PISCIOTTA, LIVIA
PISCIOTTA, LIVIA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review
2022-01-01 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: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients
2021-01-01 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
2017-01-01 Pisciotta, Livia; Gherzi, Marcella; Stagnaro, Michela; Calevo, Maria Grazia; Giannotta, Melania; Vavassori, Maria Rosaria; Veneselli, EDVIGE MARIA; DE GRANDIS, Elisa
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia
2022-01-01 Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia
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.
Autism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches
2021-10-25 Pisciotta, Livia
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
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.
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.
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.
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
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
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.
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.
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.
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.
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs
2022-01-01 Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; 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.
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review
2021-01-01 Uccella, Sara; Pisciotta, Livia; Severino, Mariasavina; Bertini, Enrico; Giacomini, Thea; Zanni, Ginevra; Prato, Giulia; DE GRANDIS, Elisa; Nobili, Lino; Margherita Mancardi, Maria
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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: 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 | |
| An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia | 1-gen-2022 | Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia | |
| 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. | |
| Autism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches | 25-ott-2021 | Pisciotta, Livia | |
| 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 | |
| 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. | |
| 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 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. | |
| 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 | |
| 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 | |
| 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. | |
| 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. | |
| 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. | |
| 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. | |
| Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs | 1-gen-2022 | Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Fontana, Marco; Bagliani, Chiara; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Teresa Divizia, Maria; Zara, Federico; 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. | |
| Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review | 1-gen-2021 | Uccella, Sara; Pisciotta, Livia; Severino, Mariasavina; Bertini, Enrico; Giacomini, Thea; Zanni, Ginevra; Prato, Giulia; DE GRANDIS, Elisa; Nobili, Lino; Margherita Mancardi, Maria | |
| 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 |