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37 results for Battaglia,+Domenica

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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
Author / Creator:Zollino, Marcella ; Orteschi, Daniela ; Murdolo, Marina ; Lattante, Serena ; Battaglia, Domenica ; Stefanini, Chiara ; Mercuri, Eugenio ; Chiurazzi, Pietro ; Neri, Giovanni ; Marangi, Giuseppe
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-06, Vol.44 (6), p.636-638
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Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
Author / Creator:Battaglia, Domenica I. ; Gambardella, Maria Luigia ; Veltri, Stefania ; Contaldo, Ilaria ; Chillemi, Giovanni ; Veredice, Chiara ; Quintiliani, Michela ; Leoni, Chiara ; Onesimo, Roberta ; Verdolotti, Tommaso ; Radio, Francesca Clementina ; Martinelli, Diego ; Trivisano, Marina ; Specchio, Nicola ; Dravet, Charlotte ; Tartaglia, Marco ; Zampino, Giuseppe
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-08, Vol.12 (9), p.1316
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Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case–control study by quantitative magnetic resonance imag...
Author / Creator:Calandrelli Rosalinda ; Pilato Fabio ; Panfili Marco ; Battaglia Domenica ; Gambardella, Maria Luigia ; Colosimo Cesare
Publisher:Heidelberg: Springer Nature B.V
Journal title:Neuroradiology, 2022-01, Vol.64 (1), p.185-195
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Metalloproteinases in Cardiac Surgery: A Systematic Review
Author / Creator:Serraino, Giuseppe Filiberto ; Jiritano, Federica ; Costa, Davide ; Ielapi, Nicola ; Battaglia, Domenica ; Bracale, Umberto Marcello ; Mastroroberto, Pasquale ; Andreucci, Michele ; Serra, Raffaele
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2023-01, Vol.13 (1), p.113
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Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Author / Creator:Fetta, Anna ; Toni, Francesco ; Pettenuzzo, Ilaria ; Ricci, Emilia ; Rocca, Alessandro ; Gambi, Caterina ; Soliani, Luca ; Di Pisa, Veronica ; Martini, Silvia ; Sperti, Giacomo ; Cagnazzo, Valeria ; Accorsi, Patrizia ; Bartolini, Emanuele ; Battaglia, Domenica ; Bernardo, Pia ; Canevini, Maria Paola ; Ferrari, Anna Rita ; Giordano, Lucio ; Locatelli, Chiara ; Mancardi, Margherita ; Orsini, Alessandro ; Pippucci, Tommaso ; Pruna, Dario ; Rosati, Anna ; Suppiej, Agnese ; Tagliani, Sara ; Vaisfeld, Alessandro ; Vignoli, Aglaia ; Izumi, Kosuke ; Krantz, Ian ; Cordelli, Duccio Maria
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-03, Vol.19 (1), p.107-15, Article 107
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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
Author / Creator:Cafiero, Concetta ; Marangi, Giuseppe ; Orteschi, Daniela ; Ali, Marwan ; Asaro, Alessia ; Ponzi, Emanuela ; Moncada, Alice ; Ricciardi, Stefania ; Murdolo, Marina ; Mancano, Giorgia ; Contaldo, Ilaria ; Leuzzi, Vincenzo ; Battaglia, Domenica ; Mercuri, Eugenio ; Slavotinek, Anne M ; Zollino, Marcella
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1499-1504
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Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
Author / Creator:Sprovieri, Teresa ; Ungaro, Carmine ; Sivo, Serena ; Quintiliani, Michela ; Contaldo, Ilaria ; Veredice, Chiara ; Citrigno, Luigi ; Muglia, Maria ; Cavalcanti, Francesca ; Cavallaro, Sebastiano ; Mercuri, Eugenio ; Battaglia, Domenica
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2019-03, Vol.20 (1), p.40-5, Article 40
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Fatal Status Epilepticus in Dravet Syndrome
Author / Creator:De Liso, Paola ; Pironi, Virginia ; Mastrangelo, Massimo ; Battaglia, Domenica ; Craiu, Dana ; Trivisano, Marina ; Specchio, Nicola ; Nabbout, Rima ; Vigevano, Federico
Publisher:Basel: MDPI AG
Journal title:Brain sciences, 2020-11, Vol.10 (11), p.889
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Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Drav...
Author / Creator:De Liso, Paola ; Pironi, Virginia ; Mastrangelo, Massimo ; Battaglia, Domenica ; Craiu, Dana ; Trivisano, Marina ; Specchio, Nicola ; Nabbout, Rima ; Vigevano, Federico
Publisher:Basel: MDPI AG
Journal title:Brain sciences, 2021-06, Vol.11 (6), p.811
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Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity a...
Author / Creator:Lin, Yu-Wen ; Li, Anlong ; Grasso, Valeria ; Battaglia, Domenica ; Crinò, Antonino ; Colombo, Carlo ; Barbetti, Fabrizio ; Nichols, Colin G
Publisher:United States: Public Library of Science (PLoS)
Journal title:PloS one, 2013, Vol.8 (5), p.e63758
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Postoperative Epileptic Seizures in Children
Author / Creator:Massimi, Luca ; Frassanito, Paolo ; Bianchi, Federico ; Fiorillo, Luigi ; Battaglia, Domenica Immacolata ; Tamburrini, Gianpiero
Publisher:Switzerland: MDPI AG
Journal title:Children (Basel), 2022-09, Vol.9 (10), p.1465
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Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology
Author / Creator:Musto, Elisa ; Gambardella, Maria Luigia ; Perulli, Marco ; Quintiliani, Michela ; Veredice, Chiara ; Verdolotti, Tommaso ; Berté, Giovanna ; Leoni, Chiara ; Onesimo, Roberta ; Pulitanò, Silvia Maria ; Tartaglia, Marco ; Zampino, Giuseppe ; Contaldo, Ilaria ; Battaglia, Domenica Immacolata
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2024-02, Vol.9 (1), p.258-267
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KETASER01 protocol: What went right and what went wrong
Author / Creator:Rosati, Anna ; L’Erario, Manuela ; Bianchi, Roberto ; Olivotto, Sara ; Battaglia, Domenica Immacolata ; Darra, Francesca ; Biban, Paolo ; Biggeri, Annibale ; Catelan, Dolores ; Danieli, Giacomo ; Mondardini, Maria Cristina ; Cordelli, Duccio Maria ; Amigoni, Angela ; Cesaroni, Elisabetta ; Conio, Alessandra ; Costa, Paola ; Lombardini, Martina ; Meleleo, Rosanna ; Pugi, Alessandra ; Tornaboni, Elena Eve ; Santarone, Marta Elena ; Vittorini, Roberta ; Sartori, Stefano ; Marini, Carla ; Vigevano, Federico ; Mastrangelo, Massimo ; Pulitanò, Silvia Maria ; Izzo, Francesca ; Fusco, Lucia
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2022-09, Vol.7 (3), p.532-540
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Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial
Author / Creator:Lagae, Lieven ; Sullivan, Joseph ; Knupp, Kelly ; Laux, Linda ; Polster, Tilman ; Nikanorova, Marina ; Devinsky, Orrin ; Cross, J Helen ; Guerrini, Renzo ; Talwar, Dinesh ; Miller, Ian ; Farfel, Gail ; Galer, Bradley S ; Gammaitoni, Arnold ; Mistry, Arun ; Morrison, Glenn ; Lock, Michael ; Agarwal, Anupam ; Lai, Wyman W ; Ceulemans, Berten
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2019-12, Vol.394 (10216), p.2243-2254
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Postoperative Epileptic Seizures in Children: Is the Brain Incision a Risk Factor?
Author / Creator:Massimi, Luca ; Battaglia, Domenica ; Bianchi, Federico ; Peraio, Simone ; Peppucci, Elisabetta ; Di Rocco, Concezio
Publisher:United States: Oxford University Press
Journal title:Neurosurgery, 2018-04, Vol.82 (4), p.465-472
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A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset
Publisher:Milano: Springer Nature B.V
Journal title:Neurological sciences, 2021-11, Vol.42 (11), p.4759-4765
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Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in IMFSD8/I
Author / Creator:Pasquetti, Domizia ; Marangi, Giuseppe ; Orteschi, Daniela ; Carapelle, Marina ; L’Erario, Federica Francesca ; Venditti, Romina ; Maietta, Sabrina ; Battaglia, Domenica Immacolata ; Contaldo, Ilaria ; Veredice, Chiara ; Zollino, Marcella
Publisher:MDPI AG
Journal title:Genes, 2023-01, Vol.14 (2)
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Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients
Author / Creator:Zollino, Marcella ; Marangi, Giuseppe ; Ponzi, Emanuela ; Orteschi, Daniela ; Ricciardi, Stefania ; Lattante, Serena ; Murdolo, Marina ; Battaglia, Domenica ; Contaldo, Ilaria ; Mercuri, Eugenio ; Stefanini, Maria Chiara ; Caumes, Roseline ; Edery, Patrick ; Rossi, Massimiliano ; Piccione, Maria ; Corsello, Giovanni ; Della Monica, Matteo ; Scarano, Francesca ; Priolo, Manuela ; Gentile, Mattia ; Zampino, Giuseppe ; Vijzelaar, Raymon ; Abdulrahman, Omar ; Rauch, Anita ; Oneda, Beatrice ; Deardorff, Matthew A ; Saitta, Sulagna C ; Falk, Marni J ; Dubbs, Holly ; Zackai, Elaine
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-12, Vol.52 (12), p.804-814
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Visual Function in Children with GNAO1-Related Encephalopathy
Author / Creator:Gambardella, Maria Luigia ; Pede, Elisa ; Orazi, Lorenzo ; Leone, Simona ; Quintiliani, Michela ; Amorelli, Giulia Maria ; Petrianni, Maria ; Galanti, Marta ; Amore, Filippo ; Musto, Elisa ; Perulli, Marco ; Contaldo, Ilaria ; Veredice, Chiara ; Mercuri, Eugenio Maria ; Battaglia, Domenica Immacolata ; Ricci, Daniela
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-02, Vol.14 (3), p.544
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Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
Author / Creator:Pasquetti, Domizia ; Marangi, Giuseppe ; Orteschi, Daniela ; Carapelle, Marina ; L’Erario, Federica Francesca ; Venditti, Romina ; Maietta, Sabrina ; Battaglia, Domenica Immacolata ; Contaldo, Ilaria ; Veredice, Chiara ; Zollino, Marcella
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-01, Vol.14 (2), p.245
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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

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Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

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Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case–control study by quantitative magnetic resonance imag...

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Metalloproteinases in Cardiac Surgery: A Systematic Review

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Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children

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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

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Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

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Fatal Status Epilepticus in Dravet Syndrome

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Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Drav...

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Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity a...

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Postoperative Epileptic Seizures in Children

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Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology

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KETASER01 protocol: What went right and what went wrong

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Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial

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Postoperative Epileptic Seizures in Children: Is the Brain Incision a Risk Factor?

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A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

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Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in IMFSD8/I

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Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

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Visual Function in Children with GNAO1-Related Encephalopathy

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Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8

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