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Wyszukujesz frazę ""Canafoglia, L."" wg kryterium: Autor


Tytuł :
Epileptic phenotypes in children with early-onset mitochondrial diseases.
Autorzy :
Matricardi S; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Neuropsychiatry, Children's Hospital 'G. Salesi', Ospedali Riuniti Ancona, Ancona, Italy.
Canafoglia L; Department of Neurophysiology and Diagnostic Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ardissone A; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Moroni I; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ghezzi D; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Lamantea E; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nardocci N; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Department of Neurophysiology and Diagnostic Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
Acta neurologica Scandinavica [Acta Neurol Scand] 2019 Sep; Vol. 140 (3), pp. 184-193. Date of Electronic Publication: 2019 Jun 06.
Typ publikacji :
Journal Article
MeSH Terms :
Epilepsy/*epidemiology
Mitochondrial Diseases/*epidemiology
Adolescent ; Child ; Child, Preschool ; Epilepsy/etiology ; Epilepsy/pathology ; Female ; Humans ; Infant ; Male ; Mitochondrial Diseases/complications ; Mitochondrial Diseases/pathology ; Phenotype
Czasopismo naukowe
Tytuł :
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
Autorzy :
DiFrancesco JC; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology and Epilepsy Center, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy. Electronic address: .
Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Milanesi R; Molecular Physiology and Neurobiology, The PaceLab, Department of Biosciences, Università degli Studi di Milano, Milan, Italy.
Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ferrarese C; Department of Neurology and Epilepsy Center, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.
Magri S; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Costa C; Neurology Unit and Epilepsy Center, Department of Medicine, University of Perugia, Ospedale S. Maria della Misericordia, Perugia, Italy.
Labate A; Institute of Neurology, University 'Magna Graecia', Catanzaro, Italy.
Gambardella A; Institute of Neurology, University 'Magna Graecia', Catanzaro, Italy.
Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Binda A; School of Medicine and Surgery, Milan Center for Neuroscience and Nanomedicine Center, University of Milano-Bicocca, Monza, Italy.
Rivolta I; School of Medicine and Surgery, Milan Center for Neuroscience and Nanomedicine Center, University of Milano-Bicocca, Monza, Italy.
Di Gennaro G; IRCCS NEUROMED, Pozzilli, IS, Italy.
Casciato S; IRCCS NEUROMED, Pozzilli, IS, Italy.
D'Incerti L; Neuroradiology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Barbuti A; Molecular Physiology and Neurobiology, The PaceLab, Department of Biosciences, Università degli Studi di Milano, Milan, Italy.
DiFrancesco D; Molecular Physiology and Neurobiology, The PaceLab, Department of Biosciences, Università degli Studi di Milano, Milan, Italy.
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
Epilepsy research [Epilepsy Res] 2019 Jul; Vol. 153, pp. 49-58. Date of Electronic Publication: 2019 Apr 08.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Epilepsy/*genetics
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/*genetics
Mutation/*genetics
Potassium Channels, Voltage-Gated/*genetics
Adaptor Proteins, Signal Transducing ; Cadherins/genetics ; Carrier Proteins/genetics ; Caveolin 3/genetics ; Cohort Studies ; Electroencephalography ; Family Health ; Female ; Filamins/genetics ; Genetic Testing ; Guanylate Kinases ; Humans ; Male ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics ; Receptors, Cytoplasmic and Nuclear/genetics
Czasopismo naukowe
Tytuł :
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Autorzy :
Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ciardullo S; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Tricomi G; Unit of Infancy and Adolescence Neuropsychiatry, Azienda Unità Sanitaria Locale della Romagna, Cesena, Italy.
Venerando A; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Salis B; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Villani F; Clinical and Experimental Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nardocci N; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
DiFrancesco JC; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. .; Department of Neurology, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy. .
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. .
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Źródło :
Journal of neurology [J Neurol] 2019 Jun; Vol. 266 (6), pp. 1439-1448. Date of Electronic Publication: 2019 Mar 20.
Typ publikacji :
Journal Article
MeSH Terms :
Carbohydrate Metabolism, Inborn Errors*/complications
Carbohydrate Metabolism, Inborn Errors*/diagnosis
Carbohydrate Metabolism, Inborn Errors*/genetics
Chorea*/etiology
Chorea*/genetics
Developmental Disabilities*/etiology
Developmental Disabilities*/genetics
Epilepsy*/etiology
Epilepsy*/genetics
Intellectual Disability*/etiology
Intellectual Disability*/genetics
Microcephaly*/etiology
Microcephaly*/genetics
Glucose Transporter Type 1/*genetics
Monosaccharide Transport Proteins/*deficiency
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Monosaccharide Transport Proteins/genetics ; Phenotype ; Young Adult
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
Usefulness of EEG-EMG coherence analysis to confirm epileptic nature of spells mimicking hemifacial spasms.
Autorzy :
Ferlazzo E; Department of Medical and Surgical Sciences, Magna Græcia University of Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital, Reggio Calabria, Italy; Institute of Molecular Bioimaging and Physiology, National Research Council, Catanzaro, Italy. Electronic address: .
Gasparini S; Department of Medical and Surgical Sciences, Magna Græcia University of Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital, Reggio Calabria, Italy.
Sueri C; Regional Epilepsy Centre, Great Metropolitan Hospital, Reggio Calabria, Italy.
Cianci V; Regional Epilepsy Centre, Great Metropolitan Hospital, Reggio Calabria, Italy.
Branca D; Regional Epilepsy Centre, Great Metropolitan Hospital, Reggio Calabria, Italy.
Franceschetti S; Department of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Panzica F; Department of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Canafoglia L; Department of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Aguglia U; Department of Medical and Surgical Sciences, Magna Græcia University of Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital, Reggio Calabria, Italy; Institute of Molecular Bioimaging and Physiology, National Research Council, Catanzaro, Italy. Electronic address: .
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Źródło :
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2018 Aug; Vol. 129 (8), pp. 1649-1650. Date of Electronic Publication: 2018 Jun 08.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Electroencephalography/*methods
Electromyography/*methods
Epilepsy/*diagnostic imaging
Hemifacial Spasm/*diagnostic imaging
Diagnosis, Differential ; Electroencephalography/standards ; Electromyography/standards ; Epilepsy/physiopathology ; Female ; Hemifacial Spasm/physiopathology ; Humans ; Middle Aged ; Video Recording/methods
Raport
Tytuł :
The impact of genetic and experimental studies on classification and therapy of the epilepsies.
Autorzy :
Avanzini G; Dept. of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute C. Besta, 20133 Milan, Italy. Electronic address: .
Mantegazza M; Institute of Molecular and Cellular Pharmacology (IPMC), CNRS UMR7275, 06560, Valbonne-Sophia, Antipolis, France; University Côte d'Azur (UCA), 06560, Valbonne-Sophia, Antipolis, France.
Terragni B; Dept. of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute C. Besta, 20133 Milan, Italy.
Canafoglia L; Dept. of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute C. Besta, 20133 Milan, Italy.
Scalmani P; Dept. of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute C. Besta, 20133 Milan, Italy.
Franceschetti S; Dept. of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute C. Besta, 20133 Milan, Italy.
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Źródło :
Neuroscience letters [Neurosci Lett] 2018 Feb 22; Vol. 667, pp. 17-26. Date of Electronic Publication: 2017 May 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Phenotype*
Brain Diseases/*genetics
Epilepsy/*genetics
Epilepsy/*therapy
Animals ; Genetic Therapy ; Humans ; Mutation/genetics ; Seizures/genetics
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 :
Paroxysmal non-epileptic motor events in childhood: a clinical and video-EEG-polymyographic study.
Autorzy :
Canavese C; UO Neuropsichiatria Infantile Fondazione, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L
Costa C
Zibordi F
Zorzi G
Binelli S
Franceschetti S
Nardocci N
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Źródło :
Developmental medicine and child neurology [Dev Med Child Neurol] 2012 Apr; Vol. 54 (4), pp. 334-8. Date of Electronic Publication: 2012 Jan 28.
Typ publikacji :
Journal Article
MeSH Terms :
Electroencephalography*
Videotape Recording*
Epilepsy/*diagnosis
Movement Disorders/*diagnosis
Adolescent ; Child ; Child, Preschool ; Epilepsy/complications ; Female ; Humans ; Infant ; Infant, Newborn ; Italy ; Male ; Movement Disorders/complications ; Nervous System Diseases/complications ; Nervous System Diseases/diagnosis
Czasopismo naukowe
Tytuł :
Focal epilepsies in adult patients attending two epilepsy centers: classification of drug-resistance, assessment of risk factors, and usefulness of "new" antiepileptic drugs.
Autorzy :
Gilioli I; C. Besta Foundation Neurological Institute, Epilepsy Center, Milan, Italy.
Vignoli A
Visani E
Casazza M
Canafoglia L
Chiesa V
Gardella E
La Briola F
Panzica F
Avanzini G
Canevini MP
Franceschetti S
Binelli S
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Źródło :
Epilepsia [Epilepsia] 2012 Apr; Vol. 53 (4), pp. 733-40. Date of Electronic Publication: 2012 Feb 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Anticonvulsants/*adverse effects
Epilepsy/*drug therapy
Epilepsy/*etiology
Adult ; Anticonvulsants/classification ; Cohort Studies ; Databases, Bibliographic/statistics & numerical data ; Drug Resistance/drug effects ; Electroencephalography ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Treatment Outcome
Czasopismo naukowe

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