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Gaetano Tortorella

Research Profile

Disorders

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Italy

Living Beings

Infants

Physiology

Anatomy

Brain

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Publications

TOP 3
Carla Marini; Davide Mei; Gaetano Tortorella; Donatella Lettori; Emma Losito; Domenica Battaglia; Grazia Bruccini; Valerio Conti; Renzo Guerrini
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
Tiziana Pisano; Stephen Robertson; Felix Rosenow; Ingrid E Scheffer; Waney Squier; Pierre Thomas; Gaetano Tortorella; Eva Andermann; Frederick Andermann; A James Barkovich; Samuel F Berkovic; Susan Blaser; William B Dobyns; Richard J Leventer; Carla Marini; George McGillivray; Elena Parrini; Renzo Guerrini
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Gabriella Di Rosa; Sonia Messina; Giuseppina Pustorino; Maria Spanò; Enrico Bertini; Adele D'Amico; Gaetano Tortorella
A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features.

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All Publications

2012: Carla Marini; Davide Mei; Gaetano Tortorella; Donatella Lettori; Emma Losito; Domenica Battaglia; Grazia Bruccini; Valerio Conti; Renzo Guerrini
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
Neurology 2012;79(21):2109-14.
2012: Tiziana Pisano; Stephen Robertson; Felix Rosenow; Ingrid E Scheffer; Waney Squier; Pierre Thomas; Gaetano Tortorella; Eva Andermann; Frederick Andermann; A James Barkovich; Samuel F Berkovic; Susan Blaser; William B Dobyns; Richard J Leventer; Carla Marini; George McGillivray; Elena Parrini; Renzo Guerrini
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Neurology 2012;79(12):1244-51.
2011: Gabriella Di Rosa; Sonia Messina; Giuseppina Pustorino; Maria Spanò; Enrico Bertini; Adele D'Amico; Gaetano Tortorella
A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features.
Epileptic disorders : international epilepsy journal with videotape 2011;13(3):259-62.
2011: Marilena Briguglio; Alessandro Ferraris; Roberto Gasparotti; Eva Germanò; Lucio Giordano; Sara Loddo; Serena Micheletti; Francesca Ormitti; Lorenzo Pinelli; Andrea Rossi; Mariasavina Severino; Gaetano Tortorella; Laura Bernardini; Enza Maria Valente
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.
Orphanet journal of rare diseases 2011;6():36.
2009: Gabriella Di Rosa; Carlo Dionisi Vici; Paola Blasi; S R Crutchfield; Patrizia Malaspina; Cristiano Rizzo; Gaetano Tortorella; K Michael Gibson
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.
Journal of inherited metabolic disease 2009;32 Suppl 1():S201-5.
2009: Sonia Messina; Gaetano Tortorella; D Concolino; M Spanò; Adele D'Amico; Claudio Bruno; Filippo M Santorelli; Eugenio Mercuri; Enrico Bertini
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.
Neurology 2009;73(19):1599-601.
2009: Giovanni Provenzano; E Mannarino; Ferdinanda Annesi; Elvira De Marco; Francesca E Rocca; V Greco; V Scornaienchi; Patrizia Tarantino; Donatella Civitelli; Aldo Quattrone; Gaetano Tortorella; G Annesi
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy.
Human genetics 2009;126(2):337.
2008: Sonia Messina; Marina Mora; E Pegoraro; Antonella Pini; Tiziana Mongini; Adele D'Amico; Marika Pane; C Aiello; Claudio Bruno; R Biancheri; Angela Berardinelli; C Boito; L Farina; Lucia Morandi; I Moroni; raffaele pezzani; A Pichiecchio; Enzo Ricci; A Ruggieri; S Saredi; C Scuderi; Alessandra Tessa; Antonio Toscano; Gaetano Tortorella; C P Trevisan; C Uggetti; Filippo M Santorelli; Enrico Bertini; Eugenio Mercuri
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Neuromuscular disorders : NMD 2008;18(7):565-71.
2008: Gabriella Di Rosa; Giuseppina Pustorino; Maria Spano; Dominique Campion; Marilena Calabrò; Mohammed Aguennouz; Daniela Caccamo; Solenn Legallic; Domenica Lucia Sgro; Maria Bonsignore; Gaetano Tortorella
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.
Psychiatric genetics 2008;18(1):40-2.
2007: Gabriella Di Rosa; Sarina Attinà; Maria Spanò; Giulia Ingegneri; Domenica L Sgrò; Giuseppina Pustorino; Maria Bonsignore; Vincenzo Trapani-Lombardo; Gaetano Tortorella
Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms.
Headache 2007;47(9):1342-4.
2007: Ferdinanda Annesi; Antonio Gambardella; Roberto Michelucci; Amedeo Bianchi; Carla Marini; Maria Paola Canevini; Giuseppe Capovilla; Maurizio Elia; Daniela Buti; Rosanna Chifari; Pasquale Striano; Francesca E Rocca; Barbara Castellotti; Francesco Cali; Angelo Labate; Emilio LePiane; Dante Besana; Vito Sofia; Giulietta Tabiadon; Gaetano Tortorella; Piernanda Vigliano; Aglaia Vignoli; Francesca Beccaria; Grazia Annesi; Salvatore Striano; Umberto Aguglia; Renzo Guerrini; Aldo Quattrone
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Epilepsia 2007;48(9):1686-90.
2007: Rosalia Silvestri; Antonella Gagliano; Tiziana Calarese; Irene Aricò; Clemente Cedro; Rosaria Condurso; Eva Germanò; Giuseppe Vita; Gaetano Tortorella
Ictal and interictal EEG abnormalities in ADHD children recorded over night by video-polysomnography.
Epilepsy research 2007;75(2-3):130-7.
2007: Antonella Gagliano; Edoardo Ferlazzo; Eva Germanò; Tiziana Calarese; Angela Magazù; Caterina Sferro; Gaetano Tortorella
Neuropsychological deficits in monozygotic twins with childhood epilepsy with occipital paroxysms.
Journal of clinical and experimental neuropsychology 2007;29(5):488-95.
2007: Giuseppina Pustorino; Maria Spano; Domenica Lucia Sgro; Gabriella Di Rosa; Giovanni Tricomi; Dorotea Bellantone; Gaetano Tortorella
Status gelasticus associated with levetiracetam as add-on treatment.
Epileptic disorders : international epilepsy journal with videotape 2007;9(2):186-9.
2007: Davide Mei; Elena Parrini; M Pasqualetti; Gaetano Tortorella; E Franzoni; U Giussani; Carla Marini; S Migliarini; Renzo Guerrini
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.
Neurology 2007;68(6):446-50.
2006: Carmelo Nucera; Mario Vaccaro; Mariacarla Moleti; Carmen Priolo; Gaetano Tortorella; Adriano Angioni; Riccardo Ientile; Maria Antonia Violi; Massimo Loda; Francesco Trimarchi; Francesco Vermiglio
antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome).
The Journal of clinical endocrinology and metabolism 2006;91(6):2021-6.
2006: Maria Bonsignore; Alessandra Tessa; Gabriella Di Rosa; Fiorella Piemonte; Carlo Dionisi Vici; Alessandro Simonati; Filippo Calamoneri; Gaetano Tortorella; Filippo M Santorelli
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2006;10(3):154-6.
2006: Eva Germanò; Antonella Gagliano; Angela Magazù; Tiziana Calarese; M E Calabrò; Maria Bonsignore; Gaetano Tortorella; Filippo Calamoneri
[Neurobiology of autism: Study of a sample of autistic children].
Minerva pediatrica 2006;58(2):109-20.
2006: Gabriella Di Rosa; Maria Spanò; Giuseppina Pustorino; M D Ferrari; A H Stam; Domenica L Sgrò; E Mannarino; Maria Bonsignore; Gaetano Tortorella
Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up.
Neurology 2006;66(1):146.
2004: Francesco Vermiglio; Vincenzo Pio Lo Presti; Mariacarla Moleti; M Sidoti; Gaetano Tortorella; G Scaffidi; Maria Grazia Castagna; Filiberto Mattina; Maria Antonia Violi; A Crisà; A Artemisia; Francesco Trimarchi
Attention deficit and hyperactivity disorders in the offspring of mothers exposed to mild-moderate iodine deficiency: a possible novel iodine deficiency disorder in developed countries.
The Journal of clinical endocrinology and metabolism 2004;89(12):6054-60.
2004: Giangennaro Coppola; Salvatore Mangano; Gaetano Tortorella; Andrea Pelliccia; Antonio Fels; Angela Romano; Rosaria Nardello; Francesco Habetswallner; Felicia Licciardi; Francesca Felicia Operto; Antonio Pascotto
Levetiracetam during 1-year follow-up in children, adolescents, and young adults with refractory epilepsy.
Epilepsy research 2004;59(1):35-42.
2003: Renzo Guerrini; Francesca Moro; Eva Andermann; Elaine Hughes; Daniela D'Agostino; Rosalba Carrozzo; Andrea Bernasconi; Frances Flinter; Lucio Parmeggiani; Anna Volzone; Elena Parrini; Davide Mei; Jozef M Jarosz; Robin G Morris; Polly Pratt; Gaetano Tortorella; François Dubeau; Frederick Andermann; William B Dobyns; Soma Das
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Annals of neurology 2003;54(1):30-7.
2003: Ferdinando Squitieri; Giuseppina Pustorino; Milena Cannella; Antonio Toscano; Vittorio Maglione; Letterio Morgante; Gaetano Tortorella
Highly disabling cerebellar presentation in Huntington disease.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2003;10(4):443-4.
2003: Carmelo Rodolico; Paolo Girlanda; C Nicolosi; Giuseppe Vita; Maria Bonsignore; Gaetano Tortorella
Chiari I malformation mimicking myasthenia gravis.
Journal of neurology, neurosurgery, and psychiatry 2003;74(3):393.
2002: Giangennaro Coppola; Graziella Caliendo; Pierangelo Veggiotti; Antonino Romeo; Gaetano Tortorella; Pasquale De Marco; Antonio Pascotto
Topiramate as add-on drug in children, adolescents and young adults with Lennox-Gastaut syndrome: an Italian multicentric study.
Epilepsy research 2002;51(1-2):147-53.
2002: Francesca Moro; Rosalba Carrozzo; Pierangelo Veggiotti; Gaetano Tortorella; D Toniolo; Anna Volzone; Renzo Guerrini
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
Neurology 2002;58(6):916-21.
2002: Giangennaro Coppola; Giuseppe Capovilla; Alessandra Montagnini; Antonino Romeo; Maria Spanò; Gaetano Tortorella; Pierangelo Veggiotti; Maurizio Viri; Antonio Pascotto
Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial.
Epilepsy research 2002;49(1):45-8.