Search the collection

52 results for Veggiotti,+Pierangelo

Sort by:

Sort by

Limit results to:

20 per page

52 results for Veggiotti,+Pierangelo

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 21
ArticlesPeer ReviewedFull Text
Long-term effects of a ketogenic diet on body composition and bone mineralization in GLUT-1 deficiency syndrome: A case series
Author / Creator:Bertoli, Simona, M.D ; Trentani, Claudia, R.D ; Ferraris, Cinzia, R.D ; De Giorgis, Valentina, M.D ; Veggiotti, Pierangelo, M.D ; Tagliabue, Anna, M.D
Publisher:New York, NY: Elsevier Inc
Journal title:Nutrition (Burbank, Los Angeles County, Calif.), 2014-06, Vol.30 (6), p.726-728
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 22
ArticlesPeer ReviewedFull Text
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders
Author / Creator:Varesio, Costanza ; De Giorgis, Valentina ; Veggiotti, Pierangelo ; Nardocci, Nardo ; Granata, Tiziana ; Ragona, Francesca ; Pasca, Ludovica ; Mensi, Martina Maria ; Borgatti, Renato ; Olivotto, Sara ; Previtali, Roberto ; Riva, Antonella ; Mancardi, Maria Margherita ; Striano, Pasquale ; Cavallin, Mara ; Guerrini, Renzo ; Operto, Francesca Felicia ; Pizzolato, Alice ; Di Maulo, Ruggero ; Martino, Fabiola ; Lodi, Andrea ; Marini, Carla
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.63-63, Article 63
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 23
ArticlesPeer ReviewedFull Text
Eating disorder risks and psychopathological distress in Italian high school adolescents
Author / Creator:Calcaterra, Valeria ; Magenes, Vittoria Carlotta ; Basso, Martina ; Conte, Veronica ; Maggioni, Giulia ; Russo, Susanna ; De Silvestri, Annalisa ; Fabiano, Valentina ; Marrocco, Elisabetta Agnese ; Veggiotti, Pierangelo ; Zuccotti, Gianvincenzo
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2024-08, Vol.50 (1), p.144-14, Article 144
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 24
ArticlesPeer ReviewedFull Text
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): study protocol for a multicentric longitudinal project
Author / Creator:Provenzi, Livio ; Grumi, Serena ; Giorda, Roberto ; Biasucci, Giacomo ; Bonini, Renza ; Cavallini, Anna ; Decembrino, Lidia ; Drera, Bruno ; Falcone, Rossana ; Fazzi, Elisa ; Gardella, Barbara ; Giacchero, Roberta ; Nacinovich, Renata ; Pisoni, Camilla ; Prefumo, Federico ; Scelsa, Barbara ; Spartà, Maria Valentina ; Veggiotti, Pierangelo ; Orcesi, Simona ; Borgatti, Renato ; Accorsi, Patrizia ; Bucci, Rossana ; Cavalleri, Elisa ; Malerba, Laura ; Martelli, Paola ; Motta, Mario ; Zatti, Sonia ; Bertazzoli, Emanuela ; Centinaio, Giovanna ; Longo, Maria Roberta ; Pietra, Benedetta Chiara ; Sabatini, Caterina ; Chiara, Alberto ; Campo, Giuliana Del ; Magnani, Luisa ; Pantaleo, Dario ; Spinillo, Arsenio ; Zecca, Marco ; Bensi, Giulia ; Grossi, Elena ; Pavesi, Cristiana ; Russo, Daniela ; Kullmann, Gaia
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2020-12, Vol.10 (12), p.e044585
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 25
ArticlesPeer ReviewedFull Text
Cognitive, Behavioral and Socioemotional Development in a Cohort of Preterm Infants at School Age: A Cross-Sectional Study
Author / Creator:Ionio, Chiara ; Lista, Gianluca ; Veggiotti, Pierangelo ; Colombo, Caterina ; Ciuffo, Giulia ; Daniele, Irene ; Landoni, Marta ; Scelsa, Barbara ; Alfei, Enrico ; Bova, Stefania
Publisher:Switzerland: MDPI AG
Journal title:Pediatric reports, 2022-03, Vol.14 (1), p.115-126
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 26
ArticlesPeer ReviewedFull Text
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature
Author / Creator:Cutillo, Gianni ; Masnada, Silvia ; Lesca, Gaetan ; Ville, Dorothée ; Accorsi, Patrizia ; Giordano, Lucio ; Pichiecchio, Anna ; Valente, Marialuisa ; Borrelli, Paola ; Ferraro, Ottavia Eleonora ; Veggiotti, Pierangelo
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2024-02, Vol.9 (1), p.106-121
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 27
ArticlesPeer ReviewedFull Text
A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy
Author / Creator:Riva, Antonella ; Roberti, Roberta ; D'Onofrio, Gianluca ; Vari, Maria Stella ; Amadori, Elisabetta ; De Giorgis, Valentina ; Cerminara, Caterina ; Specchio, Nicola ; Pietrafusa, Nicola ; Tombini, Mario ; Assenza, Giovanni ; Cappanera, Silvia ; Marini, Carla ; Rasmini, Paolo ; Veggiotti, Pierangelo ; Zara, Federico ; Russo, Emilio ; Striano, Pasquale
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2023-09, Vol.8 (3), p.1142-1150
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 28
ArticlesPeer ReviewedFull Text
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants
Author / Creator:Berecki, Géza ; Howell, Katherine B. ; Heighway, Jacqueline ; Olivier, Nelson ; Rodda, Jill ; Overmars, Isabella ; Vlaskamp, Danique R. M. ; Ware, Tyson L. ; Ardern-Holmes, Simone ; Lesca, Gaetan ; Alber, Michael ; Veggiotti, Pierangelo ; Scheffer, Ingrid E. ; Berkovic, Samuel F. ; Wolff, Markus ; Petrou, Steven
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2022-05, Vol.5 (1), p.515-515, Article 515
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 29
ArticlesPeer ReviewedFull Text
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
Author / Creator:Scelsa, Barbara ; Gasperini, Serena ; Righini, Andrea ; Iascone, Maria ; Brazzoduro, Valeria G. ; Veggiotti, Pierangelo
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e657-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 30
ArticlesPeer ReviewedFull Text
Sleep disturbances in SCN8A‐related disorders
Author / Creator:Furia, Francesca ; Johannesen, Katrine M. ; Bonardi, Claudia M. ; Previtali, Roberto ; Aledo‐Serrano, Angel ; Mastrangelo, Massimo ; Favaro, Jacopo ; Masnada, Silvia ; Micco, Valentina ; Proietti, Jacopo ; Veggiotti, Pierangelo ; Rubboli, Guido ; Cantalupo, Gaetano ; Olofsson, Kern ; Møller, Rikke S. ; Gardella, Elena
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2024-12, Vol.9 (6), p.2186-2197
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 31
ArticlesPeer ReviewedFull Text
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias
Author / Creator:Gana, Simone ; Veggiotti, Pierangelo ; Sciacca, Giusy ; Fedeli, Cristina ; Bersano, Anna ; Micieli, Giuseppe ; Maghnie, Mohamad ; Ciccone, Roberto ; Rossi, Elena ; Plunkett, Katie ; Bi, Weimin ; Sutton, Vernon R ; Zuffardi, Orsetta
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-08, Vol.20 (8), p.852-856
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 32
ArticlesPeer ReviewedFull Text
Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy
Author / Creator:Varesio, Costanza ; Gana, Simone ; Asaro, Alessia ; Ballante, Elena ; Cabini, Raffaella Fiamma ; Tartara, Elena ; Bagnaschi, Michela ; Pasca, Ludovica ; Valente, Marialuisa ; Orcesi, Simona ; Cereda, Cristina ; Veggiotti, Pierangelo ; Borgatti, Renato ; Valente, Enza Maria ; De Giorgis, Valentina
Publisher:Basel: MDPI AG
Journal title:Diagnostics (Basel), 2021-05, Vol.11 (6), p.948
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 33
ArticlesPeer ReviewedFull Text
Childhood Epilepsy with Centrotemporal Spikes: Clinical and Neuropsychological Outcomes 5 Years after Remission
Author / Creator:Varesio, Costanza ; Zanaboni, Martina Paola ; Salmin, Elisa Carlotta ; Totaro, Chiara ; Totaro, Martina ; Ballante, Elena ; Pasca, Ludovica ; Veggiotti, Pierangelo ; De Giorgis, Valentina
Publisher:MDPI
Journal title:Diagnostics (Basel), 2020-11, Vol.10 (11), p.931
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 34
ArticlesPeer ReviewedFull Text
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report
Author / Creator:Ronchi, Dario ; Cosi, Alessandra ; Tonduti, Davide ; Orcesi, Simona ; Bordoni, Andreina ; Fortunato, Francesco ; Rizzuti, Mafalda ; Sciacco, Monica ; Collotta, Martina ; Cagdas, Sophie ; Capovilla, Giuseppe ; Moggio, Maurizio ; Berardinelli, Angela ; Veggiotti, Pierangelo ; Comi, Giacomo P
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2011-07, Vol.11 (1), p.85-85, Article 85
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 35
ArticlesPeer ReviewedFull Text
Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options
Author / Creator:Brazzo, Daniela ; Pera, Maria Carmela ; Fasce, Marco ; Papalia, Grazia ; Balottin, Umberto ; Veggiotti, Pierangelo
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:Epilepsy Research and Treatment, 2012-01, Vol.2012 (2012), p.281-286
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 36
ArticlesPeer ReviewedFull Text
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial
Author / Creator:Knight, Elia M Pestana ; Amin, Sam ; Bahi-Buisson, Nadia ; Benke, Tim A ; Cross, J Helen ; Demarest, Scott T ; Olson, Heather E ; Specchio, Nicola ; Fleming, Thomas R ; Aimetti, Alex A ; Gasior, Maciej ; Devinsky, Orrin ; Belousova, Elena ; Belyaev, Oleg ; Ben-Zeev, Bruria ; Brunklaus, Andreas ; Ciliberto, Michael A. ; Darra, Francesca ; Davis, Ronald ; De Giorgis, Valentina ; Doronina, Olga ; Fahey, Michael ; Guerrini, Renzo ; Heydemann, Peter ; Khaletskaya, Olga ; Lisewski, Pawel ; Marsh, Eric D. ; Moosa, Ahsan N. ; Perry, Scott ; Philip, Sunny ; Rajaraman, Rajsekar R. ; Renfroe, Ben ; Saneto, Russell P. ; Scheffer, Ingrid E. ; Sogawa, Yoshimi ; Suter, Bernhardt ; Sweney, Matthew T. ; Tarquinio, Daniel ; Veggiotti, Pierangelo ; Wallace, Geoff ; Weisenberg, Judy ; Wilfong, Angus ; Wirrell, Elaine C. ; Zafar, Muhammad ; Zolnowska, Marta
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2022-05, Vol.21 (5), p.417-427
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 37
ArticlesPeer ReviewedFull Text
Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis
Author / Creator:Mauri, Alessia ; Duse, Alessandra ; Palm, Giacomo ; Previtali, Roberto ; Bova, Stefania Maria ; Olivotto, Sara ; Benedetti, Sara ; Coscia, Francesca ; Veggiotti, Pierangelo ; Cereda, Cristina
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-11, Vol.23 (21), p.13560
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 38
ArticlesPeer ReviewedFull Text
Impact of the Ketogenic Diet on Linear Growth in Children: A Single-Center Retrospective Analysis of 34 Cases
Author / Creator:Ferraris, Cinzia ; Guglielmetti, Monica ; Pasca, Ludovica ; De Giorgis, Valentina ; Ferraro, Ottavia Eleonora ; Brambilla, Ilaria ; Leone, Alessandro ; De Amicis, Ramona ; Bertoli, Simona ; Veggiotti, Pierangelo ; Tagliabue, Anna
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2019-06, Vol.11 (7), p.1442
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 39
ArticlesPeer ReviewedFull Text
Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial
Author / Creator:van Arnhem, Marleen M L ; van den Munckhof, Bart ; Arzimanoglou, Alexis ; Perucca, Emilio ; Metsähonkala, Liisa ; Rubboli, Guido ; Søndergaard Khinchi, Marianne ; de Saint-Martin, Anne ; Klotz, Kerstin A ; Jacobs, Julia ; Cross, J Helen ; Garcia Morales, Irene ; Otte, Wim M ; van Teeseling, Heleen C ; Leijten, Frans S S ; Braun, Kees P J ; Jansen, Floor E ; Jansen, Anna ; Lagae, Lieven ; Bast, Thomas ; von Spiczak, Sarah ; Kluger, Gerhard ; van Bogaert, Patrick ; Gaily, Eija ; Baer, Sarah ; Auvin, Stéphane ; Chin, Richard ; Zuberi, Sameer ; Dimova, Petia ; Craiu, C Dana ; Veggiotti, Pierangelo ; Ramantani, Georgia
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2024-02, Vol.23 (2), p.147-156
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 40
ArticlesPeer ReviewedFull Text
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critica...
Author / Creator:Dilena, Robertino ; DiFrancesco, Jacopo C. ; Soldovieri, Maria Virginia ; Giacobbe, Antonella ; Ambrosino, Paolo ; Mosca, Ilaria ; Galli, Maria Albina ; Guez, Sophie ; Fumagalli, Monica ; Miceli, Francesco ; Cattaneo, Dario ; Darra, Francesca ; Gennaro, Elena ; Zara, Federico ; Striano, Pasquale ; Castellotti, Barbara ; Gellera, Cinzia ; Varesio, Costanza ; Veggiotti, Pierangelo ; Taglialatela, Maurizio
Publisher:Cham: Elsevier Inc
Journal title:Neurotherapeutics, 2018-10, Vol.15 (4), p.1112-1126
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 21 to 40 of 52 results

Export record to excel

Export this record

Export record to excel

Long-term effects of a ketogenic diet on body composition and bone mineralization in GLUT-1 deficiency syndrome: A case series

Export this record

Export record to excel

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

Export this record

Export record to excel

Eating disorder risks and psychopathological distress in Italian high school adolescents

Export this record

Export record to excel

Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): study protocol for a multicentric longitudinal project

Export this record

Export record to excel

Cognitive, Behavioral and Socioemotional Development in a Cohort of Preterm Infants at School Age: A Cross-Sectional Study

Export this record

Export record to excel

Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature

Export this record

Export record to excel

A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy

Export this record

Export record to excel

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

Export this record

Export record to excel

Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

Export this record

Export record to excel

Sleep disturbances in SCN8A‐related disorders

Export this record

Export record to excel

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

Export this record

Export record to excel

Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy

Export this record

Export record to excel

Childhood Epilepsy with Centrotemporal Spikes: Clinical and Neuropsychological Outcomes 5 Years after Remission

Export this record

Export record to excel

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

Export this record

Export record to excel

Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options

Export this record

Export record to excel

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Export this record

Export record to excel

Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis

Export this record

Export record to excel

Impact of the Ketogenic Diet on Linear Growth in Children: A Single-Center Retrospective Analysis of 34 Cases

Export this record

Export record to excel

Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

Export this record

Export record to excel

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critica...

Refine your search