Sfoglia per Autore
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
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.
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.
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations
2018-01-01 Accogli, Andrea; Scala, Marcello; Calcagno, Annalisa; Napoli, Flavia; Di Iorgi, Natascia; Arrigo, Serena; Mancardi, Maria Margherita; Prato, Giulia; Pisciotta, Livia; Nagel, Mato; Severino, Mariasavina; Capra, Valeria
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review
2019-01-01 Giacomini, T.; Pisciotta, L.; Prato, G.; Meola, I.; Zara, F.; Fiorillo, C.; Baratto, S.; Severino, M.; De Grandis, E.; Mancardi, M. M.
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene
2019-01-01 Giacomini, T.; Vari, M. S.; Janis, S.; Prato, G.; Pisciotta, L.; Rocchi, A.; Michelucci, A.; Di Rocco, M.; Gandullia, P.; Mattioli, G.; Sacco, O.; Morana, G.; Mancardi, M. M.
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome
2019-01-01 Lenci, G.; Calevo, M. G.; Gaggero, R.; Prato, G.; Pisciotta, L.; De Grandis, E.; Mancardi, M. M.; Baglietto, M. G.; Vigano', M.; Veneselli, E.
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability
2019-01-01 Rosti, Giulia; Tassano, Elisa; Bossi, Simone; Divizia, Maria Teresa; Ronchetto, Patrizia; Servetti, Martina; Lerone, Margherita; Pisciotta, Livia; Mancardi, Maria Margherita; Veneselli, Edvige; Puliti, Aldamaria.
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study
2020-01-01 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
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant
2020-01-01 Giacomini, Thea; Gamucci, Alessandra; Pisciotta, Livia; Nesti, Claudia; Fiorillo, Chiara; Doccini, Stefano; Morana, Giovanni; Nobili, Lino; Santorelli, Filippo M; Mancardi, Maria Margherita; De Grandis, Elisa.
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
2020-01-01 Accogli, A.; Severino, M.; Riva, A.; Madia, F.; Balagura, G.; Iacomino, M.; Carlini, B.; Baldassari, S.; Giacomini, T.; Croci, C.; Pisciotta, L.; Messana, T.; Boni, A.; Russo, A.; Bilo, L.; Tonziello, R.; Coppola, A.; Filla, A.; Mecarelli, O.; Casalone, R.; Pisani, F.; Falsaperla, R.; Marino, S.; Parisi, P.; Ferretti, A.; Elia, M.; Luchetti, A.; Milani, D.; Vanadia, F.; Silvestri, L.; Rebessi, E.; Parente, E.; Vatti, G.; Mancardi, M. M.; Nobili, L.; Capra, V.; Salpietro Damiano, V.; Striano, P.; Zara, F.
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review
2020-01-01 Uccella, Sara; Pisciotta, Livia; Severino, Mariasavina; Bertini, Enrico; Giacomini, Thea; Zanni, Ginevra; Prato, Giulia; DE GRANDIS, Elisa; Nobili, Lino; Margherita Mancardi, Maria
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern
2020-01-01 Prato, G.; De Grandis, E.; Mancardi, M. M.; Cordani, R.; Giacomini, T.; Pisciotta, L.; Uccella, S.; Severino, M.; Tortora, D.; Pavanello, M.; Bertamino, M.; Verrina, E.; Caridi, G.; Di Rocco, M.; Nobili, L.
White matter and cerebellar involvement in alternating hemiplegia of childhood
2020-01-01 Severino, M.; Pisciotta, L.; Tortora, D.; Toselli, B.; Stagnaro, M.; Cordani, R.; Morana, G.; Zicca, A.; Kotzeva, S.; Zanaboni, C.; Montobbio, G.; Rossi, A.; De Grandis, E.; Bassi, M. T.; Zucca, C.; Veneselli, E.; Franchini, F.; Vavassori, M. R.; Giannotta, M.; Gobbi, G.; Granata, T.; Nardocci, N.; Ragona, F.; Gurrieri, F.; Neri, G.; Tiziano, F. D.; Vigevano, F.; Capuano, A.; Sartori, S.
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms
2021-01-01 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
CASK related disorder: Epilepsy and developmental outcome
2021-01-01 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.
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances
2021-01-01 Cerminara, M.; Spirito, G.; Pisciotta, L.; Squillario, M.; Servetti, M.; Divizia, M. T.; Lerone, M.; Berloco, B.; Boeri, S.; Nobili, L.; Vozzi, D.; Sanges, R.; Gustincich, S.; Puliti, A.
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs).
2021-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Nobili, Lino; Boeri, Silvia; Cerminara, Maria; Lerone, Margherita; Teresa Divizia, Maria; Ronchetto, Patrizia; Puliti, Aldamaria
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs.
2021-01-01 Servetti, M.; Pisciotta, L.; Tassano, E.; Cerminara, M.; Nobili, L.; Boeri, S.; Rosti, G.; Lerone, M.; Divizia, M. T.; Zara, F.; Ronchetto, P.; Puliti, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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. | |
| 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. | |
| CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations | 1-gen-2018 | Accogli, Andrea; Scala, Marcello; Calcagno, Annalisa; Napoli, Flavia; Di Iorgi, Natascia; Arrigo, Serena; Mancardi, Maria Margherita; Prato, Giulia; Pisciotta, Livia; Nagel, Mato; Severino, Mariasavina; Capra, Valeria | |
| Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review | 1-gen-2019 | Giacomini, T.; Pisciotta, L.; Prato, G.; Meola, I.; Zara, F.; Fiorillo, C.; Baratto, S.; Severino, M.; De Grandis, E.; Mancardi, M. M. | |
| Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene | 1-gen-2019 | Giacomini, T.; Vari, M. S.; Janis, S.; Prato, G.; Pisciotta, L.; Rocchi, A.; Michelucci, A.; Di Rocco, M.; Gandullia, P.; Mattioli, G.; Sacco, O.; Morana, G.; Mancardi, M. M. | |
| Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome | 1-gen-2019 | Lenci, G.; Calevo, M. G.; Gaggero, R.; Prato, G.; Pisciotta, L.; De Grandis, E.; Mancardi, M. M.; Baglietto, M. G.; Vigano', M.; Veneselli, E. | |
| Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability | 1-gen-2019 | Rosti, Giulia; Tassano, Elisa; Bossi, Simone; Divizia, Maria Teresa; Ronchetto, Patrizia; Servetti, Martina; Lerone, Margherita; Pisciotta, Livia; Mancardi, Maria Margherita; Veneselli, Edvige; Puliti, Aldamaria. | |
| 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 | |
| Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant | 1-gen-2020 | Giacomini, Thea; Gamucci, Alessandra; Pisciotta, Livia; Nesti, Claudia; Fiorillo, Chiara; Doccini, Stefano; Morana, Giovanni; Nobili, Lino; Santorelli, Filippo M; Mancardi, Maria Margherita; De Grandis, Elisa. | |
| Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations | 1-gen-2020 | Accogli, A.; Severino, M.; Riva, A.; Madia, F.; Balagura, G.; Iacomino, M.; Carlini, B.; Baldassari, S.; Giacomini, T.; Croci, C.; Pisciotta, L.; Messana, T.; Boni, A.; Russo, A.; Bilo, L.; Tonziello, R.; Coppola, A.; Filla, A.; Mecarelli, O.; Casalone, R.; Pisani, F.; Falsaperla, R.; Marino, S.; Parisi, P.; Ferretti, A.; Elia, M.; Luchetti, A.; Milani, D.; Vanadia, F.; Silvestri, L.; Rebessi, E.; Parente, E.; Vatti, G.; Mancardi, M. M.; Nobili, L.; Capra, V.; Salpietro Damiano, V.; Striano, P.; Zara, F. | |
| Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review | 1-gen-2020 | Uccella, Sara; Pisciotta, Livia; Severino, Mariasavina; Bertini, Enrico; Giacomini, Thea; Zanni, Ginevra; Prato, Giulia; DE GRANDIS, Elisa; Nobili, Lino; Margherita Mancardi, Maria | |
| Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern | 1-gen-2020 | Prato, G.; De Grandis, E.; Mancardi, M. M.; Cordani, R.; Giacomini, T.; Pisciotta, L.; Uccella, S.; Severino, M.; Tortora, D.; Pavanello, M.; Bertamino, M.; Verrina, E.; Caridi, G.; Di Rocco, M.; Nobili, L. | |
| White matter and cerebellar involvement in alternating hemiplegia of childhood | 1-gen-2020 | Severino, M.; Pisciotta, L.; Tortora, D.; Toselli, B.; Stagnaro, M.; Cordani, R.; Morana, G.; Zicca, A.; Kotzeva, S.; Zanaboni, C.; Montobbio, G.; Rossi, A.; De Grandis, E.; Bassi, M. T.; Zucca, C.; Veneselli, E.; Franchini, F.; Vavassori, M. R.; Giannotta, M.; Gobbi, G.; Granata, T.; Nardocci, N.; Ragona, F.; Gurrieri, F.; Neri, G.; Tiziano, F. D.; Vigevano, F.; Capuano, A.; Sartori, S. | |
| 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 | |
| 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. | |
| Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances | 1-gen-2021 | Cerminara, M.; Spirito, G.; Pisciotta, L.; Squillario, M.; Servetti, M.; Divizia, M. T.; Lerone, M.; Berloco, B.; Boeri, S.; Nobili, L.; Vozzi, D.; Sanges, R.; Gustincich, S.; Puliti, A. | |
| Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). | 1-gen-2021 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Nobili, Lino; Boeri, Silvia; Cerminara, Maria; Lerone, Margherita; Teresa Divizia, Maria; Ronchetto, Patrizia; Puliti, Aldamaria | |
| Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. | 1-gen-2021 | Servetti, M.; Pisciotta, L.; Tassano, E.; Cerminara, M.; Nobili, L.; Boeri, S.; Rosti, G.; Lerone, M.; Divizia, M. T.; Zara, F.; Ronchetto, P.; Puliti, A. |
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