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Tytuł :
SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus.
Autorzy :
Canafoglia L; Unit of Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Franceschetti S; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1). Electronic address: .
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Messina G; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Scaioli V; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Nardocci N; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Gellera C; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Panzica F; Biomedical Engineering, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
DiFrancesco JC; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1); Department of Neurology, San Gerardo Hospital, School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMi), University of Milano-Bicocca, Monza, Italy.
Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
Seizure [Seizure] 2020 Nov; Vol. 82, pp. 56-58. Date of Electronic Publication: 2020 Sep 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Early Parkinsonism in a Senegalese girl with Lafora disease.
Autorzy :
Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.
Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.
Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.
Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.
Gabbiadini S; Unit of Child Neuropsychiatry, Ospedale Papa Giovanni XXIII, Bergamo.
Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.
Scaioli V; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.
DiFrancesco JC; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano, Department of Neurology and Epilepsy Center, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.
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Źródło :
Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2020 Apr 01; Vol. 22 (2), pp. 233-236.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Guillain-Barré Syndrome After Exposure to Mercury.
Autorzy :
Pigatto PD; Department of Biomedical, Surgical and Dental Sciences, IRCCS Istituto Ortopedico Galeazzi, University of Milan, Milan, Italy.
Scaioli V; UOC Neurology, Clinical Neurophysiology, Besta Institute Foundation IRCCS, Milan, Italy.
Guzzi G; Italian Association for Metals and Biocompatibility Research - A.I.R.M.E.B., Milan, Italy.
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Źródło :
Journal of child neurology [J Child Neurol] 2020 Jan; Vol. 35 (1), pp. 84-85. Date of Electronic Publication: 2019 Sep 27.
Typ publikacji :
Letter
Opinia redakcyjna
Tytuł :
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Autorzy :
Previtali SC; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy .
Zhao E; Division of Genetics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Lazarevic D; Center for Translational Genomics and Bioinformatics, IRCCS Ospedale San Raffaele, Milano, Italy.
Pipitone GB; Laboratory of Clinical and Molecular Biology and Unit of Genomics for Diagnosis of Genetic Diseases, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy.
Fabrizi GM; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Napoli, Italy.
Mazzeo A; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Schenone A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genova, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Vita G; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Bellone E; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genova, Italy.
Ferrarini M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Garibaldi M; Unit of Neuromuscular Disorders, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital, Roma, Italy.
Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Padua L; Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica, Roma, Italy.
Pennisi E; Ospedale San Filippo Neri, Roma, Italy.
Pisciotta C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Riva N; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy.
Scaioli V; Neurophysiopathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Scarlato M; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy.
Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Napoli, Italy.
Geroldi A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genova, Italy.
Jordanova A; VIB-UAntwerp Center for Molecular Neurology, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.
Ferrari M; Laboratory of Clinical and Molecular Biology and Unit of Genomics for Diagnosis of Genetic Diseases, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy.
Molineris I; Center for Translational Genomics and Bioinformatics, IRCCS Ospedale San Raffaele, Milano, Italy.
Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Comi G; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy.
Carrera P; Laboratory of Clinical and Molecular Biology and Unit of Genomics for Diagnosis of Genetic Diseases, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy.
Devoto M; Division of Genetics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Translational and Precision Medicine, University La Sapienza, Roma, Italy.
Bolino A; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy .
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Źródło :
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2019 Oct; Vol. 90 (10), pp. 1171-1179. Date of Electronic Publication: 2019 Jun 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Charcot-Marie-Tooth Disease/*genetics
Muscular Atrophy, Spinal/*genetics
Adult ; Aged ; Agrin/genetics ; Charcot-Marie-Tooth Disease/physiopathology ; Computational Biology ; DNA Repair Enzymes/genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Middle Aged ; Multienzyme Complexes/genetics ; Muscle Proteins/genetics ; Muscular Atrophy, Spinal/physiopathology ; Pedigree ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Protein-Serine-Threonine Kinases/genetics ; Receptors, sigma/genetics ; Rho Guanine Nucleotide Exchange Factors/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.
Autorzy :
Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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.
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Chiapparini L; Neuroradiology Unit, 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.
Scaioli V; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: .
DiFrancesco JC; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology, San Gerardo Hospital, School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMi), University of Milano-Bicocca, Monza, Italy.
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Źródło :
Seizure [Seizure] 2019 Feb; Vol. 65, pp. 106-108. Date of Electronic Publication: 2019 Jan 08.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Kv1.2 Potassium Channel/*genetics
Myoclonic Epilepsies, Progressive/*genetics
Myoclonic Epilepsies, Progressive/*physiopathology
Adult ; Electroencephalography ; Gain of Function Mutation/genetics ; Humans ; Male ; Young Adult
Raport
Tytuł :
Sensory trick in task-specific tremor.
Autorzy :
Bagella CF; Department of Movement Disorders, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Romito LM; Department of Movement Disorders, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Scaioli V; Department of Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Elia AE; Department of Movement Disorders, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. .
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2017 Jul; Vol. 38 (7), pp. 1341-1342. Date of Electronic Publication: 2017 Mar 18.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Sensation/*physiology
Touch/*physiology
Tremor/*physiopathology
Aged ; Electroencephalography ; Female ; Humans ; Magnetic Resonance Imaging ; Physical Stimulation ; Tremor/diagnostic imaging
Raport
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 :
When it rains it pours: amyotrophic lateral sclerosis concealed with Isaac's syndrome.
Autorzy :
Mantero V; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy. .
Rigamonti A; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
Basso F; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
Stanzani L; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
Scaioli V; Department of Neurophysiology-Epilepsy Center, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Salmaggi A; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2016 Jul; Vol. 37 (7), pp. 1181-3. Date of Electronic Publication: 2016 Feb 25.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Amyotrophic Lateral Sclerosis/*complications
Isaacs Syndrome/*diagnosis
Isaacs Syndrome/*etiology
Electromyography ; Evoked Potentials, Motor/physiology ; Female ; Humans ; Isaacs Syndrome/immunology ; Middle Aged
Raport
Tytuł :
Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.
Autorzy :
Sagnelli A; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Scaioli V; Department of Neurophysiology-Epilepsy Center, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Piscosquito G; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Salsano E; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Dalla Bella E; Headache and Neuroalgology Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Pareyson D; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2015 Oct; Vol. 25 (10), pp. 800-1. Date of Electronic Publication: 2015 Jul 29.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Charcot-Marie-Tooth Disease/*complications
Charcot-Marie-Tooth Disease/*diagnosis
Muscular Disorders, Atrophic/*complications
Muscular Disorders, Atrophic/*diagnosis
Charcot-Marie-Tooth Disease/genetics ; Comorbidity ; Humans ; Male ; Middle Aged ; Muscular Disorders, Atrophic/genetics
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 :
Significance of multiple neurophysiological measures in patients with chronic disorders of consciousness.
Autorzy :
Rossi Sebastiano D; Department of Neurophysiology-Epilepsy Center, C. Besta Foundation Neurological Institute, Milan, Italy.
Panzica F; Department of Neurophysiology-Epilepsy Center, C. Besta Foundation Neurological Institute, Milan, Italy.
Visani E; Department of Neurophysiology-Epilepsy Center, C. Besta Foundation Neurological Institute, Milan, Italy.
Rotondi F; Department of Neurophysiology-Epilepsy Center, C. Besta Foundation Neurological Institute, Milan, Italy; Department of Informatics, Bioengineering, Robotics and System Engineering, University of Genova, Genova, Italy.
Scaioli V; Department of Neurophysiology-Epilepsy Center, C. Besta Foundation Neurological Institute, Milan, Italy.
Leonardi M; Unit of Neurology, Public Health, Disability Unit, C. Besta Foundation Neurological Institute, Milan, Italy.
Sattin D; Unit of Neurology, Public Health, Disability Unit, C. Besta Foundation Neurological Institute, Milan, Italy.
D'Incerti L; Department of Neuroradiology, C. Besta Foundation Neurological Institute, Milan, Italy.
Parati E; Department of Cerebrovascular Diseases, C. Besta Foundation Neurological Institute, Milan, Italy.
Ferini Strambi L; Sleep Disorders Center, Università Vita-Salute San Raffaele, Milan, Italy.
Franceschetti S; Department of Neurophysiology-Epilepsy Center, C. Besta Foundation Neurological Institute, Milan, Italy. Electronic address: .
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Źródło :
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2015 Mar; Vol. 126 (3), pp. 558-64. Date of Electronic Publication: 2014 Jul 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain Injuries/*physiopathology
Consciousness/*physiology
Consciousness Disorders/*physiopathology
Evoked Potentials/*physiology
Adult ; Aged ; Chronic Disease ; Electroencephalography ; Female ; Humans ; Male ; Middle Aged ; Sleep/physiology
Czasopismo naukowe
Tytuł :
A new mutation in GJC2 associated with subclinical leukodystrophy.
Autorzy :
Abrams CK; Departments of Neurology and Physiology and Pharmacology, SUNY Downstate, 450 Clarkson Avenue, Brooklyn, NY, 11203, USA, .
Scherer SS
Flores-Obando R
Freidin MM
Wong S
Lamantea E
Farina L
Scaioli V
Pareyson D
Salsano E
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Źródło :
Journal of neurology [J Neurol] 2014 Oct; Vol. 261 (10), pp. 1929-38. Date of Electronic Publication: 2014 Jul 25.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Connexins/*genetics
Mutation/*genetics
Pelizaeus-Merzbacher Disease/*genetics
Adult ; Arginine/genetics ; Brain/pathology ; Cell Line, Transformed ; DNA Mutational Analysis ; Electroencephalography ; Evoked Potentials, Visual/genetics ; Female ; Green Fluorescent Proteins/genetics ; Humans ; Leucine/genetics ; Magnetic Resonance Imaging ; Membrane Potentials/genetics ; Patch-Clamp Techniques ; Pelizaeus-Merzbacher Disease/diagnosis ; Transfection
Czasopismo naukowe
Tytuł :
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation.
Autorzy :
Canafoglia L; Neurophysiopathology and Epilepsy Center, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
Morbin M
Scaioli V
Pareyson D
D'Incerti L
Fugnanesi V
Tagliavini F
Berkovic SF
Franceschetti S
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Źródło :
Epilepsia [Epilepsia] 2014 Jun; Vol. 55 (6), pp. e56-9. Date of Electronic Publication: 2014 Apr 29.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Intercellular Signaling Peptides and Proteins/*genetics
Neuronal Ceroid-Lipofuscinoses/*genetics
Retinal Diseases/*genetics
Seizures/*genetics
Atrophy ; Brain/pathology ; Brain/physiopathology ; Cerebellum/pathology ; Electroencephalography ; Evoked Potentials, Visual ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation ; Neuroimaging ; Neuronal Ceroid-Lipofuscinoses/physiopathology ; Phenotype ; Progranulins ; Recurrence ; Siblings ; Young Adult
Czasopismo naukowe
Tytuł :
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.
Autorzy :
Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Foundation IRCCS Neurological Institute 'Carlo Besta', Via Celoria 11, 20133, Milan, Italy, .
Brugnoni R
Scaioli V
Winden TL
Morandi L
Engel AG
Mantegazza R
Bernasconi P
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Źródło :
Journal of neurology [J Neurol] 2013 Oct 12, pp. . Date of Electronic Publication: 2013 Oct 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Giant SEPs and SEP-recovery function in Unverricht-Lundborg disease.
Autorzy :
Visani E; Department of Neurophysiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L
Rossi Sebastiano D
Agazzi P
Panzica F
Scaioli V
Ciano C
Franceschetti S
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Źródło :
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2013 May; Vol. 124 (5), pp. 1013-8. Date of Electronic Publication: 2012 Dec 29.
Typ publikacji :
Journal Article
MeSH Terms :
Evoked Potentials, Somatosensory/*physiology
Median Nerve/*physiopathology
Recovery of Function/*physiology
Unverricht-Lundborg Syndrome/*physiopathology
Adolescent ; Adult ; Aged ; Electric Stimulation/methods ; Female ; Humans ; Male ; Middle Aged ; Neural Inhibition/physiology ; Young Adult
Czasopismo naukowe
Tytuł :
Tethered cord: natural history, surgical outcome and risk for Chiari malformation 1 (CM1): a review of 110 detethering.
Autorzy :
Valentini LG; Department of Neurosurgery, Fondazione Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy. />Selvaggio G
Visintini S
Erbetta A
Scaioli V
Solero CL
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2011 Dec; Vol. 32 Suppl 3, pp. S353-6.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Arnold-Chiari Malformation/*etiology
Neurosurgical Procedures/*adverse effects
Postoperative Complications/*physiopathology
Arnold-Chiari Malformation/surgery ; Child, Preschool ; Electromyography ; Female ; Humans ; Italy ; Longitudinal Studies ; Magnetic Resonance Imaging ; Male ; Neural Tube Defects/surgery ; Retrospective Studies ; Spina Bifida Occulta/surgery
Czasopismo naukowe
Tytuł :
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu.
Autorzy :
Salsano E; IRCCS Foundation, C. Besta Neurological Institute, via Celoria 11, 20133 Milan, Italy.
Fancellu R
Di Fede G
Ciano C
Scaioli V
Nanetti L
Politi LS
Tagliavini F
Mariotti C
Pareyson D
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Źródło :
Journal of the neurological sciences [J Neurol Sci] 2011 Mar 15; Vol. 302 (1-2), pp. 85-8. Date of Electronic Publication: 2010 Dec 16.
Typ publikacji :
Journal Article
MeSH Terms :
Gerstmann-Straussler-Scheinker Disease/*diagnosis
Gerstmann-Straussler-Scheinker Disease/*physiopathology
Lower Extremity/*physiopathology
Neural Conduction/*physiology
Prions/*genetics
Reflex, Abnormal/*genetics
Adult ; Brain/pathology ; Electroencephalography ; Electrophysiological Phenomena ; Evoked Potentials, Motor/physiology ; Evoked Potentials, Somatosensory/physiology ; Family ; Female ; Gerstmann-Straussler-Scheinker Disease/genetics ; Humans ; Italy ; Leucine ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neurologic Examination ; Proline
Czasopismo naukowe
Tytuł :
Characterization of severe action myoclonus in sialidoses.
Autorzy :
Canafoglia L; Dept of Neurophysiopathology, IRCCS Foundation Carlo Besta Neurological Institute, Milano, Italy. />Franceschetti S
Uziel G
Ciano C
Scaioli V
Guerrini R
Visani E
Panzica F
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Źródło :
Epilepsy research [Epilepsy Res] 2011 Mar; Vol. 94 (1-2), pp. 86-93. Date of Electronic Publication: 2011 Feb 16.
Typ publikacji :
Journal Article
MeSH Terms :
Mucolipidoses/*complications
Myoclonus/*diagnosis
Myoclonus/*etiology
Adolescent ; Adult ; Aged ; Cerebral Cortex/pathology ; Cerebral Cortex/physiopathology ; Electroencephalography/methods ; Electromyography/methods ; Female ; Humans ; Male ; Middle Aged ; Spectrum Analysis ; Young Adult
Czasopismo naukowe
Tytuł :
Myoclonus in Creutzfeldt-Jakob disease: polygraphic and video-electroencephalography assessment of 109 patients.
Autorzy :
Binelli S; Unit of Neurophysiopathology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
Agazzi P
Canafoglia L
Scaioli V
Panzica F
Visani E
Di Fede G
Giaccone G
Bizzi A
Bugiani O
Avanzini G
Tagliavini F
Franceschetti S
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2010 Dec 15; Vol. 25 (16), pp. 2818-27.
Typ publikacji :
Journal Article
MeSH Terms :
Brain/*physiopathology
Creutzfeldt-Jakob Syndrome/*complications
Myoclonus/*diagnosis
Aged ; Analysis of Variance ; Creutzfeldt-Jakob Syndrome/physiopathology ; Electroencephalography ; Electromyography ; Humans ; Male ; Middle Aged ; Myoclonus/classification ; Myoclonus/complications ; Myoclonus/physiopathology ; Videotape Recording
Czasopismo naukowe

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