DE GRANDIS, ELISA

DE GRANDIS, ELISA  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftamologia, Genetica e Scienze Materno-Infantili  

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A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam. 1-gen-2007 DORIA LAMBA, L; Giribaldi, G; DE NEGRI, E; Follo, R; DE GRANDIS, Elisa; Pintaudi, M; Veneselli, EDVIGE MARIA
[Acute urinary retention in a child with acute disseminatedencephalomyelitis] 1-gen-2006 Doria Lamba, L; DE GRANDIS, Elisa; De Negri, E; Montaldi, L; Grosso, P; Marazzi, MARIA GRAZIA; Rossi, A; Tuo, P.
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 1-gen-2022 Cordani, R.; Pisciotta, L.; Mancardi, M. M.; Stagnaro, M.; Prato, G.; Giacomini, T.; Morana, G.; Walsh, P.; Ghia, T.; Nobili, L.; De Grandis, E.
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration 1-gen-2021 Uchitel, Julie; Wallace, Keri; Tran, Linh; Abrahamsen, Tavis; Hunanyan, Arsen; Prange, Lyndsey; Jasien, Joan; Caligiuri, Laura; Pratt, Milton; Rikard, Blaire; Fons, Carmen; De Grandis, Elisa; Vezyroglou, Aikaterini; Heinzen, Erin L; Goldstein, David B; Vavassori, Rosaria; Papadopoulou, Maria T; Cocco, Isabella; Moré, Rebecca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Mikati, Mohamad A
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 1-gen-2021 Cordani, R.; Stagnaro, M.; Pisciotta, L.; Tiziano, F. D.; Calevo, M. G.; Nobili, L.; De Grandis, E.; Bassi, M. T.; Claudio, Z.; Edvige, V.; De Grandis, E.; Michela, S.; Filippo, F.; Vavassori, M. R.; Melania, G.; Giuseppe, G.; Tiziana, G.; Nardo, N.; Francesca, R.; Emanuela, A.; Agnese, N.; Fiorella, G.; Giovanni, N.; Tiziano, F. D.; Federico, V.; Alessandro, C.; Stefano, S.
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
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.
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.
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study 1-gen-2020 Balestrini, Simona; Mikati, Mohamad A; Garcia-Roves, Reyes Alvarez; Carboni, Michael; Hunanyan, Arsen S; Kherallah, Bassil; Mclean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samoes, Raquel; Brankovic, Vesna; Padiath, Quasar S; Potic, Ana; Pilch, Jacek; Vezyroglou, Katharina; Bye, Ann M E; Davis, Andrew M; Ryan, Monique M; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Ines; Zucca, Claudio; Novy, Jan; Dzieżyc, Karolina; Parowicz, Marek; Mazurkiewicz-Bełdzińska, Maria; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S; Pitt, Geoffrey S; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J Helen; Vavassori, Rosaria; Kaski, Juan P; Sisodiya, Sanjay M
CASK related disorder: Epilepsy and developmental outcome 1-gen-2021 Giacomini, T.; Nuovo, S.; Zanni, G.; Mancardi, M. M.; Cusmai, R.; Pepi, C.; Bertini, E.; Valente, E. M.; Battini, R.; Ferrari, A.; Romaniello, R.; Zucca, C.; Borgatti, R.; Uccella, S.; Severino, M.; Striano, P.; Pistorio, A.; Prato, G.; De Grandis, E.; Nobili, L.; Pisciotta, L.
CASK related disorder: Epilepsy and developmental outcome 1-gen-2021 Giacomini, T.; Nuovo, S.; Zanni, G.; Mancardi, M. M.; Cusmai, R.; Pepi, C.; Bertini, E.; Valente, E. M.; Battini, R.; Ferrari, A.; Romaniello, R.; Zucca, C.; Borgatti, R.; Uccella, S.; Severino, M.; Striano, P.; Pistorio, A.; Prato, G.; De Grandis, E.; Nobili, L.; Pisciotta, L.
CEREBRAL FOLATE DEFICIENCY AND DISEASES OF THE CENTRAL NERVOUS SYSTEM IN CHILDHOOD 1-gen-2010 Perez Duenas, B; Ormazabal, A; Toma, C; Torrico, B; Cormand, B; Serrano, M; Sierra, C; DE GRANDIS, Elisa; Pineda, M; Campistol, J; Garcia Cazorla, A; Artuch, R.
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. 1-gen-2011 Pérez Dueñas, B; Ormazábal, A; Toma, C; Torrico, B; Cormand, B; Serrano, M; Sierra, C; DE GRANDIS, Elisa; Marfa, Mp; García Cazorla, A; Campistol, J; Pascual, Jm; Artuch, R.
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders. 1-gen-2010 DE GRANDIS, Elisa; Serrano, M; Pérez Dueñas, B; Ormazábal, A; Montero, R; Veneselli, EDVIGE MARIA; Pineda, M; González, V; Sanmartí, F; Fons, C; Sans, A; Cormand, B; Puelles, L; Alonso, A; Campistol, J; Artuch, R; García Cazorla, A.
Childhood thalidomide neuropathy: a clinical and neurophysiologic study. 1-gen-2008 Priolo, T; DORIA LAMBA, L; Giribaldi, G; DE NEGRI, E; Grosso, P; DE GRANDIS, Elisa; Veneselli, EDVIGE MARIA; Buoncompagni, A; Viola, S; Alpigiani, Mg; Gandullia, P; Calevo, Mg
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.
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms 1-gen-2021 Cerminara, Maria; Servetti, Martina; Squillari2, Margherita; Pisciotta, Livia; Spirito, Giovanni; Teresa Divizia, Maria; Lerone, Margherita; DE GRANDIS, Elisa; Boeri, Silvia; Nobili, Lino; Vozzi, Diego; Sanges, Remo; Zara, Federico; Gustincich, Stefano; Puliti, Aldamaria
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.
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.
Early-onset neurodegeneration with brain iron accumulationdue to PANK2 mutation 1-gen-2012 Rossi, DANIELA PAOLA; DE GRANDIS, Elisa; Barzaghi, C; Mascaretti, Monica; Garavaglia, B; Zanotto, Elisabetta; Morana, Giovanni; Biancheri, Roberta