhannesson, Sh; Khodakhah, K; King, Md; Kirshenbaum, Gs; Kockhans, A; Koenderink, Jb; Lesca, G; Lykke Hartmann, K; Maschke, U; Merida, Mr; Mikati, Ma; Müller, R; Neri, G; Neville, B; Nicole, S; Nielsen, Hn; Nissen, P; O'Brien, T; Ozelius, Lj; Panagiotakaki, E; Parowicz, M; Poncelin, D; Poulsen, H; Reyna, Sp; Roder, Jc; Rosewich, H; Sasaki, M; Schack, Vr; Schyns, P; Schyns, T; Stagnaro, M; Sweadner, Kj; Swoboda, Kj; Tiziano, Df; Toustrup Jensen, Ms; van den Maagdenberg, A; Vilamala, A; Vilsen, B; Wuchich, J. T. | |
| Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients | 1-gen-2015 | Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; de Vries, B; Goubau, C; Weckhuysen, S; Kemlink, D; Scheffer, I; Lesca, G; Rabilloud, M; Klich, A; Ramirez-Camacho, A; Ulate-Campos, A; Campistol, J; Giannotta, M; Moutard, Ml; Doummar, D; Hubsch-Bonneaud, C; Jaffer, F; Cross, H; Gurrieri, F; Tiziano, D; Nevsimalova, S; Nicole, S; Neville, B; van den Maagdenberg, Am; Mikati, M; Goldstein, Db; Vavassori, R; Arzimanoglou, A. | |
| Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype | 1-gen-2015 | Jaffer, Fatima; Avbersek, Andreja; Vavassori, Rosaria; Fons, Carmen; Campistol, Jaume; Stagnaro, Michela; DE GRANDIS, Elisa; Veneselli, EDVIGE MARIA; Rosewich, Hendrik; Gianotta, Melania; Zucca, Claudio; Ragona, Francesca; Granata, Tiziana; Nardocci, Nardo; Mikati, Mohamed; Helseth, Ashley R.; Boelman, Cyrus; Minassian, Berge A.; Johns, Sophia; Garry, Sarah I.; Scheffer, Ingrid E.; Gourfinkel An, Isabelle; Carrilho, Ines; Aylett, Sarah E.; Parton, Matthew; Hanna, Michael G.; Houlden, Henry; Neville, Brian; Kurian, Manju A.; Novy, Jan; Sander, Josemir W.; Lambiase, Pier D.; Behr, Elijah R.; Schyns, Tsveta; Arzimanoglou, Alexis; Cross, J. Helen; Kaski, Juan P.; Sisodiya, Sanjay M. | |
| Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach? | 1-gen-2015 | Mirabelli-Badenier, M; Morana, G; Bruno, C; Di Rocco, M; Striano, P; De Grandis, E; Veneselli, E; Rossi, A; Biancheri, R. | |
| Congenital neuroblastoma with symptoms of epidural compression at birth | 1-gen-2016 | Gigliotti, A. R.; De Ioris, M. A.; DE GRANDIS, Elisa; Podda, M.; Cellini, M.; Sorrentino, Stefania; De Bernardi, B; Paladini, D.; Gandolfo, C. | |
| LOW-GRADE IVH AND LOW-GRADE CBH: WHICH INFLUENCE ON GRIFFITHS SCORE AT 2 YEARS OF AGE? | 1-gen-2017 | Parodi, A.; Malova, M.; Uccella, S.; Boeri, L.; De Grandis, E.; Sannia, A.; Severino, M.; Morana, G.; Tortora, D.; Rossi, A.; , ; Ramenghi, L. A. | |
| Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients | 1-gen-2017 | Pisciotta, Livia; Gherzi, Marcella; Stagnaro, Michela; Calevo, Maria Grazia; Giannotta, Melania; Vavassori, Maria Rosaria; Veneselli, EDVIGE MARIA; DE GRANDIS, Elisa | |
| PANDAS e PANS: caratterizzazione clinica e biologica di una coorte di pazienti | 1-gen-2018 | Uccella, S.; Gamucci, A.; Sciarretta, L.; Calevo, M. G.; D’Apruzzo, M.; Mancardi, M. M.; Cordani, R.; Veneselli, E.; De Grandis, E. | |
| Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases | 1-gen-2018 | Pisciotta, L.; Uccella, S.; Giacomini, T.; Croci, C.; Cordani, R.; Prato, G.; Veneselli, E.; De Grandis, E.; Severino, M. S.; Mancardi, M. M. | |
| PATTERN OF NEURODEVELOPMENTAL OUT- COME AT 2 YEARS OF CORRECTED AGE (CA) IN ISOLATED LOW-GRADE INTRA- VENTRICULAR HEMORRHAGES VS LOW- GRADE CEREBELLAR HEMORRHAGES | 1-gen-2018 | Parodi, A.; Malova, M.; Uccella, S.; Boeri, L.; De Grandis, E.; Sannia, A.; Severino3, M.; Morana, G.; Tortora, D.; Rossi, A.; Veneselli, E.; Ramenghi, L. A. | |
| Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern | 1-gen-2018 | Prato, G.; De Grandis, E.; Mancardi, M. M.; Croci, C.; Pisciotta, L.; Uccella, S.; Costanzo, C.; Severino, S.; Tortora, D.; Pavanello, M.; Veneselli, E. | |
| ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases | 1-gen-2018 | Stagnaro, M.; Pisciotta, L.; Gherzi, M.; Di Rocco, M.; Gurrieri, F.; Parrini, E.; Prato, G.; Veneselli, E.; De Grandis, E. | |
| A UHPLC–MS/MS method for the quantification of Δ9-tetrahydrocannabinol and cannabidiol in decoctions and in plasma samples for therapeutic monitoring of medical cannabis | 1-gen-2018 | Barco, S; Fucile, C; Manfredini, Luca; De Grandis, E; Gherzi, M; Martelli, A; Tripodi, G; Mattioli, F; Cangemi, G | |
| Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome | 1-gen-2018 | Ghosh, S. G.; Becker, K.; Huang, H.; Dixon-Salazar, T.; Chai, G.; Salpietro, V.; Al-Gazali, L.; Waisfisz, Q.; Wang, H.; Vaux, K. K.; Stanley, V.; Manole, A.; Akpulat, U.; Weiss, M. M.; Efthymiou, S.; Hanna, M. G.; Minetti, C.; Striano, P.; Pisciotta, L.; De Grandis, E.; Altmuller, J.; Nurnberg, P.; Thiele, H.; Yis, U.; Okur, T. D.; Polat, A. I.; Amiri, N.; Doosti, M.; Karimani, E. G.; Toosi, M. B.; Haddad, G.; Karakaya, M.; Wirth, B.; van Hagen, J. M.; Wolf, N. I.; Maroofian, R.; Houlden, H.; Cirak, S.; Gleeson, J. G. |
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