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Tytuł :
Correction: Sciacca, F. L., et al. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. Int. J. Mol. Sci. 2018, 19, 3675.
Autorzy :
Sciacca FL; Dipartimento di Diagnostica e Tecnologia Applicata, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Rizzo A; Dipartimento di Diagnostica e Tecnologia Applicata, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Bedini G; Laboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Capone F; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, 00128 Rome, Italy.
Di Lazzaro V; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, 00128 Rome, Italy.
Nava S; Laboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Acerbi F; Neurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Rossi Sebastiano D; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Binelli S; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Faragò G; Interventional Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Gioppo A; Interventional Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Grisoli M; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Bruzzone MG; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Ferroli P; Neurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Pantaleoni C; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Caputi L; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Gomez JV; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Parati EA; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Bersano A; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2019 Dec 18; Vol. 21 (1). Date of Electronic Publication: 2019 Dec 18.
Typ publikacji :
Published Erratum
Tytuł :
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.
Autorzy :
Bersano A; Cerebrovascular Unit, Neurological Institute 'C. Besta' IRCCS Foundation, Milan, Italy. .
Bedini G; Laboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nava S; Laboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Acerbi F; Neurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Sebastiano DR; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Binelli S; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Faragò G; Diagnostic Imaging Department & Interventional Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Grisoli M; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gioppo A; Diagnostic Imaging Department & Interventional Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ferroli P; Neurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Bruzzone MG; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Riva D; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ciceri E; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pantaleoni C; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Saletti V; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Esposito S; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nardocci N; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Zibordi F; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Caputi L; Cerebrovascular Unit, Neurological Institute 'C. Besta' IRCCS Foundation, Milan, Italy.
Marzoli SB; Neuropthalmologic Unit, IRCCS Istituto Auxologico, Milan, Italy.
Zedde ML; Neurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Pavanello M; Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy.
Raso A; Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy.
Capra V; Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy.
Pantoni L; L.Sacco Department of Biomedical and Clinical Science, University of Milan, Milan, Italy.
Sarti C; NEUROFARBA Department Neuroscience Section, University of Florence, Florence, Italy.
Pezzini A; Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.
Caria F; Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.
Dell' Acqua ML; Stroke Unit, Nuovo Ospedale Civile S Agostino Estense, University Hospital of Modena, Modena, Italy.
Zini A; Stroke Unit, Nuovo Ospedale Civile S Agostino Estense, University Hospital of Modena, Modena, Italy.
Baracchini C; Stroke Unit and Neurosonology Laboratory, Department of Neurological Sciences, University of Padua School of Medicine, Padua, Italy.
Farina F; Stroke Unit and Neurosonology Laboratory, Department of Neurological Sciences, University of Padua School of Medicine, Padua, Italy.
Sanguigni S; Department of Neurology, General Hospital Madonna del Soccorso, San Benedetto del Tronto, Italy.
De Lodovici ML; Stroke Unit Circolo Hospital and Macchi Foundation, Varese Hospital, Varese, Italy.
Bono G; Stroke Unit Circolo Hospital and Macchi Foundation, Varese Hospital, Varese, Italy.
Capone F; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 200, 00128, Rome, Italy.
Di Lazzaro V; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 200, 00128, Rome, Italy.
Lanfranconi S; Department of Neuroscience and Sensory Organs, Neurology Unit, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy.
Toscano M; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
Di Piero V; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
Sacco S; Department of Neurology, Avezzano Hospital, University of L'Aquila, L'Aquila, Italy.
Carolei A; Department of Neurology, Avezzano Hospital, University of L'Aquila, L'Aquila, Italy.
Toni D; Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
Paciaroni M; Stroke Unit and Division of Cardiovascular Medicine, University of Perugia, Perugia, Italy.
Caso V; Stroke Unit and Division of Cardiovascular Medicine, University of Perugia, Perugia, Italy.
Perrone P; Stroke Unit Legnano Hospital ASST Ovest Milanese, Legnano, Italy.
Calloni MV; Stroke Unit Legnano Hospital ASST Ovest Milanese, Legnano, Italy.
Romani A; IRCCS Foundation C. Mondino Neurological Institute, Pavia, Italy.
Cenzato M; Department of Neurosurgery, Niguarda Cà Granda Hospital, Milan, Italy.
Fratianni A; Department of Neurosurgery, Niguarda Cà Granda Hospital, Milan, Italy.
Ciusani E; Laboratory of Clinical Investigations, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Prontera P; Neonatology Unit and Prenatal Diagnosis (P.P.), Medical Genetic Unit, Ospedale S. Maria della Misericordia, Perugia, Italy.
Lasserve ET; Inserm UMR-S1161, Génétique et Physiopathologie des Maladies Cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
Blecharz K; Department of Neurosurgery, Charite Universitätsmedizin, Berlin, Germany.
Vajkoczy P; Department of Neurosurgery, Charite Universitätsmedizin, Berlin, Germany.
Parati EA; Cerebrovascular Unit, Neurological Institute 'C. Besta' IRCCS Foundation, Milan, Italy.
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Corporate Authors :
GEN-O-MA study group
Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2019 Mar; Vol. 40 (3), pp. 561-570. Date of Electronic Publication: 2019 Jan 03.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study
MeSH Terms :
Moyamoya Disease*/diagnostic imaging
Moyamoya Disease*/epidemiology
Moyamoya Disease*/genetics
Neuroimaging*
Community Networks/*statistics & numerical data
Stroke/*complications
Adolescent ; Adult ; Aged ; Brain Ischemia/complications ; Child ; Child, Preschool ; Disease Progression ; Female ; Humans ; Infant ; Infant, Newborn ; Italy ; Male ; Middle Aged ; Phenotype ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome.
Autorzy :
Luisa SF; Dipartimento di Diagnostica e Tecnologia Applicata, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Rizzo A; Dipartimento di Diagnostica e Tecnologia Applicata, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Bedini G; Laboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Capone F; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, 00128 Rome, Italy. .
Di Lazzaro V; Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, 00128 Rome, Italy. .
Nava S; Laboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Acerbi F; Neurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Rossi DS; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Binelli S; Neurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. simona.binelli@istituto-besta.it.
Faragò G; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Gioppo A; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Grisoli M; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Bruzzone MG; Neuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Ferroli P; Neurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Pantaleoni C; Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Caputi L; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Gomez JV; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Parati EA; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
Bersano A; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy. .
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2018 Nov 20; Vol. 19 (11). Date of Electronic Publication: 2018 Nov 20.
Typ publikacji :
Case Reports
MeSH Terms :
Chromosome Deletion*
Chromosome Duplication*
Chromosomes, Human, Pair 15/*genetics
Chromosomes, Human, Pair 18/*genetics
Moyamoya Disease/*genetics
Adult ; Female ; Humans ; Magnetic Resonance Imaging ; Moyamoya Disease/diagnostic imaging
Raport
Tytuł :
Pediatric NMDAR encephalitis: A single center observation study with a closer look at movement disorders.
Autorzy :
Granata T; Department of Pediatric Neuroscience, Foundation IRCCS Neurological Institute 'C. Besta', Milan, Italy. Electronic address: .
Matricardi S; Department of Pediatric Neuroscience, Foundation IRCCS Neurological Institute 'C. Besta', Milan, Italy.
Ragona F; Department of Pediatric Neuroscience, Foundation IRCCS Neurological Institute 'C. Besta', Milan, Italy.
Freri E; Department of Pediatric Neuroscience, Foundation IRCCS Neurological Institute 'C. Besta', Milan, Italy.
Zibordi F; Department of Pediatric Neuroscience, Foundation IRCCS Neurological Institute 'C. Besta', Milan, Italy.
Andreetta F; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute 'C. Besta', Milan, Italy.
Binelli S; Clinical Neurophysiology and Epilepsy Center, Foundation IRCCS Neurological Institute C. Besta, Italy.
Nardocci N; Department of Pediatric Neuroscience, Foundation IRCCS Neurological Institute 'C. Besta', Milan, Italy.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Mar; Vol. 22 (2), pp. 301-307. Date of Electronic Publication: 2018 Feb 01.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Anti-N-Methyl-D-Aspartate Receptor Encephalitis/*complications
Anti-N-Methyl-D-Aspartate Receptor Encephalitis/*diagnosis
Movement Disorders/*etiology
Adolescent ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Male ; Retrospective Studies
Czasopismo naukowe
Tytuł :
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.
Autorzy :
Michelucci R; IRCCS - Institute of Neurological Sciences of Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy.
Pulitano P; Department of Neurology and Psychiatry, University of Rome 'Sapienza', Policlinico Umberto 1° Hospital, Roma, Italy.
Di Bonaventura C; Department of Neurological Sciences, University of Rome 'Sapienza,' Roma, Italy.
Binelli S; C. Besta Foundation Neurological Institute, Milano, Italy.
Luisi C; Neurology Clinic, University of Bari, Bari, Italy.
Pasini E; IRCCS - Institute of Neurological Sciences of Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy. Electronic address: .
Striano S; Department of Neurological Sciences, Federico II University, Napoli, Italy.
Striano P; Muscular and Neurodegenerative Disease Unit, Institute 'G. Gaslini,' University of Genova, Italy.
Coppola G; Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, Italy.
La Neve A; Neurology Clinic, University of Bari, Bari, Italy.
Giallonardo AT; Department of Neurological Sciences, University of Rome 'Sapienza,' Roma, Italy.
Mecarelli O; Department of Neurology and Psychiatry, University of Rome 'Sapienza', Policlinico Umberto 1° Hospital, Roma, Italy.
Serioli E; Section of Padua, Institute of Neurosciences, Consiglio Nazionale delle Ricerche, Padova, Italy.
Dazzo E; Section of Padua, Institute of Neurosciences, Consiglio Nazionale delle Ricerche, Padova, Italy.
Fanciulli M; Porto Conte Ricerche, Alghero, Italy.
Nobile C; Section of Padua, Institute of Neurosciences, Consiglio Nazionale delle Ricerche, Padova, Italy.
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Źródło :
Epilepsy & behavior : E&B [Epilepsy Behav] 2017 Mar; Vol. 68, pp. 103-107. Date of Electronic Publication: 2017 Jan 28.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Phenotype*
Cell Adhesion Molecules, Neuronal/*genetics
Epilepsy, Frontal Lobe/*genetics
Extracellular Matrix Proteins/*genetics
Nerve Tissue Proteins/*genetics
Serine Endopeptidases/*genetics
Sleep Wake Disorders/*genetics
Adult ; Epilepsy, Frontal Lobe/diagnosis ; Female ; Humans ; Italy ; Male ; Pedigree ; Sleep Wake Disorders/diagnosis ; Young Adult
SCR Disease Name :
Autosomal Dominant Lateral Temporal Lobe Epilepsy
Czasopismo naukowe
Tytuł :
Movement-activated cortical myoclonus in Dravet syndrome.
Autorzy :
Canafoglia L; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: .
Ragona F; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Panzica F; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Piazza E; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Freri E; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Binelli S; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Scaioli V; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Avanzini G; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Granata T; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
Epilepsy research [Epilepsy Res] 2017 Feb; Vol. 130, pp. 47-52. Date of Electronic Publication: 2017 Jan 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsies, Myoclonic/*physiopathology
Movement/*physiology
Myoclonus/*physiopathology
Adolescent ; Adult ; Brain/physiopathology ; Child ; Child, Preschool ; Electroencephalography ; Electromyography ; Epilepsies, Myoclonic/genetics ; Evoked Potentials, Somatosensory ; Humans ; Muscle, Skeletal/physiopathology ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Signal Processing, Computer-Assisted ; Young Adult
Czasopismo naukowe
Tytuł :
PARADISE 24 instrument: An observational study on psychosocial difficulties, quality of life, and disability levels in patients with epilepsy.
Autorzy :
Quintas R; Neurology, Public Health, Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy; Division of Clinical Epileptology and Experimental Neurophysiology, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy. Electronic address: .
Cerniauskaite M; Neurology, Public Health, Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy; Neurosurgery Department, Radiotherapy Unit, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Giovannetti AM; Neurology, Public Health, Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy; Department of Neuroimmunology and Neuromuscular Diseases, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Schiavolin S; Neurology, Public Health, Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Raggi A; Neurology, Public Health, Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Covelli V; Neurology, Public Health, Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy; e-Campus University, Novedrate, Como, Italy.
Villani F; Division of Clinical Epileptology and Experimental Neurophysiology, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Didato G; Division of Clinical Epileptology and Experimental Neurophysiology, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Deleo F; Division of Clinical Epileptology and Experimental Neurophysiology, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Franceschetti S; Division of Neurophysiology and Diagnostic Epileptology, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Binelli S; Division of Neurophysiology and Diagnostic Epileptology, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Canafoglia L; Division of Neurophysiology and Diagnostic Epileptology, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Casazza M; Division of Neurophysiology and Diagnostic Epileptology, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
Leonardi M; Neurology, Public Health, Disability Unit, Neurological Institute C. Besta IRCCS Foundation, Milan, Italy.
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Źródło :
Epilepsy & behavior : E&B [Epilepsy Behav] 2016 Nov; Vol. 64 (Pt A), pp. 160-165. Date of Electronic Publication: 2016 Oct 12.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Interpersonal Relations*
Quality of Life*/psychology
Severity of Illness Index*
Disabled Persons/*psychology
Epilepsy/*psychology
Psychometrics/*instrumentation
Adult ; Cross-Sectional Studies ; Epilepsy/epidemiology ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities.
Autorzy :
Binelli S; Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy.
Ragona F; Unit of Neuropsychiatry, C. Besta Foundation Neurological Institute, Milan, Italy.
Canafoglia L; Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy.
Freri E; Unit of Neuropsychiatry, C. Besta Foundation Neurological Institute, Milan, Italy.
Saletti V; Unit of Developmental Neurology, C. Besta Foundation Neurological Institute, Milan, Italy.
Casazza M; Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy.
Gilioli I; Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy.
D'Arrigo S; Unit of Developmental Neurology, C. Besta Foundation Neurological Institute, Milan, Italy.
Visani E; Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy.
Panzica F; Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy.
Granata T; Unit of Neuropsychiatry, C. Besta Foundation Neurological Institute, Milan, Italy.
Riva D; Unit of Developmental Neurology, C. Besta Foundation Neurological Institute, Milan, Italy.
Franceschetti S; Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy .
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Źródło :
Journal of child neurology [J Child Neurol] 2015 Nov; Vol. 30 (13), pp. 1824-30. Date of Electronic Publication: 2015 May 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain/*physiopathology
Electroencephalography/*methods
Photic Stimulation/*methods
Child, Preschool ; Epilepsies, Myoclonic/diagnosis ; Epilepsies, Myoclonic/physiopathology ; Follow-Up Studies ; Humans
Czasopismo naukowe
Tytuł :
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Autorzy :
Canafoglia L; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia. .
Gilioli I; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Invernizzi F; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Sofia V; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Fugnanesi V; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Morbin M; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Chiapparini L; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Granata T; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Binelli S; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Scaioli V; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Garavaglia B; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Nardocci N; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Berkovic SF; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Franceschetti S; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
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Źródło :
Neurology [Neurology] 2015 Jul 28; Vol. 85 (4), pp. 316-24. Date of Electronic Publication: 2015 Jun 26.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Brain/*physiopathology
Brain Waves/*physiology
Evoked Potentials, Somatosensory/*physiology
Evoked Potentials, Visual/*physiology
Membrane Proteins/*genetics
Neuronal Ceroid-Lipofuscinoses/*genetics
Neuronal Ceroid-Lipofuscinoses/*physiopathology
Adolescent ; Adult ; Age of Onset ; Child ; Electroencephalography ; Electroretinography ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
Autorzy :
Dazzo E; Section of Padua, Institute of Neuroscience, Consiglio Nazionale delle Ricerche, 35121 Padova, Italy.
Fanciulli M; Porto Conte Ricerche, 07041 Alghero, Sassari, Italy.
Serioli E; Section of Padua, Institute of Neuroscience, Consiglio Nazionale delle Ricerche, 35121 Padova, Italy.
Minervini G; Department of Biomedical Sciences, University of Padua, 35121 Padova, Italy.
Pulitano P; Department of Neurology and Psychiatry, Sapienza University of Rome, 00185 Roma, Italy.
Binelli S; Carlo Besta Foundation Neurological Institute, 20133 Milano, Italy.
Di Bonaventura C; Department of Neurology and Psychiatry, Sapienza University of Rome, 00185 Roma, Italy.
Luisi C; Neurology Clinic, University of Bari, 70124 Bari, Italy.
Pasini E; IRCCS-Institute of Neurological Sciences, Bellaria Hospital, 40139 Bologna, Italy.
Striano S; Department of Neurosciences and Reproductive and Odontostomatological Sciences, School of Medicine, University of Naples Federico II, 80131 Napoli, Italy.
Striano P; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa and Giannina Gaslini Institute, 16148 Genova, Italy.
Coppola G; Child and Adolescent Psychiatry, Faculty of Medicine and Surgery, University of Salerno, 84100 Salerno, Italy.
Chiavegato A; Section of Padua, Institute of Neuroscience, Consiglio Nazionale delle Ricerche, 35121 Padova, Italy.
Radovic S; IGA Technology Services, 33100 Udine, Italy.
Spadotto A; IGA Technology Services, 33100 Udine, Italy.
Uzzau S; Porto Conte Ricerche, 07041 Alghero, Sassari, Italy.
La Neve A; Neurology Clinic, University of Bari, 70124 Bari, Italy.
Giallonardo AT; Department of Neurology and Psychiatry, Sapienza University of Rome, 00185 Roma, Italy.
Mecarelli O; Department of Neurology and Psychiatry, Sapienza University of Rome, 00185 Roma, Italy.
Tosatto SC; Section of Padua, Institute of Neuroscience, Consiglio Nazionale delle Ricerche, 35121 Padova, Italy; Department of Biomedical Sciences, University of Padua, 35121 Padova, Italy.
Ottman R; Departments of Epidemiology and Neurology and the Gertrude H. Sergievsky Center, Columbia University, New York, NY 10032, USA; Division of Epidemiology, New York State Psychiatric Institute, New York, NY 10032, USA.
Michelucci R; IRCCS-Institute of Neurological Sciences, Bellaria Hospital, 40139 Bologna, Italy.
Nobile C; Section of Padua, Institute of Neuroscience, Consiglio Nazionale delle Ricerche, 35121 Padova, Italy; Department of Biomedical Sciences, University of Padua, 35121 Padova, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2015 Jun 04; Vol. 96 (6), pp. 992-1000.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Models, Molecular*
Cell Adhesion Molecules, Neuronal/*genetics
Epilepsy, Frontal Lobe/*genetics
Epilepsy, Frontal Lobe/*pathology
Extracellular Matrix Proteins/*genetics
Mutation, Missense/*genetics
Nerve Tissue Proteins/*genetics
Serine Endopeptidases/*genetics
Sleep Wake Disorders/*genetics
Sleep Wake Disorders/*pathology
Animals ; Base Sequence ; Cell Adhesion Molecules, Neuronal/blood ; Cell Adhesion Molecules, Neuronal/chemistry ; Cell Adhesion Molecules, Neuronal/metabolism ; Chromosome Mapping ; Exome ; Extracellular Matrix Proteins/blood ; Extracellular Matrix Proteins/chemistry ; Extracellular Matrix Proteins/metabolism ; Fluorescent Antibody Technique ; Gene Components ; Humans ; Immunoblotting ; Intercellular Signaling Peptides and Proteins ; Molecular Sequence Data ; Nerve Tissue Proteins/blood ; Nerve Tissue Proteins/chemistry ; Nerve Tissue Proteins/metabolism ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Protein Conformation ; Protein Folding ; Proteins/metabolism ; Rats ; Sequence Analysis, DNA ; Serine Endopeptidases/blood ; Serine Endopeptidases/chemistry ; Serine Endopeptidases/metabolism
SCR Disease Name :
Autosomal Dominant Lateral Temporal Lobe Epilepsy
Czasopismo naukowe

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